name
"Abdomen, Acute"
Abdominal Cramps
Abdomen distended
Abdominal mass
Abdominal Neoplasms
Abdominal Pain
Abetalipoproteinemia
Congenital Abnormality
"Abnormalities, Drug-Induced"
Multiple congenital anomalies
Spontaneous abortion
"Abortion, Habitual"
Threatened abortion
"Abortion, Tubal"
Abruptio Placentae
Abscess
Agenesis
Acanthamoeba Keratitis
Acantholysis
Acanthosis Nigricans
Accidental Falls
Achlorhydria
Achondrogenesis
Achondroplasia
Acidosis
"Acidosis, Lactic"
Renal tubular acidosis
"Acidosis, Respiratory"
Acinetobacter Infections
Acne Vulgaris
Acne Keloid
Acquired Immunodeficiency Syndrome
Apert syndrome
Acrodermatitis
Acrokeratosis
Acromegaly
"ACTH Syndrome, Ectopic"
Actinobacillus Infections
Actinomycosis
Acute alcoholic liver disease
Acute and subacute liver necrosis (disorder)
Acute bronchiolitis
Herpetic Acute Necrotizing Encephalitis
Acute pancreatitis
Acute periodontitis
Acute pharyngitis
Acute-Phase Reaction
Acute tonsillitis
Acute vascular insufficiency of intestine (disorder)
Massive Hepatic Necrosis
Addison Disease
Adenitis
Adenocarcinoma
Papillary adenocarcinoma
Adenofibroma
Adenolymphoma
Adenoma
"Adenoma, Chromophobe"
"Adenoma, Acidophil"
Adenosarcoma
Adenovirus Infections
Postoperative adhesion
Tissue Adhesions
Adiposis Dolorosa
Adjustment disorder with depressed mood
Adjustment Disorders
Adnexal Diseases
Adrenal Cortex Diseases
Tumors of Adrenal Cortex
Adrenal Gland Diseases
Adrenal Gland Hyperfunction
Adrenal gland hypofunction
Adrenal Gland Neoplasms
Congenital adrenal hyperplasia
Adrenal Rest Tumor
Adult Antisocial Behavior
"Affective Disorders, Psychotic"
Affective Symptoms
Afibrinogenemia
African swine fever
Agammaglobulinemia
"Osteoporosis, Age-Related"
Aggressive behavior
Aging
Primary Myelofibrosis
Agnosia
Agoraphobia
Agranulocytosis
Agraphia
Agricultural Workers' Diseases
AIDS Dementia Complex
AIDS related complex
Airway Obstruction
Akinetic Mutism
Akinetic Petit Mal
Albinism
Albuminuria
Alcohol consumption
Alcohol Use Disorder
Alcohol Withdrawal Delirium
Alcoholic Intoxication
"Alcoholic Intoxication, Chronic"
Aleutian Mink Disease
Alexia
Alexithymia
Alkalosis
"Alkalosis, Respiratory"
Alkaptonuria
Atopic rhinitis
Allogenic disease
Alloxan Diabetes
Alopecia
Alopecia Areata
alpha-Thalassemia
Altitude Sickness
Alveolar Bone Loss
Extrinsic allergic alveolitis
Alzheimer's Disease
Amblyopia
Amebiasis
Amelia
Ameloblastoma
Amelogenesis Imperfecta
Amenorrhea
"Amino Acid Metabolism, Inborn Errors"
Renal Aminoacidurias
Amnesia
Post-traumatic amnesia
Retrograde amnesia
Amnestic Disorder
Infection of amniotic cavity
Amputation Stumps
Amyloidosis
Oppenheim's Disease
Amyotrophic Lateral Sclerosis
Congenital Pain Insensitivity
anaphylaxis
Anaplasia
Bovine Anaplasmosis
Ancylostomiasis
Anemia
Anemia of chronic disease
Aplastic Anemia
Cooley's anemia
Congenital dyserythropoietic anemia
"Anemia, Hemolytic"
"Anemia, Hemolytic, Acquired"
Autoimmune hemolytic anemia
"Anemia, Hemolytic, Congenital"
"Anemia, Hemolytic, Congenital Nonspherocytic"
"Anemia, Hemolytic, Idiopathic Acquired"
Hypochromic anemia
"Anemia, Macrocytic"
"Anemia, Megaloblastic"
"Anemia, Microangiopathic"
Leukoerythroblastic Anemia
"Anemia, Neonatal"
"Anemia, Pernicious"
Refractory anemias
Refractory anaemia with excess blasts
"Anemia, Sickle Cell"
Sideroblastic anemia
"Anemia, Splenic"
Anencephaly
Aneuploidy
Aneurysm
"Aneurysm, Dissecting"
Anger
Angiectasis
Angina Pectoris
"Angina Pectoris, Variant"
"Angina, Unstable"
Angioid Streaks
Angiokeratoma
Fabry Disease
Epithelioid hemangioma of skin
Cutaneous Fibrous Histiocytoma
Angiomatosis
Angioedema
Anhidrosis
Aniridia
Aniseikonia
Anisocoria
Anisometropia
Ankylosing spondylitis and other inflammatory spondylopathies
Ankylosis
Anomia
Anophthalmos
Anorexia
Anorexia Nervosa
Anosmia
Anovulation
Anoxemia
Anoxia
Anoxic Encephalopathy
Anthracosilicosis
Anthracosis
Anthrax disease
Cutaneous anthrax
Antibody Deficiency Syndrome
Antisocial Personality Disorder
Anuria
Anus Neoplasms
"Anus, Imperforate"
Anxiety
Anxiety Disorders
Separation Anxiety Disorder
Aortic Aneurysm
Aortic coarctation
Aortic Diseases
Aortic Rupture
Supravalvular aortic stenosis
Aortic Valve Insufficiency
Aortic Valve Stenosis
Aortitis
Aortitis Syndrome
Aortopulmonary Septal Defect
Aphakia
Aphasia
"Aphasia, Acquired"
Broca Aphasia
Aphonia
Apnea
Appendiceal Neoplasms
Appendicitis
Appetite Disorders
Apraxias
Apudoma
Arachnodactyly
Arachnoiditis
Arbovirus Infections
Arcus Senilis
Arenaviridae Infections
Arnold Chiari Malformation
Sertoli-Leydig cell tumor of ovary
Cardiac Arrhythmia
Arterial insufficiency
Arterial Occlusive Diseases
Arteriosclerosis
Arteriosclerosis Obliterans
Arteriovenous fistula
Congenital arteriovenous malformation
Arteritis
Arthralgia
Arthritis
"Arthritis, Adjuvant-Induced"
"Arthritis, Gouty"
"Arthritis, Infectious"
"Arthritis, Psoriatic"
Rheumatoid Arthritis
"Arthritis, Viral"
Arthrogryposis
Neurogenic arthropathy
Arthus Reaction
Articulation Disorders
As If Personality
Asbestosis
Ascariasis
Ascites
Ascorbic Acid Deficiency
Aspergillosis
"Aspergillosis, Allergic Bronchopulmonary"
Asphyxia
Asphyxia Neonatorum
Inspiration function
aspirin intolerance
Asthenia
Asthma
"Asthma, Exercise-Induced"
Astigmatism
Astrocytoma
Ataxia
Ataxia Telangiectasia
"Ataxias, Hereditary"
Atelectasis
Atherosclerosis
Athetosis
Atrial Fibrillation
Atrial Flutter
Atrioventricular Block
Child attention deficit disorder
Tooth Attrition
Auditory Perceptual Disorders
Auriculo-Ventricular Dissociation
Autistic Disorder
Autoimmune Diseases
Autoimmune state
Autosome Abnormalities
"Sarcoma, Avian"
Avoidant Personality Disorder
Azoospermia
"Melanoma, B16"
Babesiosis
Back Pain
Nonproliferative diabetic retinopathy
Retinopathy background
Bacteremia
Bacterial Infections
"Pneumonia, Bacterial"
Bacteriuria
Bacteroides Infections
Bagassosis
Balkan Nephropathy
Balo's Concentric Sclerosis
Barrett Esophagus
Bartonella Infections
Bartter Disease
Basal Cell Nevus Syndrome
Basal Ganglia Diseases
Beckwith-Wiedemann Syndrome
Behavior Disorders
Mental disorders
Behavioral Symptoms
Behcet Syndrome
Bejel
Benign neoplasm of colon
Benign Ovarian Neoplasm
Benign neoplasm of skin
Benign prostatic hypertrophy
Beriberi
Bernard-Soulier Syndrome
Berry Aneurysm
Berylliosis
Besnoitiasis
beta Thalassemia
Bile Duct Diseases
Bile Duct Neoplasms
"Cholestasis, Extrahepatic"
Bile Reflux
Biliary Atresia
Biliary Tract Diseases
Biliary Tract Neoplasm
Bipolar Disorder
"Depression, Bipolar"
Birth Weight
Urinary Bladder Calculi (disorder)
Malignant neoplasm of urinary bladder
Urinary Bladder Diseases
Bladder Exstrophy
Bladder neck obstruction
Bladder Neoplasm
Neurogenic Urinary Bladder
Blast Phase
Blastomycosis
Oral paracoccidioidomycosis
Blepharitis
Blepharochalasis
Blepharophimosis
Blepharoptosis
Blepharospasm
Blind Loop Syndrome
Congenital blindness
Bulla
Blood Coagulation Disorders
Blood Group Incompatibility
Blood Platelet Disorders
Blood Pressure
Blood Sedimentation
Blood urea nitrogen measurement
Blood Viscosity
Bloom Syndrome
Bluetongue infection
Blushing
Body Dysmorphic Disorders
Body Height
Body mass index procedure
Body Rocking
Body Temperature Changes
Body Weight
Body Weight Changes
Bone Cysts
Bone Density
Bone Diseases
"Bone Diseases, Developmental"
"Bone Diseases, Endocrine"
Metabolic Bone Disorder
Bone Marrow Diseases
Bone neoplasms
Bone Resorption
Border Disease
Borderline intellectual disability
Borderline Personality Disorder
Bordetella Infections
Borna Disease
Borrelia Infections
Boutonneuse Fever
Bowen's Disease
Brachial plexus lesion
Brain Abscess
"Brain Damage, Chronic"
Brain Death
Brain Diseases
"Brain Diseases, Metabolic"
Cerebral Edema
Brain Neoplasms
Branchioma
Malignant neoplasm of breast
Breast Cyst
Breast Diseases
Breech Presentation
Brenner Tumor
Bronchial Diseases
Bronchial Fistula
Bronchial Neoplasms
Bronchospasm
Bronchiectasis
Bronchiolitis
Bronchiolitis Obliterans
"Bronchiolitis, Viral"
Bronchitis
Congenital bronchogenic cyst
Bronchopneumonia
Bronchopulmonary Dysplasia
Bronchopulmonary Sequestration
Brucellosis
Bruxism
Bulimia
Bundle-Branch Block
Bunion
Burkitt Lymphoma
Burning Mouth Syndrome
Bursitis
Byssinosis
Cachexia
Cadmium poisoning
Calcinosis
Calcinosis cutis
Calciphylaxis
Calcium Metabolism Disorders
Campylobacter infection
Malignant Neoplasms
Candidiasis
"Candidiasis, Chronic Mucocutaneous"
Cutaneous Candidiasis
Mucocutaneous candidiasis
Oral candidiasis
Candidiasis of vagina
Cannabis Abuse
Cannabis Dependence
Capillariasis
Capillaritis
Capillary Fragility
Caplan Syndrome
"Carbohydrate Metabolism, Inborn Errors"
Carbon Monoxide Poisoning
Carcinoid Heart Disease
Carcinoid Tumor
Carcinoma
Malignant tumor of colon
Malignant neoplasm of endometrium
Female Breast Carcinoma
Malignant neoplasm of larynx
Adenocarcinoma of prostate
Rectal Carcinoma
Malignant neoplasm of skin
Malignant neoplasm of thyroid
Basal cell carcinoma
"Carcinoma, Basosquamous"
Bronchioloalveolar Adenocarcinoma
Bronchogenic Carcinoma
Noninfiltrating Intraductal Carcinoma
"Carcinoma, Ehrlich Tumor"
Merkel cell carcinoma
Mucinous Adenocarcinoma
Non-Small Cell Lung Carcinoma
"Carcinoma, Papillary"
Renal Cell Carcinoma
"Adenocarcinoma, Scirrhous"
Squamous cell carcinoma
"Carcinoma, Transitional Cell"
Carcinosarcoma
Low Cardiac Output
Cardiac Tamponade
"Cardiomyopathy, Alcoholic"
"Cardiomyopathy, Dilated"
Hypertrophic Cardiomyopathy
Restrictive cardiomyopathy
Cardiovascular Diseases
Carotid Artery Diseases
Carotid Artery Thrombosis
Carotid Body Paraganglioma
Carotid Stenosis
Carpal Tunnel Syndrome
Cartilage Diseases
Cat-Scratch Disease
Catalepsy
Cataplexy
Catastrophic Illness
Catatonia
Causalgia
Cecal Neoplasms
Celiac Disease
Neoplastic Cell Transformation
Cellulitis
Cellulitis and abscess NOS (disorder)
Cementoma
CNS disorder
Central Nervous System Infection
Central Retinal Artery Occlusion
Cephalhematoma due to birth trauma
Cerebellar Ataxia
Cerebellar Diseases
Myoclonic Cerebellar Dyssynergia
Cerebellar Neoplasms
Intracranial Aneurysm
Intracranial Arteriosclerosis
Intracranial Arteriovenous Malformation
Cerebral arteritis
Cerebral Atherosclerosis
Cerebral Embolism
Intracranial Embolism and Thrombosis
Cerebral Infarction
Brain Ischemia
Transient Ischemic Attack
Cerebral Palsy
Diffuse Cerebral Sclerosis of Schilder
Cerebrospinal Fluid Rhinorrhea
Cerebrovascular Disorders
Malignant tumor of cervix
Cervical Migraine Syndrome
Cervical polyp
Neck Pain
Uterine Cervicitis
Cervico-Brachial Neuralgia
Cervix Diseases
Cervical dysplasia
Uterine Cervical Incompetence
Uterine Cervical Neoplasm
Cestode Infections
Chagas Cardiomyopathy
Chagas' disease without mention of organ involvement
Meibomian Cyst
Syphilitic chancre
Chancroids
Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome
Cheilitis
Cherubism
Chest Pain
Pleuritic pain
Cheyne-Stokes Respiration
Chiari-Frommel Syndrome
Chikungunya Fever
Chilblains
child abuse behavior
Child Sexual Abuse
Developmental Disabilities
"Child Development Disorders, Pervasive"
Chlamydia Infections
Chloramphenicol Resistance
Asiderotic anemia
Choanal Atresia
Polyp in nasopharynx
Choking
Bile duct adenoma
Cholangitis
Primary biliary cirrhosis
"Cholangitis, Sclerosing"
Cholecystitis
Choledochal Cyst
Cholelithiasis
Cholemia
Cholera
Cholestasis
Intrahepatic Cholestasis
Cholesteatoma
Cholesterol Ester Storage Disease
Choline Deficiency
Chondritis
Chondroblastoma
Chondrodysplasia Punctata
Congenital anomaly of cartilage
"Chondromatosis, Synovial"
Chondrosarcoma
Chordoma
Chorea
"Hydatidiform Mole, Invasive"
Chorioamnionitis
Choriocarcinoma
Chorioretinitis
Ectopic Tissue
Choroid Diseases
Choroid Hemorrhage
Choroideremia
Choroiditis
Hemophilia B
Chromoblastomycosis
Chromosome Aberrations
Congenital chromosomal disease
Chromosome Deletion
"Bronchitis, Chronic"
Cryptogenic pulmonary eosinophilia
Chronic gingivitis
Chronic anterior uveitis
Chronic maxillary sinusitis
Chronic Motor or Vocal Tic Disorder
Chronic osteomyelitis
Chronic rhinitis
Eosinophilic granulomatosis with polyangiitis
Chylous Ascites
Chylothorax
Cicatrization
Ciliary Motility Disorders
Circadian Rhythms
Claustrophobia
Cleft upper lip
Cleft Palate
Cleidocranial Dysplasia
Clonorchiasis
Clonus
"Melanoma, Cloudman S91"
Clubbed Fingers
Congenital clubfoot
Cluster A personality disorder
Cluster B personality disorder
Cluster C personality disorder
Cluster Headache
Cluttering
Cocaine Abuse
Cocaine intoxication
Cocaine withdrawal
Coccidioidomycosis
Coccidiosis
Cochlear Diseases
Cockayne Syndrome
Coenuriasis
Cognition Disorders
Colitis
Ulcerative Colitis
Collagen Diseases
Congenital ocular coloboma (disorder)
Colonic Diseases
"Colonic Diseases, Functional"
Colonic Neoplasms
Colonic Polyps
Color vision defect
Colorectal Carcinoma
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Comatose
Combat Disorders
Common Bile Duct Calculi
"Choledochal Cyst, Type I"
Common Cold
Common Variable Immunodeficiency
Communicating Hydrocephalus
Communication impairment
Compartment syndromes
Obsessive-Compulsive Personality
Condylomata Acuminata
Confusion
Congenital macroglossia
Anomalous pulmonary artery
Congenital cataract
Congenital dislocation
"Hepatic Fibrosis, Congenital"
Spinal meningocele
Conjunctival Diseases
Conjunctival Neoplasms
Conjunctivitis
"Conjunctivitis, Acute Hemorrhagic"
Allergic Conjunctivitis
"Conjunctivitis, Giant Papillary"
Viral Conjunctivitis
Conn Adenoma
Connective Tissue Diseases
Consciousness Disorders
Constipation
Constitutional Symptom
Contracture
Contracture of joint
Contrast Sensitivity
Conversion disorder
Febrile Convulsions
Cor Triatriatum
Corneal Diseases
Hereditary corneal dystrophy
Corneal dystrophy
Corneal Opacity
Corneal Ulcer
Corn of toe
Coronary Aneurysm
Coronary Arteriosclerosis
Coronary heart disease
Coronary Thrombosis
Coronary Artery Vasospasm
Coronary Vessel Anomalies
Corpus Luteum Cyst
Coughing
Chronic cough
Cowpox
Coxsackievirus Infections
Cranial nerve diseases
Craniofacial Dysostosis
Craniopharyngioma
Craniosynostosis
Congenital Hypothyroidism
Cri-du-Chat Syndrome
"Crigler Najjar syndrome, type 1"
Crisscross Heart
Crohn Disease
Croup
Crush syndrome
Cruveilhier-Baumgarten Syndrome
Cryoglobulinemia
Infection by Cryptococcus neoformans
Cryptorchidism
Cryptosporidiosis
Curling Ulcer
Cushing Syndrome
Cutis Laxa
Cyanosis
Cyclothymic Disorder
Adenoid Cystic Carcinoma
Embryonic cyst
Cystadenocarcinoma
Cystadenoma
"Cystadenoma, Mucinous"
"Cystic Adenomatoid Malformation of Lung, Congenital"
Endometrial cystic hyperplasia
Cystic Fibrosis
Cysticercosis
Cystinuria
Cystitis
Cystocele
Phyllodes Tumor
Cyst
Cytomegalovirus Infections
Dacryocystitis
Dandy-Walker Syndrome
Prelingual Deafness
Deafness
"Hearing Loss, Sudden"
Sudden death
Decerebrate State
Decompression Sickness
Pressure Ulcer
Deglutition Disorders
Dehydration
Dejerine-Sottas Disease (disorder)
Delirium
Hepatitis D Infection
Delusional disorder
Delusions
Multi-infarct dementia
Presenile dementia
Senile dementia
"Dementia, Vascular"
Demyelinating disease of central nervous system
Demyelinating Diseases
Demyelination
Dengue Fever
Dens in Dente
Dental Calculus
Dental caries
Dental Enamel Hypoplasia
Dental Plaque
Dental Pulp Diseases
Dental Pulp Exposure
Dental Pulp Necrosis
Dentigerous Cyst
Dentin Dysplasia
Dentin Sensitivity
"Dentin, Secondary"
Dentinogenesis Imperfecta
Dependent Personality Disorder
Depersonalization
Mental Depression
Endogenous depression
Involutional Depression
Reactive depression
Depressive disorder
Dermatitis
Exfoliative dermatitis
Dermatitis Herpetiformis
Drug Eruptions
"Dermatitis, Atopic"
Contact Dermatitis
Stasis dermatitis
Dermatomycoses
Dermatomyositis
Dermatophytosis
Scleroderma
Dermatosis Papulosa Nigra
Dermoid Cyst
Developmental Coordination Disorder
Dextrocardia
Diabetes
Diabetes Insipidus
Diabetes Mellitus
"Diabetes Mellitus, Experimental"
"Diabetes Mellitus, Insulin-Dependent"
Lipoatrophic Diabetes Mellitus
"Diabetes Mellitus, Non-Insulin-Dependent"
Diabetic peripheral angiopathy
Diabetic Angiopathies
Cataract due to diabetes mellitus
Diabetic Ketoacidosis
Diabetic Nephropathy
Diabetic Neuropathies
Diabetic Retinopathy
"Diagnostic Techniques, Cardiovascular"
Diaphragmatic Eventration
Camurati-Engelmann Syndrome
Diarrhea
Infantile Diarrhea
Vipoma
Diastema of Teeth
Diastematomyelia
Dictyocaulus Infections
DiGeorge Syndrome
Congenital anomaly of gastrointestinal tract
Digestive System Disorders
Digestive System Neoplasms
Pathological Dilatation
Diphtheria
Diplopia
Dirofilariasis
disc disorder
Discitis
Blastocyst Disintegration
Disorder of copper metabolism
Iron Metabolism Disorders
Disorder of magnesium metabolism
Disruptive Behavior Disorder
Dissecting aortic aneurysm
Disseminated Intravascular Coagulation
Dissociative disorder
Distemper
Tooth eruption disorder
Colon diverticulum anatomic structure
Diverticulitis
Colonic Diverticulitis
Diverticulum
Diverticular disease of colon
Dizziness
Double Outlet Right Ventricle
Down Syndrome
Drinking behavior processes
Drooling
Drowsiness
Drug abuse
Drug habituation
Drug Allergy
Drug toxicity
Drug Use Disorders
Dry Eye Syndromes
Duane Retraction Syndrome
"Muscular Dystrophy, Duchenne"
Patent ductus arteriosus
Dumping Syndrome
Duodenal Diseases
Duodenal Neoplasms
Duodenal Ulcer
Duodenitis
Dupuytren Contracture
Dwarfism
Pituitary dwarfism
Dysarthria
Dysautonomia
"Dysautonomia, Familial"
Dyschondroplasias
Dysentery
Amebic colitis
Shigella Infections
Dysgammaglobulinemia
Dysganglionosis
Dysgerminoma
Dyskinetic syndrome
"Dyskinesia, Drug-Induced"
Dysmenorrhea
Dysostoses
Dyspareunia (female)
Dyspepsia
Dysplastic Nevus Syndrome
Dyspnea
"Dyspnea, Paroxysmal"
Dyssocial Behavior
Dysthymic Disorder
Dystonia
Dystonia Musculorum Deformans
Dystrophy of vulva
Dysuria
Ear Diseases
Ear Neoplasms
Earache
East Coast Fever
Eating Disorders
Ebstein Anomaly
Ecchymosis
Echinococcosis
"Echinococcosis, Hepatic"
"Echinococcosis, Pulmonary"
Echolalia
Echovirus Infections
Eclampsia
Ecthyma
"Ecthyma, Contagious"
Ectodermal Dysplasia
Ectopia Lentis
Ectromelia
Ectropion
Eczema
Edema
"Edema, Cardiac"
Chylous effusion
Ehlers-Danlos Syndrome
Eisenmenger Complex
Elephantiasis
Filarial Elephantiases
"Elliptocytosis, Hereditary"
Ellis-Van Creveld Syndrome
Emaciation
Embolism
"Embolism, Amniotic Fluid"
"Embolism, Tumor"
Embryo Resorption
Embryopathies
Emotional Disturbances
Pathological accumulation of air in tissues
Empty Sella Syndrome
Empyema
"Empyema, Pleural"
Encephalitis
Encephalitis Lethargica
Japanese Encephalitis
"Encephalomyelitis, Acute Disseminated"
"Encephalitis, St. Louis"
Tick-Borne Encephalitis
Congenital cerebral hernia
Occipital Encephalocele
Encephalomalacia
Encephalomyelitis
Experimental Autoimmune Encephalomyelitis
"Leukoencephalitis, Acute Hemorrhagic"
Venezuelan equine encephalomyelitis
Enchondromatosis
Endocardial Cushion Defects
Endocardial Fibroelastosis
Endocarditis
Bacterial Endocarditis
Subacute Bacterial Endocarditis
Endocervical polyp
Endocervicitis
Endocrine System Diseases
Endocrine Gland Neoplasms
Yolk Sac Tumor
Endometrial Neoplasms
Endometrial Hyperplasia
Endometriosis
Endometritis
Endophthalmitis
Enophthalmos
Entamoebiasis
Enteritis
Enterobacteriaceae Infections
Enterocolitis
Enterotoxemia
Enterovirus Infections
Entropion
Enuresis
Eosinophilia
"Eosinophilia, Tropical"
Ependymoma
Eperythrozoonosis
Epidemic keratoconjunctivitis
Epithelial cyst
Toxic Epidermal Necrolysis
Epidermodysplasia Verruciformis
Epidermolysis Bullosa
Epididymitis
Epidural Neoplasms
Epiglottitis
Epilepsy
"Epilepsies, Partial"
"Epilepsy, Generalized"
Tonic-Clonic Epilepsy
Myoclonic Epilepsy
Absence Epilepsy
"Epilepsy, Temporal Lobe"
Uncinate Epilepsy
"Epiphyses, Slipped"
Epiphysitis
Episcleritis
Epispadias
Epistaxis
Epithelial hyperplasia
Giant Cell Epulis
Equinus Deformity
Erysipelas
Erysipelothrix infection
Erythema Chronicum Migrans
Erythema Multiforme
Erythema Nodosum
"Erythroblastosis, Fetal"
Red Blood Cell Count measurement
"Erythroderma, Maculopapular"
Erythroid hyperplasia
Erythromelalgia
Primary Erythermalgia
Erythroplasia
Escherichia coli Infections
Esophageal Achalasia
Esophageal and Gastric Varices
Esophageal Atresia
Esophageal Diseases
Esophageal diverticulum
Esophageal Fistula
Esophageal motility disorders
Esophageal Neoplasms
Esophageal spasm
Esophageal Stenosis
Esophageal Varices
Esophagitis
Peptic Esophagitis
Esotropia
Euthyroid Sick Syndromes
Exanthema
Exanthema Subitum
Exercise stress test
"Bronchospasm, Exercise-Induced"
Exhibitionism
Exophthalmos
External exotoses
Hereditary Multiple Exostoses
Exotropia
Exstrophy
Extramedullary hematopoiesis of spleen
Extrapyramidal Disorders
Extravasation of Contrast Media
Extraversion (Psychology)
Eye Abnormalities
Eye Color
Disorder of eye
"Eye Diseases, Hereditary"
Eye Infection
"Eye Infections, Bacterial"
Fungal eye infections
Eye Manifestations
Eye Neoplasms
Eyelid Diseases
Eyelid Neoplasms
Facial Dermatoses
Facial Hemiatrophy
Facial Neoplasms
Facial Nerve Diseases
Facial Pain
Facial paralysis
Hereditary Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Hereditary Factor XI Deficiency
Factor XII Deficiency
Hereditary Factor XIII Deficiency
Failure to Thrive
Fallopian Tube Neoplasms
Fanconi Syndrome
Fanconi Anemia
Farmer's Lung
Muscular fasciculation
Fasciitis
Fascioliasis
Fatigue
Chronic Fatigue Syndrome
Fatty Liver
"Fatty Liver, Alcoholic"
Arterial Fatty Streak
Favism
Favre-Racouchot Syndrome
Fazio-Londe Syndrome
Fecal Incontinence
Feeding behaviors
Felty Syndrome
Femur Head Necrosis
Fenestration (morphologic abnormality)
Fetal Alcohol Syndrome
Fetal Diseases
Fetal Distress
Fetal Growth Retardation
Fetal Macrosomia
"Fetal Membranes, Premature Rupture"
Fetal Resorption
Fever
Periodic fever
Fibroadenosis
Nonproliferative fibrocystic disease
Breast Fibrocystic Disease
Fibrodysplasia Ossificans Progressiva
Fibroelastosis
fibroma
Fibromatosis
"Fibromatosis, Gingival"
Fibromuscular Dysplasia
Fibromyalgia
Fibrosarcoma
Fibrosis
Osteitis Fibrosa Disseminata
"Fibrous Dysplasia, Monostotic"
Polyostotic fibrous dysplasia
Filariasis
Anal Fissure
pathologic fistula
Flank Pain
Flatfoot
Flatulence
Vitreous floaters
Fluoride Poisoning
Flushing
Focal Dermal Hypoplasia
Focal Infection
"Epilepsy, Partial, Motor"
Folic Acid Deficiency
Follicular cyst
Folliculitis
Food Allergy
Food Poisoning
Foot Deformities
Congenital Foot Deformity
Foot Diseases
Foot pain
Foot-and-Mouth Disease
"Foramen Ovale, Patent"
Forced expiratory volume function
Formication
Fowlpox
Pathological fracture
Fragile X Syndrome
Freckles
Freemartin
Freemartinism
Friedreich Ataxia
Frigidity
Froehlich's Syndrome
Hereditary fructose intolerance syndrome
"Fructose-1,6-Diphosphatase Deficiency"
Fuchs Endothelial Dystrophy
Fuchs' heterochromic cyclitis
Fucosidase Deficiency Disease
Functional disorder of intestine
Congenital pectus excavatum
Furunculosis
Fused Teeth
Galactosemias
Gall Bladder Diseases
gallbladder neoplasm
Gambling
Ganglioneuroma
Gangliosidoses
Gangrene
Gardner Syndrome
Gas Gangrene
Gastric Fistula
Gastric Varix
Gastrinoma
Gastritis
"Gastritis, Atrophic"
"Gastritis, Hypertrophic"
Gastroenteritis
"Gastroenteritis, Transmissible, of Swine"
Gastroesophageal reflux disease
Gastrointestinal Diseases
Gastrointestinal Hemorrhage
Gastrointestinal Neoplasms
Gaucher Disease
Psychosexual identity disorder
Generalized Nonconvulsive Seizure Disorder
Herpes Zoster Oticus
Female Genital Diseases
"Genital Diseases, Male"
"Genital Neoplasms, Female"
Gerstmann Syndrome
Gerstmann-Straussler-Scheinker Disease
Giant Cell Tumors
Angiolymphoid hyperplasia
Giardiasis
Gigantism
Gilbert Disease (disorder)
Gingival Diseases
Gingival Hemorrhage
Gingival Hyperplasia
Gingival Hypertrophy
Gingival Neoplasms
Gingival Recession
Gingivitis
Necrotizing Ulcerative Gingivitis
Chronic desquamative gingivitis
Glaucoma
Angle Closure Glaucoma
Primary angle-closure glaucoma
"Glaucoma, Neovascular"
"Glaucoma, Open-Angle"
"Glaucoma, Suspect"
Glioblastoma
Glioma
Gliosis
Globus Hystericus
Glomus Tumor
Glomerular Filtration Rate
Glomerulitis (disorder)
Glomerulonephritis
IGA Glomerulonephritis
"Glomerulonephritis, Membranoproliferative"
Membranous glomerulonephritis
Nodular glomerulosclerosis
Focal glomerulosclerosis
Glomus Jugulare Tumor
Glossalgia
Glossitis
"Glossitis, Benign Migratory"
Glucagonoma
Glucose tolerance test
Glycogen Storage Disease
Glycogen Storage Disease Type I
Glycogen storage disease type II
Glycogen Storage Disease Type III
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VIII
Glycosuria
"Glycosuria, Renal"
Gnathostomiasis
Goiter
Endemic goiter
Nodular Goiter
"Hypertension, Goldblatt"
Gonadal Disorders
Gonadal Dysgenesis
"Gonadal Dysgenesis, 46,XY"
"Gonadal Dysgenesis, Mixed"
Gonococcal urethritis
Gonorrhea
Gout
Gradenigo Syndrome
"Graft Occlusion, Vascular"
Graft Rejection
Graft-vs-Host Disease
"Granular Dystrophy, Corneal"
Granuloma
"Granuloma, Foreign-Body"
Giant Cell Granuloma
"Granuloma, Laryngeal"
"Granuloma, Lethal Midline"
"Granuloma, Plasma Cell"
"Granuloma, Respiratory Tract"
Granulomatous Angiitis
Chronic granulomatous disease
Granulomatous prostatitis
granulosa cell tumor
Graves Disease
Groenouw's Dystrophies
Growth Disorders
Guillain-Barre Syndrome
Gynandroblastoma
Gynecomastia
Gyrate Atrophy
Haemophilus Infections
Hair Color
Hair Diseases
Halitosis
Hallermann's Syndrome
Hallervorden-Spatz Syndrome
Hallucinations
Hallux Valgus
Hamartoma
"Hamartoma Syndrome, Multiple"
Hand deformities
Congenital Hand Deformities
"Hand, Foot and Mouth Disease"
"Melanoma, Harding-Passey"
Hartnup Disease
Hashish Abuse
Hay fever
Head and Neck Neoplasms
Head Banging
Head Neoplasms
Headache
"Hearing Loss, Bilateral"
"Hearing Loss, Central"
Conductive hearing loss
"Hearing Loss, High-Frequency"
Noise-induced hearing loss
Sensorineural Hearing Loss (disorder)
Cardiac Arrest
Heart Block
Congenital Heart Defects
Heart Diseases
Cardiomegaly
Heart failure
Congestive heart failure
Heart Function Tests
Heart murmur
Heart Neoplasm
heart rate
Myocardial rupture
"Heart Rupture, Post-Infarction"
Heart Septal Defects
Atrial Septal Defects
Ventricular Septal Defects
Heart valve disease
Heartburn
Heartwater Disease
Heavy Chain Disease
gamma-Chain Disease
Heberden node
Helminthiasis
Hemangioendothelioma
Hemangioma
"Hemangioma, Cavernous"
hemangiopericytoma
Hemangiosarcoma
Hemarthrosis
Hematemesis
Hematochezia
Hematocrit procedure
Hematological Disease
Hematoma
"Hematoma, Subdural"
Hematomyelia
Extramedullary Hematopoiesis Function
Hematuria
Hemeralopia
Hemianopsia
Hemicrania migraine
Hemimelia
Hemiparesis
Hemiplegia
Hemochromatosis
Hemoglobin C Disease
Hemoglobin F Disease
Hemoglobin concentration result
Hemoglobin SC Disease
Hemoglobinopathies
Hemoglobinuria
"Hemoglobinuria, Paroxysmal"
Hemolysis (disorder)
Hemolytic-Uremic Syndrome
Hemopericardium
Hemoperitoneum
Reactive Hemophagocytic Syndrome
Hemophilia A
Hemoptysis
Hemorrhage
Hemorrhagic Disorders
"Hemorrhagic Fever, American"
"Hemorrhagic Fever, Argentinian"
"Hemorrhagic Fever, Crimean"
Severe Dengue
Hemorrhagic Fever with Renal Syndrome
"Hemorrhagic Fevers, Viral"
Hemorrhoids
Hemosiderosis
Hemothorax
Hepatic Coma
Hepatic Encephalopathy
Hepatic Vein Thrombosis
Hepatic Veno-Occlusive Disease
Hepatitis
Hepatitis A
Hepatitis B
"Hepatitis, Alcoholic"
"Hepatitis, Animal"
"Hepatitis, Chronic"
"Hepatitis, Toxic"
"Hepatitis, Viral, Human"
Hepatitis C
Hepatolenticular Degeneration
"Hepatoma, Morris"
"Hepatoma, Novikoff"
Hepatomegaly
Hepatorenal Syndrome
Hepatosplenomegaly
"Angioedemas, Hereditary"
Hereditary factor I deficiency disease
Hermaphroditism
Hernia
Diaphragmatic Hernia
"Hernia, Femoral"
"Hernia, Inguinal"
"Inguinal Hernia, Direct"
"Inguinal Hernia, Indirect"
Umbilical hernia
Ventral Hernia
Heroin Dependence
Herpangina
Herpes NOS
Genital Herpes
Pemphigoid Gestationis
Herpes Labialis
Herpes Simplex Infections
"Keratitis, Herpetic"
Herpes zoster disease
Herpes Zoster Ophthalmicus
Herpesviridae Infections
Herpetic meningoencephalitis
"Deficiency, Hexosediphosphatase"
"Adenoma, Sweat Gland"
Hip Contracture
"Hip Dislocation, Congenital"
Hip joint pain
Von Hippel-Lindau Syndrome
Hirschsprung Disease
Hirsutism
"Histiocytic Disorders, Malignant"
Histiocytosis
"Histiocytosis, Langerhans-Cell"
Malignant histiocytosis
"Histiocytosis, Non-Langerhans-Cell"
Sinus histiocytosis
Histomoniasis
Histoplasmosis
HIV Infections
HIV Seropositivity
"Hereditary, Type VII, Motor and Sensory Neuropathy"
Hoarseness
Hodgkin Disease
Homocystinuria
Hookworm Infections
Horner Syndrome
Hostility
Howell-Jolly Bodies
"Hereditary Sensory Autonomic Neuropathy, Type 1"
"Hereditary Sensory Autonomic Neuropathy, Type 2"
HSAN Type IV
"Hereditary Sensory Autonomic Neuropathy, Type 5"
HTLV-I Infections
HTLV-II Infections
Hunger
Huntington Disease
Hyaline Membrane Disease
Hydatidiform Mole
Polyhydramnios
Hydranencephaly
Hydroa Vacciniforme
Hydrocephalus
Congenital Hydrocephalus
"Hydrocephalus, Normal Pressure"
Hydronephrosis
Hydrophthalmos
Hydrops Fetalis
Hydrothorax
Hymenolepiasis
Hyperaldosteronism
Hyperalgesia
Hyperbilirubinemia
"Hyperbilirubinemia, Hereditary"
Hypercalcemia
Hypercalciuria
Hypercapnia
Hypercementosis
Hypercholesterolemia
"Hypercholesterolemia, Familial"
Hyperdistention
Hyperemesis Gravidarum
Hyperemia
Hyperesthesia
Hypergammaglobulinemia
Hyperglycemia
Hyperhidrosis disorder
Hyperinsulinism
Hyperkalemia
Hyperlipidemia
"Hyperlipidemia, Familial Combined"
Hyperlipoproteinemias
Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type V
Hypernatremia
Hyperopia
Hyperostosis
Hyperostosis Frontalis Interna
Hyperostosis of skull
Cortical Congenital Hyperostosis
"Hyperostosis, Diffuse Idiopathic Skeletal"
Hyperoxaluria
Primary Hyperoxaluria
Hyperparathyroidism
"Hyperparathyroidism, Secondary"
Hyperphagia
Hyperplasia
Hyperprolactinemia
Hypersensitivity
Delayed Hypersensitivity
Immediate hypersensitivity
Disorders of Excessive Somnolence
Hypersomnia with Periodic Respiration
Hypersplenism
Orbital separation excessive
Hypertensive disease
Malignant Hypertension
Portal Hypertension
Pulmonary Hypertension
Renal hypertension
"Hypertension, Renovascular"
Hypertensive crisis
Hyperthyroidism
Hyperthyroxinemia
Hypertrichosis
Hypertriglyceridemia
Hypertrophy
Hypertropia
Hyperventilation
Hypesthesia
Hyphema
Hypoactive Sexual Desire Disorder
Hypoaldosteronism
Hypobetalipoproteinemias
Hypocalcemia
Hypocalciuria
Hypochondriasis
Hypodontia
Hypogalactia
Hypoglycemia
Hypoglycemic coma
Hypogonadism
Hypohidrosis
Hypokalemia
Hypolipoproteinemias
Hypomenorrhea
Hyponatremia
Hypoparathyroidism
Hypopharyngeal Neoplasms
Hypophosphatasia
Familial hypophosphatemia
Hypopituitarism
underdevelopment
Hypoproteinemia
Inherited Factor II deficiency
Hypotension
"Hypotension, Orthostatic"
"Hypothermia, natural"
Hypothyroidism
Hypotrichosis
Sleep-related respiratory failure
Hypovolemic Shock
Hysteria
Type II Mucolipidosis
Iatrogenic Disease
Ichthyoses
Congenital ichthyosis
Profound Mental Retardation
Idiopathic Hypercatabolic Hypoproteinemia
Ileal Diseases
Ileitis
Illusions
Immune Complex Diseases
Angioimmunoblastic Lymphadenopathy
Immunologic Deficiency Syndromes
Immune System Diseases
Immunoproliferative Disorders
Immunoproliferative Small Intestinal Disease
Impetigo
Bullous impetigo
"Disruptive, Impulse Control, and Conduct Disorders"
Impulse-Ridden Personality
Impulsive Behavior
Inadequate Personality
Inappropriate ADH Syndrome
Incipient Schizophrenia
Incontinence
Bloch Sulzberger syndrome
Increased Libido
Indeterminate leprosy
Neonatal disorder
"Infant, Premature, Diseases"
"Infant, Small for Gestational Age"
Infarction
Infection of kidney
Infectious enteritis
Infectious Mononucleosis
Infective otitis externa
Infertility
Female infertility
Male infertility
Mammary Ductal Carcinoma
Inflammation
Inflammatory Bowel Diseases
Influenza
Infratentorial Neoplasms
INJECTED EYE
Sleep Initiation and Maintenance Disorders
Insulin Resistance
insulinoma
Intelligence
"Myoclonus, Intention"
Intermittent Claudication
Intermittent Explosive Disorder
Intervertebral Disk Displacement
Intestinal Atresia
Intestinal Diseases
"Intestinal Diseases, Parasitic"
Intestinal Fistula
Intestinal Neoplasms
Intestinal Obstruction
Intestinal Perforation
Intestinal Polyps
Intestinal Pseudo-Obstruction
Physiologic Intraocular Pressure
Intussusception
Iridocyclitis
Iris Diseases
Iris Neoplasms
Iritis
Irritable Bowel Syndrome
Irritable Mood
Ischemia
Transient ischemia
Islet Cell Adenoma
Incontinentia Pigmenti Achromians
Jacksonian Seizure
Creutzfeldt-Jakob disease
Late-Infantile Neuronal Ceroid Lipfuscinosis
Icterus
"Jaundice, Chronic Idiopathic"
Neonatal Jaundice
"Jaundice, Obstructive"
Jaw Abnormalities
Jaw Cysts
Jervell-Lange Nielsen Syndrome
Arthropathy
Joint Instability
Joint Tuberculosis
Kandinsky Syndrome
Kaposi Varicelliform Eruption
Kartagener Syndrome
Kearns-Sayre syndrome
Keloid
Keratitis
keratoacanthoma
Keratoconjunctivitis
Keratoconjunctivitis Sicca
"Keratoconjunctivitis, Vernal"
Keratoconus
Keratoderma
Punctate keratosis
"Keratoderma, Palmoplantar, Diffuse"
Keratosis
Keratosis Blennorrhagica
Keratosis Follicularis
Palmoplantar Keratosis
Actinic keratosis
Seborrheic keratosis
Kernicterus
Ketosis
Kidney Calculi
Kidney Cortex Necrosis
Kidney Diseases
"Kidney Failure, Acute"
"Kidney Failure, Chronic"
Kidney Neoplasm
Acute Kidney Tubular Necrosis
Cystic kidney
Polycystic Kidney Diseases
Medullary sponge kidney
Kienbock Disease
Menkes Kinky Hair Syndrome
Klebsiella Infections
Klinefelter Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Vulvar Lichen Sclerosus
Krukenberg Tumor
Adult Neuronal Ceroid Lipofuscinosis
Kuru
Kwashiorkor
Kyasanur Forest Disease
Kyphosis deformity of spine
Premature Obstetric Labor
Labyrinthine disorder
Labyrinthitis
Lacrimal Apparatus Diseases
Lacrimal Duct Obstruction
Lactose Intolerance
Lambert-Eaton Myasthenic Syndrome
Langer-Giedion Syndrome
Speech and language disorder
Language Delay
Language Development Disorders
Language Disorders
Laryngeal Diseases
Laryngeal Edema
Laryngeal neoplasm
Laryngospasm
Laryngitis
Pharyngolaryngitis
Laryngostenosis
Laryngotracheitis
Lassa Fever
Handedness
Lathyrism
Laurence-Moon Syndrome
Lead Poisoning
Learning Disorders
Lecithin Acyltransferase Deficiency
Left Bundle-Branch Block
Left-Sided Heart Failure
"Ventricular Outflow Obstruction, Left"
Cramps of lower extremities
Leg Length Inequality
Pain in lower limb
Leg Ulcer
Legg-Calve-Perthes Disease
Legionellosis
Legionnaires' Disease
Leigh Disease
Fibroid Tumor
leiomyosarcoma
Leishmaniasis
"Leishmaniasis, Cutaneous"
Infection by Leishmania braziliensis
"Leishmaniasis, Visceral"
Lens Diseases
Lens Subluxation
Lentigo
Leprosy
Borderline leprosy
"Leprosy, Lepromatous"
Tuberculoid leprosy
Leptomeningitis
Leptospirosis
Lesch-Nyhan Syndrome
Lethargy
Letterer-Siwe Disease
leukemia
Chronic Lymphocytic Leukemia
Acute Basophilic Leukemia
"Leukemia, Eosinophilic, Acute"
Acute Erythroblastic Leukemia
"Leukemia, Experimental"
Hairy Cell Leukemia
Lymphoid leukemia
Acute lymphocytic leukemia
Childhood Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia
"Leukemia, Mast-Cell"
Acute Megakaryocytic Leukemias
Acute biphenotypic leukemia
Acute monocytic leukemia
"Leukemia, Monocytic, Chronic"
"Leukemia, Myelocytic, Acute"
Myeloid Leukemia
"Leukemia, Myeloid, Accelerated Phase"
"Myeloid Leukemia, Chronic"
"Leukemia, Myeloid, Chronic-Phase"
Acute myelomonocytic leukemia
"Leukemia, Myelomonocytic, Chronic"
Chronic Neutrophilic Leukemia
"Leukemia, Plasma Cell"
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Prolymphocytic Leukemia
Acute Promyelocytic Leukemia
"Leukemia, Radiation-Induced"
"Leukemia, T-Cell"
Adult T-Cell Lymphoma/Leukemia
"Leukemia, T-Cell, Chronic"
Leukemoid Reaction
White Blood Cell Count procedure
Leukocyte Disorders
Leukocytosis
Leukodystrophy
Globoid cell leukodystrophy
"Leukodystrophy, Metachromatic"
"Leukoencephalopathy, Progressive Multifocal"
"Leukomalacia, Periventricular"
Leukopenia
Leukoplakia
"Leukoplakia, Oral"
Leydig cell hyperplasia
Leydig Cell Tumor
Lichen disease
Lichen planus follicularis
Lichen Planus
Lichen Sclerosus et Atrophicus
Lichenification
Lichenification and lichen simplex chronicus
Lichenoid drug eruption
Linitis Plastica
"Lipid Metabolism, Inborn Errors"
Mucopolysaccharidosis I
Lipodystrophy
Whipple Disease
Lipoidosis
Lipoid Proteinosis of Urbach and Wiethe
Lipoma
Lipomatosis
"Lipomatosis, Multiple Symmetrical"
Lipomucopolysaccharidosis
Hyperlipoproteinemia Type I
liposarcoma
Listeriosis
Lithiasis
Little's Disease
Liver Abscess
"Liver Abscess, Amebic"
Liver Cirrhosis
"Liver Cirrhosis, Alcoholic"
Biliary cirrhosis
"Liver Cirrhosis, Experimental"
Liver diseases
Alcoholic Liver Diseases
"Liver Diseases, Parasitic"
Liver neoplasms
"Liver Neoplasms, Experimental"
Lobstein Disease
Locked-In Syndrome
Long QT Syndrome
Longevity
Lordosis
Louping Ill
Low Back Pain
Low T3 Syndrome
Lown-Ganong-Levine Syndrome
Lumpy Skin Disease
Lung Abscess
Lung diseases
"Lung Diseases, Fungal"
Chronic Obstructive Airway Disease
Lung Neoplasms
Lupus Vulgaris
"Lupus Erythematosus, Cutaneous"
"Lupus Erythematosus, Discoid"
"Lupus Erythematosus, Subacute Cutaneous"
"Lupus Erythematosus, Systemic"
Lupus Nephritis
Chilblain lupus 1
Lyme Disease
Lymphadenitis
Lymphangiectasis
"Lymphangiectasis, Intestinal"
Lymphangioma
lymphangiosarcoma
Lymphangitis
Lymphatic Diseases
Lymphatic Metastasis
Lymphedema
Lymphocele
Lymphocytic Choriomeningitis
Lymphocytosis
Lymphogranuloma Venereum
"Lymphohistiocytosis, Hemophagocytic"
Lymphoma
"Lymphoma, Follicular"
Reticulosarcoma
Small Cell Lymphoma
"Lymphoma, Mixed-Cell"
"Lymphoma, Non-Hodgkin"
"Lymphoma, Undifferentiated"
Lymphomatoid Granulomatosis
Lymphopenia
Lymphoproliferative Disorders
Machado-Joseph Disease
Waldenstrom Macroglobulinemia
Macroglossia
Macrostomia
Macular degeneration
Macular corneal dystrophy
"Macular Edema, Cystoid"
Macular Holes
Mycetoma
Maffucci Syndrome
Magnesium Deficiency
Majewski Syndrome
"Major depression, single episode"
Malabsorption Syndrome
Malaise and fatigue
Malaria
"Malaria, Cerebral"
"Malaria, Falciparum"
"Malaria, Vivax"
Malignant Carcinoid Syndrome
Malignant essential hypertension
Malignant hyperpyrexia due to anesthesia
Primary Malignant Liver Neoplasm
Malignant neoplasm of retina
Malignant neoplasm of stomach
"Malignant neoplasm of upper lobe, bronchus or lung"
Malocclusion
Animal Mammary Neoplasms
"Mammary Neoplasms, Experimental"
Mandibular Diseases
Mandibular Neoplasms
"Mange, Sarcoptic"
Manic Disorder
alpha-Mannosidosis
Mansonelliasis
Maple Syrup Urine Disease
Marburg Virus Disease
Paroxysmal nocturnal hemoglobinuria
Marek Disease
Marfan Syndrome
Marginal ulcer
Marijuana Abuse
Marinesco-Sjogren syndrome
Mastitis
Mastocytoma
Mastocytosis
"Mastocytosis, Bullous"
"Mastocytosis, Diffuse Cutaneous"
Mastodynia
Mastoiditis
Maxillary Diseases
Maxillary Neoplasms
Maxillary Sinus Neoplasms
Maxillary Sinusitis
Maximal Midexpiratory Flow Rate
Maximal Voluntary Ventilation
Measles
Meckel Diverticulum
Meconium Aspiration Syndrome
Mediastinal Cyst
Mediastinal Emphysema
Mediastinal Neoplasms
Mediastinitis
Medulloblastoma
Megacolon
Megaesophagus
Megakaryocytic hyperplasia
Meige Syndrome
Meigs Syndrome
Melancholia
melanoma
"Melanoma, Experimental"
Melanosis
Ocular melanosis
Conjunctival melanosis
Chloasma
Meleda Disease
Melena
Melioidosis
Melkersson-Rosenthal Syndrome
Melnick-Needles Syndrome
Melorheostosis
Memory Disorders
"Memory, Short-Term"
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Meniere Disease
Meningeal Neoplasms
Meningioma
Meningism
Meningitis
Aseptic Meningitis
"Meningitis, Listeria"
Meningococcal meningitis
"Meningitis, Pneumococcal"
Viral meningitis
Meningocele
Meningococcal Infections
Meningococcemia
Meningoencephalitis
Meningoencephalomyelitis
Meningomyelocele
Menopausal syndrome
Premature Menopause
Menorrhagia
"Menstruation, Retrograde"
Mental Retardation
"Mental Retardation, Psychosocial"
Mercury Poisoning
Mesenchymoma
Mesenteric Cyst
Mesenteric Lymphadenitis
Mesenteric Panniculitis
Mesenteric Vascular Occlusion
Mesonephroma
Mesothelioma
Metabolic Diseases
Inborn Errors of Metabolism
Metaplasia
Metatarsalgia
Methemoglobinemia
Metrorrhagia
"Microangiopathy, Diabetic"
Microcephaly
Microglossia
Micrognathism
Micromelia
Microphthalmos
Microstomia
Middle Lobe Syndrome
Mikulicz Disease
Mild Mental Retardation
Milk-Alkali Syndrome
Miosis disorder
Mirror Writing
Mitochondrial Swelling
Diseases of mitral valve
Mitral Valve Insufficiency
Mitral Valve Prolapse Syndrome
Mitral Valve Stenosis
Mixed Connective Tissue Disease
Mixed Salivary Gland Tumor
Moderate intellectual disability
Mohr Syndrome
Molluscum Contagiosum
Monoclonal Gammopathy of Undetermined Significance
Monoclonal paraproteinemia
Monosomy
Morphine Dependence
Motion Sickness
Motor Skills Disorders
"Dental Fluorosis, Acquired"
Mouth Abnormalities
Mouth Diseases
Mouth Neoplasms
Movement Disorders
Moyamoya Disease
Mucocele
Mucocele of appendix
Mucocele of salivary gland
Mucocutaneous Lymph Node Syndrome
Mucolipidoses
Mucopolysaccharidoses
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis V
Mucopolysaccharidosis VI
Mucormycosis
Multiple Carboxylase Deficiency
Multiple Epiphyseal Dysplasia
Multiple Myeloma
Multiple Organ Failure
Multiple Sclerosis
Dissociative Identity Disorder
Mumps
Muscle Cramp
Flaccid Muscle Tone
Muscle Hypertonia
Muscle hypotonia
Muscle Rigidity
Muscle Spasticity
Muscular Atrophy
Spinal Muscular Atrophy
Myopathy
Muscular Dystrophy
"Muscular Dystrophy, Animal"
Musculoskeletal Diseases
Musculoskeletal Pain
Mutism
Myasthenia Gravis
Mycobacterium avium-intracellulare Infection
Mycobacterium Infections
"Mycobacterium Infections, Nontuberculous"
Mycoplasma Infections
Mycoses
Mycosis Fungoides
Mydriasis
Myelitis
"Myelitis, Transverse"
Myelodysplasia
Myelofibrosis
Myeloid hyperplasia
"Acute Myeloid Leukemia, M1"
Myeloid Metaplasia
Myelomonocytic leukemia
Myeloproliferative disease
Myocardial Infarction
Myocardial Reperfusion Injury
Myocarditis
Myoclonic disorder
Myoclonus
Myoepithelioma
Myofascial Pain Syndromes
Myoglobinuria
Myoma
Myopia
Myosarcoma
Myositis
Myositis Ossificans
Myotonia
Myotonic Dystrophy
Myotonia Congenita
Myxedema
Myxoma
Nagana
Nail Diseases
Nail-Patella Syndrome
Narcissism
Narcolepsy
Opioid-Related Disorders
Nasal congestion (finding)
Nasal obstruction present finding
Nasal Polyps
Nasopharyngeal Diseases
Nasopharyngeal Neoplasms
Nasopharyngitis
Natal Teeth
Nausea
Nausea and vomiting
Neck Neoplasms
Necrosis
Avascular necrosis of bone
Necrotizing Scleritis
Negativism
Nelson Syndrome
Nematode infections
Neonatal Abstinence Syndrome
"Congenital, Hereditary, and Neonatal Diseases and Abnormalities"
Neonatal hepatitis
Neoplasm Invasiveness
Neoplasm Metastasis
"Neoplasm Recurrence, Local"
Neoplasm Seeding
Neoplasms
Embryonal Neoplasm
"Neoplasms, Connective Tissue"
"Neoplasms, Germ Cell and Embryonal"
"Neoplasms, Experimental"
"Neoplasms, Glandular and Epithelial"
"Neoplasms, Hormone-Dependent"
Multiple Endocrine Neoplasia
"Neoplasms, Multiple Primary"
"Neoplasms, Nerve Tissue"
"Neoplasms, Radiation-Induced"
"Neoplasms, Vascular Tissue"
"Neoplastic Syndromes, Hereditary"
Pathologic Neovascularization
Nephritis
Hereditary nephritis
"Nephritis, Interstitial"
Nephroblastoma
Nephrocalcinosis
Nephrosclerosis
Nephrosis
Lipoid nephrosis
Nephrotic Syndrome
Nerve compression syndrome
Nerve Degeneration
nervous system disorder
Nervous System Neoplasms
Nervousness
Nesidioblastosis
Neural Tube Defects
Neuralgia
Neurasthenia
Neurenteric Cyst
Neurilemmoma
Neuritis
"Neuritis, Autoimmune, Experimental"
Neuroblastoma
Neurocirculatory Asthenia
Neurodermatitis
neurofibroma
Neurofibromatosis 1
Neurofibromatosis 2
Neuroleptic Malignant Syndrome
Neurologic Manifestations
Neuroma
Acoustic Neuroma
Neuromuscular Diseases
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Hereditary Motor and Sensory Neuropathies
Hereditary Sensory and Autonomic Neuropathies
Neuropsychological Tests
Neurosyphilis
Neurotic Disorders
Neutropenia
Nevus
Nevus of Ota
Melanocytic nevus
Newcastle Disease
Nicotine Dependence
Nicotine withdrawal
Niemann-Pick Diseases
Nyctalopia
Night sweats
Nightmares
Nocardia Infections
Nodule
"Organic Brain Syndrome, Nonpsychotic"
Noonan Syndrome
Crusted scabies
Nose Diseases
Nose Neoplasms
Numbness
Nocturia
Nystagmus
Obesity
"Obesity, Morbid"
Obsessive-Compulsive Disorder
Cerebral artery occlusion
"Dermatitis, Occupational"
Occupational Diseases
Ochronosis
Ocular Headache
Ocular Hypertension
Ocular Hypotension
Ocular Larva Migrans
Ocular Motility Disorders
Oculocerebrorenal Syndrome
Oculomotor Nerve Paralysis
Odontogenesis Imperfecta
Odontogenic Cysts
Odontogenic Tumors
Odontoma
oligodendroglioma
Oligomenorrhea
Oligospermia
Oliguria
Olivopontocerebellar Atrophies
Onchocerciasis
"Onchocerciasis, Ocular"
Oophoritis
"Ophthalmia, Sympathetic"
Ophthalmoplegia
Opioid abuse
Opioid withdrawal
Opisthorchiasis
Opportunistic Infections
Oppositional Defiant Disorder
Optic Atrophy
"Optic Atrophies, Hereditary"
Optic Disk Drusen
Abnormality of the optic nerve
Disorder of the optic nerve
Optic Neuritis
Oral Hemorrhage
Oral Manifestations
Oral Submucous Fibrosis
orbit (eye disorders)
Orchitis
"Hallucinations, Organic"
"Delirium, Dementia, Amnestic, Cognitive Disorders"
"Organic Mental Disorders, Psychotic"
"Organic Mental Disorders, Substance-Induced"
Orgasmic Disorder
Psittacosis
Orofaciodigital Syndromes
Oropharyngeal Neoplasms
Oroya Fever
Orthomyxoviridae Infections
Juvenile osteochondrosis of tibial tubercle
Heterotopic Ossification
Osteitis
Osteitis Deformans
Osteitis Fibrosa Cystica
Degenerative polyarthritis
Osteoarthritis of hip
"Osteoarthropathy, Primary Hypertrophic"
Osteoblastoma
Osteochondritis Dissecans
Osteochondrodysplasias
Cartilaginous exostosis
Synovial osteochondromatosis
Osteochondrosis
Osteogenesis Imperfecta
Idiopathic Multicentric Osteolyses
Massive Osteolyses
Osteoma
Osteoid osteoma
Osteomalacia
Osteomyelitis
Bone necrosis
Osteopenia
Osteopetrosis
Osteopoikilosis (disorder)
Osteoporosis
"Osteoporosis, Postmenopausal"
"Osteoporosis, Senile"
Osteosarcoma
Osteosclerosis
Other acute reactions to stress
Other alopecia
Other and unspecified reactive psychosis
Other cataract
Other dermatoses
Other eating disorders
Other disorders of lipoid metabolism
Other emphysema
Other heart block
Other specified diseases of pancreas
"Other specified forms of pleural effusion, except tuberculous"
Other specified hemorrhagic conditions
Other specified iron deficiency anemias
Other specified peritonitis
Other specified schistosomiasis
Other ureteric obstruction
Ear Inflammation
Otitis Externa
Otitis Media
Otitis Media with Effusion
Otorhinolaryngologic Diseases
Otorhinolaryngologic Neoplasms
Otosclerosis
Ovarian Carcinoma
Ovarian Cysts
Ovarian Diseases
Overanxious disorder
Drug Overdose
Acrocephaly
Ozena (disorder)
Pachymeningitis
"Paget's Disease, Mammary"
Paget Disease Extramammary
Pain
Pain in limb
"Pain, Intractable"
"Pain, Postoperative"
"Myoclonus, Palatal"
Palatal Neoplasms
Pallor
Pustulosis of Palms and Soles
Palpitations
Pancreatic Cyst
Pancreatic Diseases
Pancreatic Fistula
Pancreatic Insufficiency
Pancreatic Neoplasm
Pancreatic Pseudocyst
Pancreatitis
Pancytopenia
Panic Disorder
Panniculitis
"Panniculitis, Lupus Erythematosus"
"Panniculitis, Nodular Nonsuppurative"
Panuveitis
Papilledema
Papilloma
Papillon-Lefevre Disease
Parainfluenza
Paracoccidioidomycosis
Paraganglioma
Extra-Adrenal Paraganglioma
Paragonimiasis
Parakeratosis
Parakeratosis Variegata
Progressive bulbar palsy
Familial Periodic Paralysis
Paralytic Ileus
Paranasal Sinus Disorder
Paranasal Sinus Neoplasms
Paraneoplastic Syndromes
Tropical Spastic Paraparesis
Paraplegia
Paraproteinemias
Parapsoriasis
Parasitic Diseases
Parasomnia
Parathyroid Diseases
Parathyroid Neoplasms
Paratuberculosis
Paratyphoid Fever
Paresis
Paresthesia
Parkinson Disease
"Parkinson Disease, Postencephalitic"
Secondary Parkinson Disease
Paronychia Inflammation
Parotid Neoplasms
Parotitis
Paroxysmal atrial tachycardia
Paroxysmal supraventricular tachycardia
Paroxysmal ventricular tachycardia
Activated Partial Thromboplastin Time measurement
Passive Cutaneous Anaphylaxis
"Gambling, Pathological"
Pediculus capitis infestation
Pelger-Huet Anomaly
Peliosis Hepatis
Pelvic Neoplasms
Pelvic Pain
"Pemphigoid, Benign Mucous Membrane"
Bullous pemphigoid
Pemphigus
Pemphigus Vulgaris
Allergy to penicillin
Penile Diseases
Peyronie Disease
Penile Neoplasms
Peptic Ulcer
Peptic Ulcer Hemorrhage
Peptic Ulcer Perforation
Perceptual Disorders
Perianal abscess
Chronic periaortitis
Suppurative Periapical Periodontitis
Periapical Diseases
Periapical Granuloma
Periapical Periodontitis
Polyarteritis Nodosa
Pericardial effusion
Pericarditis
"Pericarditis, Constrictive"
"Pericarditis, Tuberculous"
Pericementitis
Familial Mediterranean Fever
Periodontal Abscess
Periodontal Diseases
Periodontal Pocket
Periodontitis
Aggressive Periodontitis
Periostitis
Peripheral angiopathy in diseases classified elsewhere
Peripheral Neuropathy
Peripheral Nervous System Neoplasms
Peripheral neuralgia
Peritoneal Diseases
Chronic peritoneal effusion (disorder)
Peritoneal Neoplasms
Peritonitis
Peritonsillar Abscess
Persistent Fetal Circulation Syndrome
Persistent Ostium Primum
Personality Disorders
Petechiae
Peutz-Jeghers Syndrome
Phagocyte Bactericidal Dysfunction
Pharyngeal Neoplasms
Pharyngitis
Pharyngo-Conjunctival Fever
PHENCYCLIDINE/ARYLCYCLOHEXYLAMINE ABUSE
Phencyclidine Abuse
Phenylketonurias
Pheochromocytoma
Phimosis
Phlegmon
"Phobia, Social"
Phocomelia
Polymorphous light eruption
Photosensitivity Disorders
Pica Disease
Obesity Hypoventilation Syndrome
Picornaviridae Infections
Pierre Robin Syndrome
Pigeon Breeder's Lung
Pigmentation
Pilonidal Cyst
Pineal Gland Neoplasm
Pinta
Pituitary Adenoma
Pituitary Apoplexy
Pituitary Diseases
Pituitary Neoplasms
Pityriasis Rosea
Pityriasis Rubra Pilaris
Placenta Accreta
Placenta Disorders
Placental Insufficiency
Placentitis (disorder)
Plague
Plasma cell mastitis
Plasmacytoma
Platelet aggregation
Platelet Count measurement
Platelet Storage Pool Deficiency
Platybasia
Pleural Diseases
Pleural effusion disorder
Pleural Neoplasms
Pleural Rub
Pleurisy
Pleuropneumonia
Pneumocephalus
Pneumococcal Infections
Pneumoconiosis
Pneumonia
Aspiration Pneumonia
"Pneumonia, Lipid"
Lobar Pneumonia
Mycoplasma pneumonia
Staphylococcal Pneumonia
"Pneumonia, Viral"
Pneumoperitoneum
Pneumothorax
Rothmund-Thomson syndrome
Poland Syndrome
Poliomyelitis
"Polychondritis, Relapsing"
Polycystic Ovary Syndrome
Polycythemia
Polycythemia Vera
Polymyalgia Rheumatica
Polyneuritis
Inflammatory polyp
Polyploidy
Adenomatous Polyposis Coli
polyps
Polyradiculopathy
Polyradiculoneuropathy
Polysubstance dependence
Polyuria
Disorders of Porphyrin Metabolism
Post-kala-azar dermal leishmaniasis
Postherpetic neuralgia
Postoperative Complications
Postpartum Amenorrhea
Postpartum Hemorrhage
Postpericardiotomy Syndrome
Postphlebitic Syndrome
Potassium Deficiency
Poxviridae Infections
Prader-Willi Syndrome
Pre-Eclampsia
Preexcitation Syndrome
Precancerous Conditions
Pregnancy Complications
"Pregnancy Complications, Cardiovascular"
"Pregnancy Complications, Infectious"
Pregnancy in Diabetics
Ectopic Pregnancy
"Pregnancy, Tubal"
Preleukemia
Atrial Premature Complexes
Premature Ejaculation
Premenstrual syndrome
Prenatal Exposure Delayed Effects
Presbycusis
Presbyopia
Pretibial myxedema
Priapism
Acanthamoeba Infection
"Cerebellar Degenerations, Primary"
Primary Hypersomnia
Primary Insomnia
"Cardiomyopathies, Primary"
Proctitis
Proctocolitis
Progeria
Prognathism
Prolactinoma
Ptosis
Prostatic Diseases
Prostatic Neoplasms
Prostate nodule
prostatitis
Prosthesis Loosening
Protein Deficiency
Protein-Energy Malnutrition
Protein-Losing Enteropathies
Proteinuria
Prothrombin time assay
Protothecosis
Protozoan Infections
Prune Belly Syndrome
Prurigo
Pruritus
Pruritus Ani
Pseudarthrosis
Pseudo-Hurler Polydystrophy
Pseudobulbar Palsy
Pseudocoloboma
Pseudodementia
Pseudogout
Pseudohermaphroditism
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudomonas Infections
Pseudomyxoma Peritonei
Psychological pseudocyesis
Pseudopseudohypoparathyroidism
Kimura Disease
Pseudorabies
Pseudotumor
Pseudotumor Cerebri
Pseudoxanthoma Elasticum
Psoriasis
Tension Headache
Psychomotor Disorders
Psychomotor Performance
Psychophysiologic Disorders
"Psychoses, Alcoholic"
"Psychoses, Drug"
"Psychoses, Substance-Induced"
"Psychoses, Traumatic"
Psychosexual Disorders
"Psychosis, Brief Reactive"
Psychotic Disorders
Pterygium
Delayed Puberty
Precocious Puberty
Puerperal Disorders
Pulmonary Alveolar Proteinosis
Pulmonary Edema
Pulmonary Embolism
Pulmonary embolism with pulmonary infarction
Pulmonary Emphysema
Pulmonary Eosinophilia
Pulmonary Fibrosis
Cor pulmonale
Pulmonary Infarction
Pulmonary Valve Insufficiency
Pulmonary Valve Stenosis
Pulmonary Veno-Occlusive Disease (disorder)
Pulpitis
"Purine-Pyrimidine Metabolism, Inborn Errors"
Purpura
Henoch-Schoenlein Purpura
"Purpura, Thrombotic Thrombocytopenic"
Pyelocystitis
Pyelonephritis
"Pyelonephritis, Xanthogranulomatous"
Pyemia
Pyloric Stenosis
Pyoderma
Pyometra
Pyonephrosis
Alveolar pyorrhea
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
"Pyruvate Metabolism, Inborn Errors"
Q Fever
Quadriplegia
Rabies (disorder)
Radiation Syndrome
Radicular Cyst
Radiculitis
Rales
Raynaud Disease
Raynaud Phenomenon
Hyperacusis
Rectal Diseases
Rectal Neoplasms
Rectal polyp
Rectal Prolapse
Rectovaginal Fistula
Pure Red-Cell Aplasia
Reflex Sympathetic Dystrophy
"Reflex, Abnormal"
Babinski Reflex
Refractive Errors
Refsum Disease
Reiter Syndrome
Relapsing Fever
Tick-borne relapsing fever
Renal Artery Obstruction
Renal Artery Stenosis
Kidney Failure
Renal infarction
Renal Osteodystrophy
"Renal Tubular Transport, Inborn Errors"
Reoviridae Infections
Reperfusion Injury
Cumulative Trauma Disorders
Respiration Disorders
"Respiratory Distress Syndrome, Newborn"
"Respiratory Distress Syndrome, Adult"
Respiratory Function Tests
Respiratory Hypersensitivity
Respiratory Insufficiency
Respiratory Paralysis
Respiratory Sounds
Respiratory Syncytial Virus Infections
Congenital abnormality of respiratory system
Respiratory Tract Diseases
Respiratory Tract Infections
Restless Legs Syndrome
Retention cyst
"Reticuloendotheliosis, X-linked"
Reticulohistiocytic granuloma
Abnormal retinal morphology
Retinal Artery Occlusion
Retinal Degeneration
Retinal Detachment
Retinal Diseases
Retinal Drusen
Retinal Dysplasia
Retinal Hemorrhage
"Retinal Necrosis Syndrome, Acute"
Retinal Neovascularization
Retinal Perforations
Retinal vascular occlusion
Retinal Vein Occlusion
Retinitis
Retinitis Pigmentosa
Retinoblastoma
Retinopathy of Prematurity
Congenital retrognathism
Retrograde Degeneration
Retroviridae Infections
Rett Syndrome
Reye Syndrome
Rhabdomyolysis
Rhabdomyoma
Rhabdomyosarcoma
Rheumatism
Rheumatic Fever
Rheumatic Heart Disease
Acute rheumatic heart disease
Rheumatoid Nodule
Rhinitis
"Rhinitis, Allergic, Perennial"
"Rhinitis, Vasomotor"
Rhinoscleroma
Rhinosporidiosis
Rhonchi
Riboflavin Deficiency
Rickets
Rickettsia Infections
Rift Valley Fever
Right aortic arch (disorder)
"Ventricular Outflow Obstruction, Right"
Rinderpest
Rocky Mountain Spotted Fever
Romano-Ward Syndrome
Root Resorption
Rosacea
Rotavirus Infections
Rubella
Congenital Rubella Syndrome
Rubinstein-Taybi Syndrome
Saldino-Noonan Syndrome
Sialolithiasis
Salivary Gland Diseases
Salivary Gland Neoplasms
Salmonella infections
"Salmonella Infections, Animal"
Salpingitis
Sandhoff Disease
Sarcoidosis
Cutaneous sarcoidosis
"Sarcoidosis, Pulmonary"
Sarcoma 180
"Sarcoma, Engelbreth-Holm-Swarm"
"Sarcoma, Experimental"
"Sarcoma, Jensen"
Kaposi Sarcoma
Mast-Cell Sarcoma
"Sarcoma, Yoshida"
Sarcocystosis
Burn scar
Scarlet Fever
Schamberg Disease
Scheuermann's Disease
Schistosomiasis
Schistosomiasis japonica
Schistosomiasis mansoni
Schizoaffective Disorder
Schizoid Personality Disorder
Schizophrenia
"Schizophrenia, Catatonic"
"Schizophrenia, Childhood"
"Schizophrenia, Disorganized"
Paranoid Schizophrenia
Residual schizophrenia
Schizophreniform Disorders
Schizotypal Personality Disorder
Schwartz-Jampel Syndrome
Sciatica
Scimitar Syndrome
Scleredema Adultorum
Scleritis
Localized scleroderma
Systemic Scleroderma
Sclerosis
"Scoliosis, unspecified"
Scotoma
Scrapie
Scrub Typhus
Scurvy
Sea-Blue Histiocyte Syndrome
Sebaceous Gland Diseases
Sebaceous Gland Neoplasms
Seborrheic dermatitis
"Myocardial Diseases, Secondary"
Seizures
Seminoma
Age-related cataract
Solar lentigo
Sensation Disorders
"Septicaemia due to gram-negative organism, unspecified"
Gram positive sepsis
Streptococcal sore throat
Septicemia
Serositis
Sertoli Cell Tumor
SERUM CHLORIDE ION TESTS
Serum Sickness
Serum total protein measurement
Severe intellectual disability
Sex Chromosome Aberrations
Disorders of Sex Development
Sexual Arousal Disorder
Sexual desire disorder
Sexual Sadism
Sexually Transmitted Diseases
"Sexually Transmitted Diseases, Bacterial"
Sezary Syndrome
Shared Paranoid Disorder
Shivering
Shock
"Shock, Cardiogenic"
Endotoxic shock
"Shock, Hemorrhagic"
Septic Shock
"Shock, Traumatic"
Short Bowel Syndrome
Short Rib-Polydactyly Syndrome
Shoulder Pain
Shwartzman Phenomenon
Shy-Drager Syndrome
Shyness
Sialadenitis
Sialorrhea
Sick Building Syndrome
Sick Sinus Syndrome
Sickle Cell Trait
Siderosis
"Signs and Symptoms, Respiratory"
Silicosis
B Virus Infection
Simple cyst
Sinoatrial Block
"Sinus Thrombosis, Intracranial"
Sinusitis
Sirenomelia
Situs Inversus
Sjogren-Larsson Syndrome
Skin Abnormalities
Dermatologic disorders
"Skin Diseases, Genetic"
"Skin Diseases, Infectious"
"Skin Diseases, Parasitic"
Skin lesion
Skin Manifestations
Skin Neoplasms
Skin nodule
Skin Pigmentation
Skin tag
Skin Ulcer
Skin Wrinkling
Sleep Apnea Syndromes
Sleep Deprivation
Sleep disturbances
Smallpox
Smoking
Sneezing
Snoring
Soft Tissue Neoplasms
Somatoform Disorder
Somatostatinoma
Somnambulism
Sparganosis
Spasm
Spasmophilia
West Syndrome
"Paraparesis, Spastic"
Spastic Paraplegia
"Spastic Paraplegia, Hereditary"
Specific reading disorder
Speech Disorders
Speech Perception
Spermatic Cord Torsion
Spermatocele
Hereditary spherocytosis
Sphingolipidoses
Spina Bifida Cystica
Compression of spinal cord
Spinal Cord Diseases
Spinal Cord Neoplasms
Curvature of spine
Spinal Diseases
Spinal Neoplasms
Spinal Osteophytosis
Spinal Stenosis
Spinocerebellar Degeneration
Spirochaetales Infections
Splenic Diseases
Splenic Infarction
Splenic Neoplasms
Splenomegaly
Spondylitis
Ankylosing spondylitis
Spondyloepiphyseal Dysplasia
Spondylolisthesis
Congenital spondylolisthesis
Spondylolysis
Spondylosis
Sporotrichosis
Spotted Fever Group Rickettsiosis
Stammering
Staphylococcal Food Poisoning
Staphylococcal Infections
Staphylococcal Scalded Skin Syndrome
Staphylococcal Skin Infections
Starvation
Status Asthmaticus
Status Dysraphicus
Status Epilepticus
Steatorrhea
Stereotyped Behavior
Stereotypic Movement Disorder
"Sterility, Postpartum"
Stevens-Johnson Syndrome
Stomach Diseases
Stomach Diverticulum
Stomach Neoplasms
Gastric ulcer
Stomatitis
Aphthous Stomatitis
"Stomatitis, Denture"
Stomatognathic Diseases
Strabismus
Streptococcal Infections
Streptozotocin Diabetes
Post-Traumatic Stress Disorder
Female stress incontinence
"Stress Disorders, Traumatic"
"Stress, Psychological"
Stricture of artery
Stridor
Cerebrovascular accident
"Stromal Dystrophies, Corneal"
Strongyloidiasis
Double structure
Supernumerary structure
Struma Ovarii
Sturge-Weber Syndrome
Stuttering
Subacute Sclerosing Panencephalitis
Subarachnoid Hemorrhage
Subchondral Cysts
Subdural Effusion
"Empyema, Subdural"
Submandibular Gland Diseases
Substance Dependence
Substance Use Disorders
Substance Withdrawal Syndrome
Subungual exostoses
Subungual hyperkeratosis
Sudden infant death syndrome
Suicide
Suicide attempt
Superinfection
Superior Mesenteric Artery Syndrome
Superior Vena Cava Syndrome
Superior Vena Cava Thrombosis
Progressive supranuclear palsy
"Neuralgia, Supraorbital"
Supratentorial Neoplasms
Surgical Wound Dehiscence
Sweat Gland Neoplasms
Swine Vesicular Disease
Syncope
Syndactyly
Congenital abnormal Synostosis
synovial sarcoma
Synovitis
Synovitis and tenosynovitis
Pigmented villonodular synovitis
Syphilis
"Syphilis, Latent"
Syringomyelia
Syrinx formation
Tabes Dorsalis
Tachycardia
"Tachycardia, Atrioventricular Nodal Reentry"
"Tachycardia, Ectopic Atrial"
"Tachycardia, Ectopic Junctional"
Sinus Tachycardia
Supraventricular tachycardia
Teniasis
Takayasu Arteritis
Talipes cavus
Tangier Disease
Taste Disorders
Tay-Sachs Disease
Hereditary hemorrhagic telangiectasia
Telangiectasis
Temperament
Giant Cell Arteritis
Temporomandibular Joint Disorders
Temporomandibular Joint Dysfunction Syndrome
Tendinitis
Tennis Elbow
Tenosynovitis
Teratoma
Testicular Diseases
Androgen-Insensitivity Syndrome
Testicular Neoplasms
Tetanus
Tetany
Tetralogy of Fallot
Thalassemia
Thanatophoric Dysplasia
Thecoma
Thiamine Deficiency
Thinness
Thoracic Diseases
Thoracic Neoplasms
Thoracic Outlet Syndrome
Thrombasthenia
Thromboangiitis Obliterans
"Thrombocythemia, Essential"
Thrombocytopenia
Thromboembolism
Thrombophlebitis
Thrombosis
Thymic Cyst
Thymoma
Thymus Hyperplasia
Thyroglossal Cyst
Thyroid Crisis
Thyroid Diseases
Thyroid Neoplasm
Thyroid Nodule
Thyroiditis
Subacute thyroiditis
Thyrotoxicosis
Tic disorder
Tick-borne fever
Tietze's Syndrome
Tinea
Tinea Capitis
Tinea corporis (disorder)
Tinea of perianal region
Tinea Pedis
Onychomycosis
Tinea Versicolor
Tinnitus
Tobacco Dependence
Tongue Diseases
Tongue Neoplasms
Fissured tongue
Tonic Pupil
Tonometry
Tonsillar Neoplasms
Tonsillitis
Tooth Abnormalities
Tooth Crowding
Tooth Diseases
"Tooth, Supernumerary"
Unerupted tooth
Toothache
Torsades de Pointes
Torticollis
Gilles de la Tourette syndrome
Septic Toxemia
Toxoplasmosis
"Toxoplasmosis, Animal"
"Toxoplasmosis, Congenital"
Ocular Toxoplasmosis
Tracheal Diseases
Tracheal Stenosis
Tracheoesophageal Fistula
Trachoma
Transient Tic Disorder
Chromosomal translocation
Transposition of Great Vessels
Trematode Infections
Tremor
Saturnine Tremor
Trichinellosis
Trichomonas Infections
Trichostrongyloidiasis
Trichotillomania
Infection by Trichuris trichiura
Tricuspid Valve Insufficiency
Tricuspid Valve Prolapse
Tricuspid Valve Stenosis
Trigeminal Neuralgia
Trismus
Trisomy
Trophoblastic Neoplasms
Tropical pyomyositis
"Truncus Arteriosus, Persistent"
Trypanosomiasis
African Trypanosomiasis
Chagas Disease
Tuberculoma
Tuberculosis
"Tuberculosis, Bovine"
"Tuberculosis, Cutaneous"
"Tuberculosis, Female Genital"
"Tuberculosis, Gastrointestinal"
"Tuberculosis, Laryngeal"
Lymph Node Tuberculosis
"Tuberculosis, Meningeal"
"Tuberculosis, Miliary"
"Tuberculosis, Ocular"
"Tuberculosis, Oral"
"Tuberculosis, Osteoarticular"
"Peritonitis, Tuberculous"
Pleural Tuberculosis
"Tuberculosis, Pulmonary"
"Tuberculosis, Renal"
"Tuberculosis, Spinal"
Tuberculosis of other urinary organs
Tuberous Sclerosis
Tubo-ovarian abscess
"Nephritis, Tubulointerstitial"
Tularemia
Tumor Lysis Syndrome
Turner Syndrome
"Turner Syndrome, Male"
Typhoid Fever
TYPHUS
Ulcer
Uncomplicated alcohol withdrawal
Unconscious State
Underweight
Attention Deficit Disorder
Undifferentiated somatoform disorder
Unipolar Depression
Adverse reaction to drug
Deficiency anemias
Erythema
Unspecified idiopathic peripheral neuropathy
Upper Respiratory Infections
Urachal Cyst
Uremia
Ureterolithiasis
Ureteral Neoplasms
Ureteral obstruction
Ureterocele
Urethral Neoplasms
Urethral Obstruction
Urethral Stenosis
Urethritis
Urinary Calculi
Increased frequency of micturition
Urinary Incontinence
Urinary Stress Incontinence
Urinary tract infection
Urination Disorders
Urogenital Abnormalities
Genitourinary Neoplasms
Urologic Diseases
Urologic Neoplasms
Urticaria
Urticaria Pigmentosa
Uterine Diseases
Uterine Fibroids
Uterine hemorrhage
Infection of uterus
Uterine Neoplasms
Uterine Prolapse
Uterine Rupture
Uveitis
Anterior uveitis
"Uveitis, Intermediate"
"Uveitis, Posterior"
Uveomeningoencephalitic Syndrome
Uveoparotid Fever
Malignant Vaginal Neoplasm
Vaginal Diseases
Vaginal Neoplasms
Vaginitis
Varicocele
Varicose Ulcer
Varicosity
Vascular Diseases
Vasculitis
"Vasculitis, Hemorrhagic"
Vasitis
Vasovagal syncope
Velopharyngeal Insufficiency
Venous Engorgement
Venous Insufficiency
Venous Thrombosis
Ventricular Fibrillation
Ventricular Outflow Obstruction
"Tachycardia, Ventricular"
Plantar wart
Vertebrobasilar Insufficiency
Vertigo
Vesico-Ureteral Reflux
Vesicovaginal Fistula
Vestibular Diseases
"Neuralgia, Vidian"
Violence
Viral hepatitis
Viremia
Virus Diseases
Visceral Myopathy
Visceromegaly
Vision Disorders
Low Vision
Visual discomfort
Vital capacity
Vitamin A Deficiency
Vitamin B 12 Deficiency
Vitamin B Deficiency
Vitamin D Deficiency
Vitamin E Deficiency
Vitamin K Assay
Vitamin K Deficiency
Vitiligo
Vitreous Detachment
Vitreous Hemorrhage
Vocal Cord Paralysis
Polyp of vocal cord
Voice Disorders
Intestinal Volvulus
Vomiting
von Willebrand Disease
Vulvar Diseases
Vulvar Neoplasms
Vulvovaginitis
Lateral Medullary Syndrome
Wallerian Degeneration
Common wart
Wasting Syndrome
Water Intoxication
Water-Electrolyte Imbalance
Weight Gain
Weil Disease
HMN (Hereditary Motor Neuropathy) Proximal Type I
Werner Syndrome
Wernicke Encephalopathy
West Nile Fever
Wheezing
Dental White Spot
Pertussis
Whooping cough due to unspecified organism
Wiskott-Aldrich Syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
Juvenile Xanthogranuloma
Xanthomatosis
Xeroderma
Xeroderma Pigmentosum
Xerophthalmia
Xerostomia
XYY Karyotype
Yellow Fever
Yersinia infections
Zellweger Syndrome
Zollinger-Ellison syndrome
Zoonoses
Zygomycosis
Accelerated Idioventricular Rhythm
AIDS-Associated Nephropathy
"Albinism, Ocular"
"Albinism, Oculocutaneous"
"Albinism, Tyrosinase-Negative"
"Albinism, Tyrosinase-Positive"
"Albinism, Yellow-Mutant"
Arachnoid Cysts
Arhinencephaly
Bradyarrhythmia (disorder)
Branchial Clefts-Congenital disorder
Cerebral Thrombosis
Cockayne-Touraine Disease
"Hyperkeratosis, Epidermolytic"
Congenital Nonbullous Ichthyosiform Erythroderma
"Fibromatosis, Aggressive"
Determination of Death
Digestive System Fistula
Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex Kobner
Junctional Epidermolysis Bullosa
Congenital torticollis
Hallopeau-Siemens Disease
Heart Valve Prolapse
Helicobacter Infections
Hermanski-Pudlak Syndrome
Holoprosencephaly
"Ichthyosiform Erythroderma, Congenital"
Ichthyosis Vulgaris
"Ichthyosis, X-Linked"
Klein's Syndrome
Lentivirus Infections
Herlitz Disease
B-Cell Lymphomas
High Grade Lymphoma (neoplasm)
"Lymphoma, Intermediate-Grade"
Diffuse Large B-Cell Lymphoma
"Lymphoma, Large-Cell, Follicular"
Immunoblastic Large-Cell Lymphoma
Low Grade Lymphoma (neoplasm)
Precursor cell lymphoblastic lymphoma
Diffuse Mixed-Cell Lymphoma
"Lymphoma, Mixed-Cell, Follicular"
"Lymphoma, Small Cleaved-Cell, Follicular"
"Lymphoma, Small Noncleaved-Cell"
T-Cell Lymphoma
"Lymphoma, T-Cell, Cutaneous"
Peripheral T-Cell Lymphoma
Milk Allergy
Oligohydramnios
Piebaldism
"Pleural Effusion, Malignant"
Spina Bifida Occulta
Spina Bifida
Tachyarrhythmia
Tethered Cord Syndrome
Tooth Loss
Urinary Retention
Disorder of the genitourinary system
Left Ventricular Function
Weber-Cockayne Syndrome
Smear Layer
Granuloma Annulare
Sweet Syndrome
Lysosomal Storage Diseases
Fungemia
Ovarian Hyperstimulation Syndrome
Motor Neuron Disease
"Lymphoma, AIDS-Related"
Peripheral Vascular Diseases
Familial benign pemphigus
Corneal Neovascularization
Severe Combined Immunodeficiency
Foot Ulcer
"Cardiac Output, High"
Bronchial Hyperreactivity
Gangliosidosis GM1
Mucopolysaccharidosis VII
Central Nervous System Neoplasms
Choroid Plexus Neoplasms
Seasonal Affective Disorder
Hidradenitis
"Leukemia, Feline"
Bacterial Vaginosis
Granular cell tumor
Eosinophilia-Myalgia Syndrome
"Neoplasms, Second Primary"
Gestational Diabetes
"Ovarian Failure, Premature"
Cerebral Amyloid Angiopathy
Psoas Abscess
Zenker Diverticulum
Adult-Onset Still Disease
Yang Deficiency
Proteus Syndrome
"Plasma Cell Granuloma, Pulmonary"
Orbital Pseudotumor
Self-Injurious Behavior
Erythema Infectiosum
Antiphospholipid Syndrome
Alagille Syndrome
Addictive Behavior
Stiff-Person Syndrome
Hepatitis E
Sudden Cardiac Death
Embolism and Thrombosis
Diffuse cutaneous leishmaniasis
Blastocystis Infections
"Toxoplasmosis, Cerebral"
Intracranial Tuberculoma
Li-Fraumeni Syndrome
Ureaplasma Infections
Neisseriaceae Infections
Pasteurellaceae Infections
Ehrlichiosis
Neurofibrillary degeneration (morphologic abnormality)
POEMS Syndrome
Microsporidiosis
"Polyendocrinopathies, Autoimmune"
Angiodysplasia
Encephalitozoonosis
"Polycystic Kidney, Autosomal Dominant"
"Epilepsy, Complex Partial"
Gram-Negative Bacterial Infections
Gram-Positive Bacterial Infections
"Angiomatosis, Bacillary"
"Arthritis, Reactive"
"Meningitis, Cryptococcal"
"Meningitis, Bacterial"
"Meningitis, Fungal"
"Epilepsy, Frontal Lobe"
Epilepsia Partialis Continua
"Phenylketonuria, Maternal"
Autosomal Recessive Polycystic Kidney Disease
Buruli Ulcer
"Metabolic acidosis, NAG, acidifying salts"
Hypokalemic alkalosis
Palindromic rheumatism
Iron-Refractory Iron Deficiency Anemia
Normocytic anemia
Thalassemia Minor
Essential Hypertension
Restrictive lung disease
Retrobulbar Neuritis
Choreoathetosis
Encephalopathies
Chills
Fever with chills
Body odor
Polydipsia
Liver Failure
Urgency of micturition
Sinus bradycardia
Atrial arrhythmia
Ventricular arrhythmia
First degree atrioventricular block
Right bundle branch block
Orthopnea
Flaccid paralysis
Monoplegia
Akinesia
Burning sensation
Hypoalgesia
Stupor
Agitation
Apathy
Mood swings
Photopsia
Photophobia
Oculogyric crisis
Falls
Livedo Reticularis
Synovial Cyst
Peripheral edema
Purpura Fulminans
Pyoderma Gangrenosum
Pyogenic granuloma
Polymyositis
Erythema marginatum
Aseptic necrosis
Onycholysis
Macrocytosis
Plasmacytosis
Spider nevus
Secondary carcinoma
Acute leukemia
Alcoholic Neuropathy
Hyperchloremia
Hypochloremia (disorder)
Hyperphosphatemia (disorder)
Hypophosphatemia
Foot Drop
Hemorrhagic cystitis
Acute appendicitis NOS (disorder)
Chronic cholecystitis
Chronic gastritis
Chronic prostatitis
Chronic pyelonephritis
Cardiac cirrhosis
Chondromalacia
Monocytosis
Mendelson Syndrome
Adenosis of Breast
"Aganglionosis, Colonic"
Alcohol abuse
Hamman-Rich syndrome
"Aneurysm, Mycotic"
Polyglandular Type I Autoimmune Syndrome
"Autoimmune Syndrome Type II, Polyglandular"
Brachial Neuralgia
soft neurological signs
Bullous Dermatitis
"Infections, Bunyavirus"
Child Development Deviations
"Child Development Disorders, Specific"
Codependency
"Decayed, Missing, and Filled Teeth"
Depressive Symptoms
Depressive Syndrome
Dissociation
Intravenous Drug Abuse
Drug Withdrawal Symptoms
"Eczema, Infantile"
Emotional Stress
Enterobiasis
"Epilepsy, Atonic"
"Epilepsy, Cryptogenic"
Secondary generalized epilepsy
"Epilepsy, Simple Partial"
"Epilepsy, Tonic"
Gonadotropin-Resistant Ovary Syndrome
"Hearing Loss, Extreme"
Experimental Hepatoma
Hereditary Sensory Radicular Neuropathy
Hurler-Scheie Syndrome
"Hyalinosis, Segmental Glomerular"
Joint laxity
Hypogammaglobulinemia
Hypokinesia
Idiopathic Membranous Glomerulonephritis
Ileal Pouches
Ileoanal Pouches
Industrial Dermatosis
J-Pouch
Keratoma
Laryngeal Paralysis
"Leiomyoma, Epithelioid"
"Leishmaniasis, New World"
Urban cutaneous leishmaniasis
Cataract
Liver Dysfunction
Marasmus
Minamata Disease
Mucopolysaccharidosis Type IIIA
MPS III B
MPS III C
MPS III D
"Mucopolysaccharidosis, MPS-IV-A"
Mucopolysaccharidosis type IVB
Myelocele
Myocardial Preinfarction Syndrome
Benign Neoplasm
"Neoplasms, Therapy-Associated"
Osteoarthrosis Deformans
Pancreatic Cholera
Panic Attacks
Cold paroxysmal hemoglobinuria
Pfaundler-Hurler Syndrome
Pilar cyst
Plantar Ulcer
Pseudopelade
Rheumatoid Purpura
Rous Sarcoma
Hemorrhagic Septicemia
Sicca Syndrome
"Ataxia, Spinocerebellar"
Juvenile-Onset Still Disease
Thrombus
Withdrawal Symptoms
"Encephalopathy, Toxic"
Acute bronchitis
Chronic sinusitis
Chronic tonsillitis
Chronic Persistent Hepatitis
Acute Cholecystitis
"Pancreatitis, Chronic"
Acute cystitis
Congenital heart block
Acute mastitis
Adnexal mass
"Neurogenic Urinary Bladder, Atonic"
Bicuspid aortic valve
Abnormality of the bladder
Lip Carcinoma
Cecum Carcinoma
Cervical lymphadenitis
Cervical myelopathy
Cholesterol Embolism
Chronic mastitis
Clubbing
Conduct Disorder
Deformity of toe
Disorder of carbohydrate metabolism
Epstein-Barr Virus Infections
Food intolerance (disorder)
Gingivostomatitis
Left Ventricular Hypertrophy
Hutchinson's Melanotic Freckle
Lower respiratory tract infection
Abnormality of the lymph nodes
neurological pain
nipple discharge
Oral lesion
Oral Ulcer
Orthostasis
"Fasciitis, Plantar"
Rectal abscess
Rectocele
Abnormal salivary gland morphology
Obstructive sialadenitis
Abscess of skin AND/OR subcutaneous tissue
Soft Tissue Infection
Somatization
Spontaneous pneumothorax
Squamous cell carcinoma of lung
Amaurosis Fugax
Sepsis due to urinary tract infection
ACUTE ALCOHOL WITHDRAWAL
Hypertrophy of adenoids
Gastric adenoma
Senile Tremor
Benign recurrent intrahepatic cholestasis
Cerebellar hemorrhage
De Quervain Disease
Deep Vein Thrombosis
Primary dysmenorrhea
Hypoglycemic encephalopathy
Epididymo-orchitis
Acute esophagitis
"Seizure, Febrile, Simple"
Slipped Capital Femoral Epiphyses
Secondary glaucoma
Primary gout
Cholestatic hepatitis
Intermittent joint effusion
Humoral hypercalcemia of malignancy (disorder)
Lichen Simplex Chronicus
Small cell carcinoma of lung
Hamartoma of lung
Migraine Disorders
Acute interstitial nephritis
Obstructive nephropathy
Sciatic Neuropathy
Ovarian Fibromata
Torsion of ovary
Annular pancreas
Complex partial seizures
Acute pelvic inflammatory disease
Adenocarcinoma of rectum
Lumbar spondylosis
"Syphilis, secondary"
TOXIGENIC E COLI
Urge Incontinence
Chronic pain
Social Communication Disorder
muscle pain or weakness
Sclerodactyly
Pitting of nails
Periorbital edema
Conduction system abnormalities
Atrial myxoma
Genital ulcers
Chronic Headache
Mononeuritis Multiplex
Cranial nerve palsies
Sensory neuropathy
Neck stiffness
Active tuberculosis
Rheumatoid factor positive (finding)
"Vasculitis, Leukocytoclastic, Cutaneous"
Primary Raynaud Phenomenon
Primary Sjögren's syndrome
Secondary Sjögren's syndrome
Abscess of breast
Renal abscess
Addisonian crisis
Thyroid Gland Follicular Adenoma
Hypochloremic alkalosis
Anti-nuclear factor positive
Megaloblastic anemia due to folate deficiency
Arterial malformation
Congenital musculoskeletal anomalies
Atrophic condition of skin
Thyroid Hypoplasia
Complete atrioventricular block
Premature Birth
Prolonged bleeding time
Stenosis of bronchus
Blood urea increased
Gastrointestinal carcinoma
Oral Cavity Carcinoma
Central nervous system depression (disorder)
Prolonged whole-blood clotting time
Cogwheel Rigidity
Hemorrhagic colitis
"Reflex, Corneal, Decreased"
Abnormality of the cerebrospinal fluid
Hemorrhagic diarrhea
Anasarca
Genital Edema
Edema of the tongue
Electroencephalogram abnormal
Hypertensive Encephalopathy
Necrolysis epidermal
ESR raised
Premature ventricular contractions
Fanconi like syndrome
Decreased fertility in females
Decreased fertility in males
Renal fibrosis
Fibrosis of mesentery
Myocardial fibrosis
Gastrointestinal perforation
Increased antibody level in blood
Neutrophilia (finding)
Growth retardation
Decreased HDL cholesterol concentration
Intracranial Hemorrhage
Pulmonary hemorrhage
Hypermagnesemia
Hypocholesterolemia
Testicular hypogonadism
Hypomagnesemia
Hepatic infarction
Intracranial Hypertension
Myocardial Ischemia
Abnormal renal function
Renal tubular disorder
Manic psychosis
Bone marrow depression
Cutaneous Melanoma
Disease of mucous membrane
Muscle Weakness
Eosinophilic myocarditis
Hepatic necrosis
Subcutaneous nodule
Coronary Occlusion
Mesenteric arterial occlusion
Opisthotonus
Bone pain
Retrosternal pain
Eye pain
Injection site pain
Periosteal Disorder
Alkaline phosphatase raised
Abnormal platelets
Pleocytosis
Polyserositis
Acquired porencephaly
Porphyruria
Disorder of pregnancy
Prothrombin time increased
Fungal infection of lung
Prolonged QT interval
Shortened QT interval
Hyporeflexia
Hyperreflexia
Retinal depigmentation
Serum iron raised
Aspartate Aminotransferase Increased
Alanine Aminotransferase Increased
Dry skin
Generalized Spasms
Hypogeusia
Disorder of tendon
Hypocalcemic tetany
Arterial thrombosis
Thrombosis of cerebral veins
Pulmonary artery thrombosis
Deep thrombophlebitis
Ulcer of esophagus
Primary ulcer of intestine
Renal vasculitis
Vulvovaginal disease
White blood cell abnormality
Adenocarcinoma of lung (disorder)
Atrophy of pancreas
Esophageal carcinoma
Gastroparesis
Congenital heart disease
Polyneuropathy
Retinal Vasculitis
Sensory Disorders
Joint swelling
Lobomycosis
Echinococcus granulosus infection
Echinococcus multilocularis infection
Ovale malaria
Taenia saginata infection
Ethiopian cutaneous leishmaniasis
Dyshormonogenic goiter
Pustular psoriasis
Jaccoud's syndrome
Crystal Arthropathies
Traumatic spondylopathy
Post-laminectomy syndrome
Osteochondropathy
Juvenile dermatitis herpetiformis
Hypermobility syndrome
Patau syndrome
Complete trisomy 18 syndrome
Disease of diaphragm
Hypoplastic Left Heart Syndrome
Hypertensive heart disease
Juvenile Spinal Muscular Atrophy
Foster-Kennedy Syndrome
Rheumatic Chorea
Lingual-Facial-Buccal Dyskinesia
Spasmodic torticollis
Drug withdrawal syndrome
Hypertensive Retinopathy
Low Tension Glaucoma
Glaucomatocyclitic crisis
Cyclical vomiting syndrome (disorder)
Renal Colic
Idiopathic pulmonary hypertension
Angina decubitus
Trigeminal Nerve Disorder
Explosive personality disorder
Refractive amblyopia
"Scotoma, Central"
Irregular astigmatism
Achromatopsia
"Strabismus, Comitant"
Alternating esotropia
Alternating Exotropia
Hypotropia
Esophoria
Exophoria
Paralytic strabismus
Lagophthalmos
Excessive tearing
Cholinergic urticaria
Congenital ankyloblepharon
Iniencephaly
Congenital genu recurvatum
Talipes valgus
Talipes Calcaneovalgus
Uterus bilocularis
"Bone Cysts, Aneurysmal"
Anterior synechiae
Posterior synechiae
Pinguecula
Disuse osteoporosis
Morgagnian cataract
Cataract secondary to ocular disorder
Familial erythrocytosis
Mixed Cellularity Hodgkin Lymphoma
"Hodgkin lymphoma, lymphocyte depletion"
Nodular Sclerosis Classical Hodgkin Lymphoma
Granulocytic Sarcoma
Pneumonia due to respiratory syncytial virus
Ankyloglossia
Congenital stenosis of aortic valve
Interrupted aortic arch
Macrotia
Congenital aphakia
Congenital small ears
Common ventricle
Craniorachischisis
Polydactyly
"Hymen, Imperforate"
Sprengel deformity
Retinoschisis
Madelung Deformity
Urethral diverticulum
Hydrorhachis
Chronic glomerulonephritis
Symblepharon
Keratomalacia
Kayser-Fleischer ring
Leukocoria
Linear atrophy
Salmonella osteomyelitis
Food poisoning caused by Vibrio parahaemolyticus
Acute amebiasis
Bacterial enteritis
Viral gastroenteritis
Primary tuberculosis
Tuberculosis of esophagus
Acute miliary tuberculosis
"Plague, Septicemic"
Streptococcal sepsis
Staphylococcal sepsis
Pneumococcal sepsis
Non-arthropod borne lymphocytic choriomeningitis
Herpes simplex meningitis
Measles with complication
"Encephalomyelitis, Eastern Equine"
Murray valley encephalitis
Mumps meningitis
"Neurosyphilis, Asymptomatic"
"Syphilis, tertiary"
Systemic candidiasis
Primary pulmonary coccidioidomycosis
Histoplasma capsulatum Infection
Toxoplasmosis chorioretinitis
Cancer of Lip
Malignant neoplasm of tongue
Malignant neoplasm of other major salivary glands
Malignant neoplasm of floor of mouth
Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of cheek mucosa
Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of mouth
Malignant neoplasm of oropharynx
malignant neoplasm of lateral wall of oropharynx
Malignant neoplasm of posterior wall of oropharynx
Malignant neoplasm of nasopharynx
Malignant neoplasm of superior wall of nasopharynx
Malignant tumor of posterior wall of nasopharynx
Malignant tumor of lateral wall of nasopharynx
Malignant tumor of anterior wall of nasopharynx
Hypopharyngeal Cancer
Malignant neoplasm of pharynx
Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of upper third of esophagus
Malignant neoplasm of middle third of esophagus
Malignant neoplasm of lower third of esophagus
Malignant neoplasm of other specified part of esophagus
Malignant neoplasm of body of stomach
Malignant tumor of lesser curve of stomach
Malignant tumor of greater curve of stomach
Malignant tumor of small intestine
Malignant neoplasm of duodenum
Malignant neoplasm of sigmoid colon
Malignant neoplasm of cecum
Malignant neoplasm of ascending colon
Malignant neoplasm of anal canal
Malignant neoplasm of anus
Malignant neoplasm of gallbladder
Malignant tumor of extrahepatic bile duct
malignant neoplasm of head of pancreas
Malignant neoplasm of body of pancreas
Malignant neoplasm of tail of pancreas
Malignant neoplasm of other specified sites of pancreas
Malignant tumor of peritoneum
Malignant neoplasm of spleen
"Malignant neoplasm of middle lobe, bronchus or lung"
"Malignant neoplasm of lower lobe, bronchus or lung"
Malignant neoplasm of other parts of bronchus or lung
Malignant neoplasm of heart
Malignant tumor of mediastinum
"Malignant neoplasm of connective and other soft tissue, site unspecified"
Malignant melanoma of skin of upper limb
Malignant melanoma of skin of lower limb
Kaposi's sarcoma of skin
Kaposi's sarcoma of palate
Uterine Cancer
Malignant Placental Neoplasm
Malignant Uterine Corpus Neoplasm
Malignant neoplasm of fallopian tube
Malignant neoplasm of testis
Malignant neoplasm of penis
Malignant neoplasm of scrotum
Malignant neoplasm of ureteric orifice
Malignant tumor of renal pelvis
Malignant neoplasm of ureter
Malignant neoplasm of brain
Malignant tumor of parathyroid gland
Malignant neoplasm of endocrine gland
Malignant neoplasm of thorax
Malignant neoplasm of abdomen
Secondary malignant neoplasm of lung
Secondary malignant neoplasm of mediastinum
Secondary malignant neoplasm of pleura
Secondary malignant neoplasm of kidney
Secondary malignant neoplasm of skin
Secondary malignant neoplasm of bone
Secondary malignant neoplasm of adrenal gland
Acute myeloid leukemia in remission
Chronic myeloid leukemia in remission
Benign neoplasm of esophagus
Benign neoplasm of stomach
Benign neoplasm of uterus
Benign neoplasm of testis
Benign neoplasm of prostate
Benign neoplasm of bladder
Benign neoplasm of thyroid gland
Benign neoplasm of adrenal gland
Hemangioma of retina
Carcinoma in situ of esophagus
Carcinoma in situ of stomach
Carcinoma in situ of anus
Stage 0 Breast Carcinoma
Carcinoma in situ of prostate
Carcinoma in situ of penis
Carcinoma in situ of bladder
Neoplastic disease of uncertain behavior
Thyrotoxicosis with toxic single thyroid nodule
Toxic multinodular goiter
Postoperative hypothyroidism
Other specified disorders of adrenal gland
Disorder of endocrine ovary
Hyperestrogenism
"Urea Cycle Disorders, Inborn"
Lipid Metabolism Disorders
Polyclonal hypergammaglobulinemia
Iron deficiency anemia secondary to chronic blood loss
Acute posthaemorrhagic anaemia
Acquired thrombocytopenia
Banti's syndrome
Other specified senile psychotic conditions
Recurrent major depressive episodes
Atypical depressive disorder
Amphetamine or related acting sympathomimetic abuse
Specific disorders of sleep of non-organic origin
Non-organic sleep disorder
Rumination Disorders
Hyperkinetic conduct disorder of childhood
Eosinophilic meningitis
Toxic Encephalitis
Degenerative brain disorder
Symptomatic torsion dystonia
Fragments of torsion dystonia
Organic writer's cramp
Anterior Horn Cell Disease
Lateral Sclerosis
"Hemiplegia, Flaccid"
"Hemiplegia, Spastic"
Diplegic Infantile Cerebral Palsy
"Cerebral Palsy, Quadriplegic, Infantile"
Monoplegic Infantile Cerebral Palsy
Migraine with Aura
Multiple cranial nerve palsy
Lumbosacral radiculopathy
Other lesions of median nerve
Ulnar Neuropathies
Lesion of Sciatic Nerve
"Hereditary and idiopathic neuropathy, unspecified"
"Myopia, Degenerative"
Serous retinal detachment
Retinal defect
Traction detachment of retina
Proliferative diabetic retinopathy
Exudative retinopathy
Retinal Microaneurysm
Retinal telangiectasia
Central retinal vein occlusion
Cystoid macular retinal degeneration
Retinal lattice degeneration
Hereditary retinal dystrophy
Vitreoretinal dystrophy
Focal chorioretinitis
Neuroretinitis
Acute posterior multifocal placoid pigment epitheliopathy
Rubeosis iridis
Pigmentary iris degeneration
Adhesions of iris
Peripheral anterior synechiae
Pupillary abnormality
Acute angle-closure glaucoma
Anatomical narrow angle glaucoma
Presenile cataract
"Cortical, lamellar, or zonular nonsenile cataract"
Sudden visual loss
"Blindness, Transient"
"Color Blindness, Red"
"Color Blindness, Red-Green"
"Color Blindness, Blue"
"Color Blindness, Acquired"
Mooren's ulcer
Corneal pannus
Corneal ghost vessels
Peripheral opacity of cornea
Bullous keratopathy
Descemet's membrane fold
Corneal degeneration
Recurrent erosion of cornea
"Corneal Dystrophy, Band-Shaped"
"Familial Amyloid Polyneuropathy, Type V"
Acute conjunctivitis
Acute follicular conjunctivitis
Chronic conjunctivitis
Recurrent pterygium
Conjunctival pigmentation
Conjunctival scar
Senile entropion
Cicatricial ectropion
Eyelid Xanthoma
Dacryoadenitis
Lacrimal mucocele
Orbital cyst
Coloboma of optic disc
Pseudopapilledema
"Optic Neuropathy, Ischemic"
"Blindness, Cortical"
Esotropia with accommodative compensation
Total ophthalmoplegia
Brown Tendon Sheath Syndrome
Scleral staphyloma
Staphyloma posticum
Vitreous degeneration
Nystagmus associated with disorder of the vestibular system
Dissociated Nystagmus
Exostosis of external ear canal
Patulous eustachian tube
Tympanosclerosis involving other combination of structures
Middle Ear Cholesteatoma
Benign Paroxysmal Positional Vertigo
Serous labyrinthitis
Cochlear otosclerosis
"Tinnitus, Subjective"
"Tinnitus, Objective"
Paracousis
Neural hearing loss
"Hearing Loss, Mixed Conductive-Sensorineural"
Rheumatic mitral regurgitation
Rheumatic aortic stenosis
Rheumatic aortic regurgitation
Hypertensive heart and renal disease
Secondary hypertension
Acute myocardial infarction
Old myocardial infarction
Pulmonary Arteriovenous Fistulas
Pulmonary artery aneurysm
Acute pericarditis
Acute myocarditis
Cardiomyopathy in other diseases classified elsewhere
Trifascicular block
Other specified conduction disorders
Nonruptured cerebral aneurysm
Atherosclerosis of aorta
Aneurysm of splenic artery
Rupture of artery
Hyperplasia of renal artery
Disease of capillaries
Portal Vein Thrombosis
Varicose veins of lower extremity
Thrombosed internal hemorrhoids
Bleeding esophageal varices
Acute maxillary sinusitis
Acute bronchitis and bronchiolitis
Chronic nasopharyngitis
Enlargement of tonsil or adenoid
Hyperplasia of adenoids
Pneumonia due to Pseudomonas
Streptococcal pneumonia
Inhalational anthrax
Pneumonia and influenza
Allergic asthma
Intrinsic asthma
Chronic obstructive asthma (with obstructive pulmonary disease)
Pulmonary Alveolar Microlithiasis
Tooth development and eruption disorder
Tooth Ankylosis
Arthralgia of temporomandibular joint
Atrophy of tongue papillae
Alcoholic gastritis
Crohn's disease of large bowel
Gastrointestinal tract vascular insufficiency
Functional diarrhea
Peritoneal adhesion
Cirrhosis and chronic liver disease
Acute glomerulonephritis
Unilateral small kidney
Calculus of kidney and ureter
Hypertrophy of kidney
Irradiation cystitis
Bladder Diverticulum
Atrophy of prostate
Atrophy of testis
Fibrosclerosis of breast
Endometriosis of ovary
Prolapse of female genital organs
Uterovaginal prolapse
Uterine Polyp
Asherman Syndrome
Polyp of vagina
Hypertrophy of clitoris
Irregular Menstruation
Postmenopausal atrophic vaginitis
"Thyroid dysfunction, postpartum"
"Anaemia, postpartum"
Carbuncle/furuncle
Abnormality of the hair
Chronic skin ulcer
Urticaria due to cold and heat
Vibratory urticaria
Arthropathy associated with infection
Infective arthritis of shoulder region
Unspecified infective arthritis involving upper arm
Unspecified infective arthritis involving forearm
Unspecified infective arthritis involving hand
"Unspecified infective arthritis, pelvic region and thigh"
Unspecified infective arthritis involving lower leg
"Unspecified infective arthritis, ankle and foot"
Pauciarticular juvenile rheumatoid arthritis
"Osteoarthrosis, localized, not specified whether primary or secondary"
Monoarthritis
Contracture of joint of hand
Cervical spondylosis with myelopathy
Intervertebral disc disorder
Intervertebral Disc Degeneration
Spinal stenosis of lumbar region
Adhesive Capsulitis
Trigger Finger Disorder
Infectious Myositis
"Fibromatosis, Plantar"
Swelling of limb
Acute osteomyelitis
Idiopathic osteoporosis
Acquired hallux valgus
Acquired cubitus valgus
Acquired genu recurvatum
Acquired clubfoot
Other congenital anomalies of nervous system
Congenital cystic eyeball
Embryonal nuclear cataract (disorder)
Congenital vitreous anomaly
Vascular anomaly
Other congenital anomalies of heart
Congenital subaortic stenosis
Congenital anomaly of coronary artery
Congenital anomaly of aortic arch
Congenital anomaly of cerebrovascular system
Cleft palate with cleft lip
"Cleft lip, unilateral, complete"
Congenital anomaly of tongue
Tongue absent
Aplasia of Lacrimal and Salivary Glands
Polycystic liver disease
Congenital malformation of genital organs
Congenital malformation of the urinary system
Bilateral congenital dislocation of hip
Congenital pectus carinatum
Hand polydactyly
Polydactyly of toes
Syndactyly of toes with fusion of bones
Radioulnar Synostosis
Macrodactylia of fingers
Macrodactyly of toe
Cervical rib
Accessory skeletal muscle
Fetal Malnutrition
Transitory tachypnea of newborn
Infections specific to perinatal period
Congenital cytomegalovirus infection
Hemolytic disease of fetus OR newborn due to RhD isoimmunization
Neonatal diabetes mellitus
Neonatal thyrotoxicosis
Neonatal hypoglycemia
Congenital anemia
Anemia of prematurity
Convulsions in the newborn
Abnormal bowel sounds
Electrooculogram abnormal
Injury of liver
Atrophic scar
Congenital stenosis of pulmonary valve
Ketonuria
Choroidal detachment
Corneal deposit
Nephrogenic Diabetes Insipidus
Edema of eyelid
Retinal ischemia
External Ophthalmoplegia
Polyarthralgia
Respiratory arrest
Joint stiffness
Adrenoleukodystrophy
Androgenetic Alopecia
Iron deficiency anemia
Polyarthritis
Contact hypersensitivity
Christ-Siemens-Touraine syndrome
Hidrotic Ectodermal Dysplasia
"Granuloma, Giant Cell Reparative"
Malnutrition
Parapsoriasis en Plaques
Poison Ivy Dermatitis
Neutrophilic Eccrine Hidradenitis
Caroli Disease
AIDS-Related Opportunistic Infections
"Colitis, Ischemic"
"Porphyria, Erythropoietic"
Hereditary Coproporphyria
Variegate Porphyria
"Porphyrias, Hepatic"
Prion Diseases
Immunoglobulin A deficiency (disorder)
IgG Deficiency disorder
"Liver Failure, Acute"
Acute intermittent porphyria
Porphyria Cutanea Tarda
Erythropoietic Protoporphyria
Hepatoerythropoietic Porphyria
Anisakiasis
"Skin Diseases, Bacterial"
"Skin Diseases, Viral"
Angelman Syndrome
Strongylida Infections
Root Caries
Mitochondrial Encephalomyopathies
Megaconial Myopathies
Pleoconial Myopathies
Mitochondrial Myopathies
MELAS Syndrome
MERRF Syndrome
Chronic progressive external ophthalmoplegia
Caliciviridae Infections
Neurofibromatoses
Leukemic Infiltration
Tick-Borne Infections
Tick-Borne Diseases
Polysomnography
HELLP Syndrome
Right Ventricular Hypertrophy
Kallmann Syndrome
"Cicatrix, Hypertrophic"
"Skin Diseases, Eczematous"
"Skin Diseases, Vascular"
"Dermatitis, Allergic Contact"
"Dermatitis, Irritant"
"Dermatitis, Photoallergic"
"Dermatitis, Phototoxic"
Hyperpigmentation
Hypopigmentation disorder
Hidradenitis Suppurativa
"Porokeratosis, Palmoplantar"
Porokeratosis
Lichenoid Eruptions
Pityriasis Lichenoides et Varioliformis Acuta
Pityriasis Lichenoides
"Aneurysm, Ruptured"
"Aortic Aneurysm, Abdominal"
"Aortic Aneurysm, Thoracic"
Citrullinemia
Dubowitz syndrome
Johanson-Blizzard syndrome
Russell-Silver syndrome
Smith-Lemli-Opitz Syndrome
Sotos' syndrome
Van der Woude syndrome
Saethre-Chotzen Syndrome
Multiple synostosis syndrome
Aarskog syndrome
Williams Syndrome
Thrombocytopenia-Absent Radius Syndrome
LEOPARD Syndrome
Asplenia Syndrome
Chronic rheumatic heart disease
Centronuclear myopathy
Aicardi's syndrome
Agenesis of corpus callosum
Congenital absent nipple
Larsen syndrome
Cold Hemagglutinin Disease
Bone Mineral Density Test
Intestinal infectious disease (disorder)
Inflammatory disease of the central nervous system
Disorder of pulmonary circulation
Hernia of abdominal cavity
Skin and subcutaneous tissue disorders
Hypoplastic anemia
Anhedonia
Fibroadenoma of breast
Cramp in foot
Oligohydramnios sequence
Autoimmune thyroid disease
Cerebral Hypoxia-Ischemia
Gammopathy
Glomerulosclerosis (disorder)
Hypertrophic osteoarthropathy
Orofacial Pain
Reactive Hyperemia
reproductive system disorder
Tumor Progression
Urinary tract obstruction
Acute onset pain
Neutrophil count (procedure)
Lymphocyte Count measurement
Monocyte count procedure
Eosinophil count procedure
Blood basophil count (lab test)
Platelet mean volume determination (procedure)
Fetal hemoglobin determination
Antibody measurement (procedure)
Thyroglobulin antibody measurement
Antiphospholipid antibodies measurement
Prostate specific antigen measurement
C-reactive protein measurement
Rheumatoid Factor Measurement
Alanine aminotransferase measurement
Alkaline phosphatase measurement
Amino acids measurement
Angiotensin converting enzyme measurement
Arylsulfatase B measurement
Aspartate aminotransferase measurement
Beta-2-microglobulin measurement
Calcium measurement
Carbohydrate measurement
Cholesterol measurement test
Chloride measurement
Cortisol Measurement
Creatine kinase measurement
"Creatinine measurement, serum (procedure)"
Dehydroepiandrosterone sulfate measurement (procedure)
Follicle stimulating hormone measurement
Fructosamine measurement
Gamma glutamyl transferase measurement
Homovanillic acid measurement
17 Hydroxyprogesterone measurement
Immunoglobulin A measurement
Insulin measurement
Insulin C-peptide measurement
Transferrin measurement
Lactic acid measurement
Low density lipoprotein cholesterol measurement
Luteinizing hormone measurement
Parathyroid hormone measurement
Phosphatidylinositol measurement
blood phenylalanine measurement by Guthrie microbiologic assay
Phospholipid measurement
Phosphorus measurement
Potassium measurement
Protein measurement
Serotonin measurement
Sex hormone binding globulin measurement
Somatomedin-C measurement
Thyroid stimulating hormone measurement
Thyroxine measurement
Triglycerides measurement
Uric acid measurement (procedure)
Vitamin B6 measurement
VITAMIN B12 MEASUREMENT
Cotinine measurement
Platinum measurement
Imaging of brain
Scab
Microinvasive tumor
"Adenocarcinoma, Basal Cell"
"Adenocarcinoma, Oxyphilic"
"Carcinoma, Cribriform"
"Carcinoma, Granular Cell"
"Adenocarcinoma, Tubular"
"Adenoma, Basal Cell"
Follicular adenoma
"Adenoma, Microcystic"
"Adenoma, Monomorphic"
Papillary adenoma
"Adenoma, Trabecular"
"Infections, Arenavirus"
Waist-Hip Ratio
"Carcinoid, Goblet Cell"
Anaplastic carcinoma
"Carcinoma, Spindle-Cell"
Undifferentiated carcinoma
Carcinomatosis
Asymmetric Septal Hypertrophy
Alpers Syndrome (disorder)
Pelizaeus-Merzbacher Disease
Roussy-Levy Syndrome (disorder)
Hereditary Opalescent Dentin (disorder)
"Diabetes, Autoimmune"
Familial Atypical Multiple Mole-Melanoma
Dysplastic Nevus
Myxofibroma
Subependymal Giant Cell Astrocytoma
Myxopapillary ependymoma
Choroid Plexus Papilloma
Histiocytoid hemangioma
"Hemangioma, Intramuscular"
"Leiomyosarcoma, Epithelioid"
"Leiomyosarcoma, Myxoid"
Hibernoma
Pleomorphic Lipoma
"Liposarcoma, Dedifferentiated"
"Liposarcoma, Pleomorphic"
Medullomyoblastoma
"Meningiomas, Multiple"
Germ cell tumor
"Neoplasms, Embryonal and Mixed"
Glandular Neoplasms
General Paralysis
"Papilloma, Squamous Cell"
Papillomatosis
"Infections, Parvovirus"
pineoblastoma
Anal Fistula
"Sarcoma, Epithelioid"
"Sarcoma, Spindle Cell"
Thymic Carcinoma
HIV Encephalopathy
Fatal Familial Insomnia
"Infections, Calicivirus"
"Pneumonia, Interstitial"
"Lung Diseases, Interstitial"
Radiation Pneumonitis
Microvascular Angina
Focal Epithelial Hyperplasia
Hyperandrogenism
Kleine-Levin Syndrome
Neuroectodermal Tumors
"Neuroectodermal Tumor, Melanotic"
Periodontal Attachment Loss
WAGR Syndrome
CREST Syndrome
"Lichen Planus, Oral"
Idiopathic Hypereosinophilic Syndrome
Eosinophilic leukemia
Loeffler's Endocarditis
Stunned Myocardium
Myocardial Stunning
"Myopathies, Nemaline"
Reticulocytosis
Reticulocyte count (procedure)
Diabetic Foot
Cytomegalovirus Retinitis
Ki-1+ Anaplastic Large Cell Lymphoma
Lymphomatoid Papulosis
"Leukoplakia, Hairy"
"Amyloid Neuropathies, Familial"
Amyloid Neuropathies
Canavan Disease
Exfoliation Syndrome
Splenosis
Tympanic Membrane Perforation
"Tuberculosis, Drug-Resistant"
"Tuberculosis, Multidrug-Resistant"
Odontodysplasia
Endolymphatic Hydrops
Circovirus Infections
Arterivirus Infections
Flavivirus Infections
Pestivirus Infections
Pneumovirus Infections
Cardiovirus Infections
Lymphatic Vessel Tumors
"Lymphangioma, Cystic"
Adenomyoma
Adenosquamous carcinoma
Hepatoblastoma
Malignant Mixed Tumor
"Mixed Tumor, Mullerian"
Mesoblastic Nephroma
Pulmonary Blastoma
Endometrial Stromal Sarcoma
Lipomatous neoplasm
Angiolipoma
Angiomyolipoma
"Liposarcoma, Myxoid"
Myelolipoma
Chondromatosis
Mesenchymal Chondrosarcoma
Giant Cell Tumor of Bone
"Neoplasms, Bone Tissue"
Ossifying Fibroma
Osteochondromatosis
Parosteal Osteosarcoma
"Neoplasms, Fibrous Tissue"
"Histiocytoma, Benign Fibrous"
Desmoplastic fibroma
"Fibromatosis, Abdominal"
Dermatofibrosarcoma
Myofibromatosis
"Neoplasms, Fibroepithelial"
Fibroadenoma
Clear Cell Sarcoma of Soft Tissue
Angiomyoma
Leiomyomatosis
Alveolar rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
Alveolar Soft Part Sarcoma
Smooth Muscle Tumor
Embryonal Carcinoma
Germinoma
Gonadoblastoma
"Neuroectodermal Tumor, Primitive"
Teratocarcinoma
"Trophoblastic Tumor, Placental Site"
Adrenal Cortical Adenoma
Hepatocellular Adenoma
Eccrine acrospiroma
Hidrocystoma
Syringoma
"Adenoma, Villous"
Adenomatoid Tumor
Adenomatous Polyps
"Mesothelioma, Cystic"
"Adenocarcinoma, Clear Cell"
Follicular thyroid carcinoma
Papillary and follicular adenocarcinoma
Sebaceous Adenocarcinoma
Acinar Cell Carcinoma
Adrenocortical carcinoma
"Carcinoma, Endometrioid"
"Carcinoma, Lobular"
Medullary carcinoma
Mucoepidermoid Carcinoma
"Carcinoma, Neuroendocrine"
"Carcinoma, Signet Ring Cell"
Cholangiocarcinoma
"Cystadenocarcinoma, Mucinous"
"Cystadenocarcinoma, Papillary"
"Cystadenocarcinoma, Serous"
Klatskin Tumor
"Carcinoma, Giant Cell"
"Carcinoma, Large Cell"
Verrucous carcinoma
Cervical Intraepithelial Neoplasia
"Cystadenoma, Serous"
Basal Cell Neoplasm
Pilomatrixoma
Mucoepidermoid Tumor
"Papilloma, Intraductal"
"Neoplasms, Neuroepithelial"
Ganglioglioma
Olfactory Neuroblastoma
Ganglioneuroblastoma
Central Neurocytoma
Squamous Cell Neoplasms
Inverted Papilloma
Sertoli-Leydig Cell Tumor
Sex Cord-Stromal Tumor
Subependymal Glioma
gliosarcoma
Nerve Sheath Tumors
Plexiform Neurofibroma
Neurofibrosarcoma
Neurothekeoma
Angiofibroma
Epithelioid hemangioendothelioma
Strawberry nevus of skin
Hemangioblastoma
"Melanoma, Amelanotic"
"Nevus, Blue"
"Nevus, Intradermal"
Epithelioid and spindle cell nevus
Calcifying Odontogenic Cyst
Rhabdoid Tumor
"T-Lymphocytopenia, Idiopathic CD4-Positive"
Coronavirus Infections
Rhabdoviridae Infections
Alphavirus Infections
Neuroendocrine Tumors
"Limb Deformities, Congenital"
Nevi and Melanomas
Adult Hodgkin Lymphoma
Childhood Brain Neoplasm
Adult Non-Hodgkin Lymphoma
Childhood Rhabdomyosarcoma
Childhood Non-Hodgkin Lymphoma
Adult Soft Tissue Sarcoma
Adult Acute Myeloblastic Leukemia
Gastrointestinal Carcinoid Tumor
Childhood Acute Myeloid Leukemia
Adult Brain Neoplasm
Adult Liver Carcinoma
Uveal melanoma
Malignant neoplasm of salivary gland
Lip and Oral Cavity Carcinoma
Childhood Hodgkin Lymphoma
Childhood Soft Tissue Sarcoma
Carcinoma of unknown primary
Renal Pelvis and Ureter Urothelial Carcinoma
Metastatic malignant neoplasm to brain
Meningeal Carcinomatosis
Malignant ascites
Pfeiffer Syndrome
Acrodysostosis
"ARTHROGRYPOSIS, DISTAL, TYPE 1"
"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)"
"BRACHYDACTYLY, TYPE D"
"ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA"
Congenital contractural arachnodactyly
Familial benign neonatal epilepsy
"Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified"
Achondrogenesis type 2
KBG syndrome
"Macrocephaly, benign familial"
"Maxillonasal dysplasia, Binder type"
Microcephaly autosomal dominant
"Neurofibromatosis, type 4, of Riccardi"
"POLYDACTYLY, POSTAXIAL"
RETINITIS PIGMENTOSA 1
SCHIZOPHRENIA 1 (disorder)
Shprintzen syndrome
VATER Association
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
"CATARACT 46, JUVENILE-ONSET"
Cerebrooculofacioskeletal Syndrome 1
"CHOANAL ATRESIA, POSTERIOR"
"CONSTRICTING BANDS, CONGENITAL"
Diastrophic dysplasia
Fryns syndrome
Childhood hypophosphatasia (disorder)
Multiple gastrointestinal atresias (disorder)
Cartilage-hair hypoplasia
Biotinidase Deficiency
"Niemann-Pick Disease, Type C"
Dizygotic twins (disorder)
Weaver-Like Syndrome
Congenital hypoplasia of adrenal gland
Craniofrontonasal dysplasia
FG syndrome
"RUSSELL-SILVER SYNDROME, X-LINKED"
Endotracheal aspiration
Congenital defects
Lightheadedness
Metabolic acidosis
Ketoacidosis
Metabolic alkalosis
Hereditary orotic aciduria
Xanthinuria
Acquired partial lipodystrophy
Rotor Syndrome
Histidinemia
Cystathioninuria
Hyperammonemia
Infantile scurvy
Hypothalamic hypothyroidism
"Hyperparathyroidism, Primary"
Mauriac's syndrome
Malignant Atrophic Papulosis
"Mastocytosis, Systemic"
Reactive systemic amyloidosis
Red blood cell disorder
Hereditary sideroblastic anemia
Sickle cell-beta-thalassemia
Microangiopathic hemolytic anemia
Cyclic neutropenia
Kasabach-Merritt syndrome
X-linked agammaglobulinemia
Immunodeficiency with thymoma
Neonatal thrombocytopenia (disorder)
Hyperviscosity syndrome
Familial generalized lipodystrophy
Trisomy X syndrome
gastrointestinal allergy
Acrodermatitis enteropathica
Liddle Syndrome
High output heart failure
Bradycardia-tachycardia syndrome
Chronic berylliosis
Welander Distal Myopathy
Paramyotonia Congenita (disorder)
Adult type dermatomyositis
Mobius Syndrome
Behr syndrome
Subacute Combined Degeneration
Anterior Spinal Artery Syndrome
"Depression, Postpartum"
Hangover from any Alcohol or Other Drugs substance
Alkalemia
Swallowing painful
Projectile vomiting
Obstipation
Paroxysmal hypertension
Systolic hypertension
Motor Disorders
Diplegia
Paraparesis
Podagra
Hemiballismus
Muscular stiffness
Chordee
Bitemporal Hemianopia
Abnormal palmar creases
Urticaria due to cold
Pelvic kidney
Congenital malrotation of intestine
Vascular ring
Common atrioventricular canal
Neck webbing
Fordyce's disease
Ectopic pancreas
Centriacinar Emphysema
Comedone
Welts
Angular cheilitis
Mesangial proliferative glomerulonephritis
Rapidly progressive glomerulonephritis
Necrolytic Migratory Erythema
Seborrheic dermatitis of scalp
Fissure in skin
Tophus
Eruptive xanthoma
Xanthoma tendinosum
Trichiasis
Dystrophia unguium
Koilonychia
Poliosis
Cafe-au-Lait Spots
Colloid goiter
Pseudolymphoma
Acanthosis
Elastosis perforans serpiginosa
Juvenile polyp
Relative erythrocytosis
Atypical lymphocyte
Anisocytosis
Poikilocytosis
Combined Hepatocellular Carcinoma and Cholangiocarcinoma
"Synovioma, benign"
Chondromyxoid fibroma
Basophilic leukemia
Hypouricemia
Acrocyanosis
Hereditary lymphedema and yellow nails
Syndactyly of fingers
Horseshoe Kidney
Frontal bossing
Macrocephaly
Brachycephaly
Brachydactyly
Long narrow head
Congenital absence of diaphragm
Bifid nose
Double ureter
Acquired Camptodactyly
Claw hand
Hydrosalpinx (disease)
Syphilitic gumma
Non-Bacterial Thrombotic Endocarditis
Melanosis coli
Atrophic Vaginitis
Pituitary cachexia
Pituitary-dependent Cushing's disease
"Anemia, hereditary spherocytic hemolytic"
Melanoderma (disorder)
Vitamin D-dependent rickets
"Blindness, Hysterical"
Recurrent depression
Effects of heat
Lesion of brain
Proximal muscle weakness
Intestinal carcinoma
Bronchial Obstruction
Pain in esophagus (finding)
Depression suicidal
alpha 1-Antitrypsin Deficiency
Brachial Plexus Neuritis
brain cyst
Chronic cystitis
Chronic psychosis
Chronic schizophrenia
Diastasis recti
Hyperamylasemia
Lumbar disc disease
Oral pain
Nontoxic goiter
Pain in wrist
Vaginal Discharge
Retinal fold (finding)
Asymptomatic
Fatigability
Early complication
Failure to gain weight
Increased body mass index
Decreased body mass index
Intolerant of heat
Jet Lag Syndrome
Premature aging syndrome
Abnormal extension
Hyperextension
Abnormal posture
Gegenhalten
Myalgia
Tenalgia
Muscle fibrillation
Osteoid formation disorder
Abnormal bone formation
Joint function disorder
Beevor's sign
Catch - Finding of sensory dimension of pain
Corkscrewing
Wrist-Drop
Ulnar deviation of the wrist
Ulnar deviation of the fingers
"Gait, Unsteady"
Spastic gait
"Gait, Shuffling"
"Gait, Athetotic"
Titubation
Cerebellar Gait Ataxia
Charcot Gait
"Gait, Festinating"
Cerebellar ataxic gait
"Gait, Hemiplegic"
"Gait, Scissors"
Circling gait
Waddling gait
Knee pain
Heel toe gait
Toeing-in
respiratory abnormalities
Dyspnea on exertion
Meningitic respiration
Airway constriction
Tachypnea
Nocturnal cough
Nose symptoms
Pulmonary function
Ventilatory defect
Apnea in the newborn
Induced apnea
Cardiac shunt
Vagal autonomic bradycardia
Reflex bradycardia
Rhythm from artificial pacing
Fibrillation
Ventricular escape rhythm
Systolic Murmurs
Mid-systolic murmur
Chest pain on exertion
Chest tightness
P pulmonale by EKG (finding)
P mitrale (finding)
No-Reflow Phenomenon
Florid red complexion (finding)
Decrease in appetite
Feeding difficulties
Increased peristalsis
Decreased peristalsis
Absent peristalsis
Abdominal discomfort
Abdominal colic
Chronic abdominal pain
Upper abdominal pain
Epigastric pain
Lower abdominal pain
Abdominal tenderness
Premature tooth loss
Hypergastrinemia
Self-induced vomiting
Retching
Nasal regurgitation
Hyperactive bowel sounds
Rectal sensation
Pale feces (finding)
Rectal tenesmus
Decreased liver function
Asterixis
Abnormal gallbladder function
Impairment of urinary concentration
Bladder pain
Functional proteinuria
Febrile proteinuria
Teratogenesis
Primary physiologic amenorrhea
Secondary physiologic amenorrhea
Intermenstrual heavy bleeding
Premenstrual symptom
Arrest of spermatogenesis
Complete spermatogenic arrest
Incomplete spermatogenic arrest
Uterine dysfunction
Cullen's sign
Fetal descent
Complete breech presentation
Frank Breech Presentation
Psychological symptom
Psychiatric symptom
Disorientation
Poor concentration
Emotional disorder
Emotional impulsivity
Labile affect
Euthymic mood
Dysphoric mood
Hyperirritability
Free-floating anxiety
Feeling despair
Abnormal behavior
Inappropriate behavior
Antisocial behavior
Falsification
Defensive aggression
Offensive aggression
Maladaptive behavior associated with physical illness
Temper tantrum
Bradykinesia
Mannerism
Foot tapping
Twirling
Eye poking
Tail-biting
Bar-biting
Catatonic Rigidity
Negativism in catatonia
Waxy flexibility
Ritual compulsion
Onychotillomania
Disorder of form of thought
Incoherent thinking
Mental condensation
Grandiose delusions
Delusion of guilt
Delusion of infidelity
Obsessions
Fear of heights
Algophobia
Cancerophobia
Speech impairment
Poverty of speech
Aprosodia
Circumlocution
Perceptual disturbance
Hysterical amnesia
Derealization
"Hallucinations, Elementary"
"Hallucinations, Auditory"
"Hallucinations, Visual"
"Hallucinations, Olfactory"
"Hallucinations, Gustatory"
"Hallucinations, Tactile"
Micropsia
Macropsia
"Hallucinations, Hypnagogic"
"Hallucinations, Somatic"
"Hallucinations, Mood Congruent"
"Hallucinations, Mood Incongruent"
Hallucinosis
Synesthesia
Memory impairment
Temporary Amnesia
Akatamathesia
Clumsiness
Personality Traits
Sexual nondevelopment
Anorgasmia
Neuromuscular inhibition
Pyramidal sign
Extrapyramidal sign
Dysgraphia
Absent reflex
Cerebellar Dysmetria
Hyperexplexia
Sucking reflex
Palmar reflex
Gowers sign
Sensory denervation disorder
Acroparesthesia
Deep pain
"Pain, Burning"
Sore to touch
Ache
Indifference to pain
Central pain
Tissue Pain
Visceral Pain
"Neuralgia, Atypical"
"Neuralgia, Stump"
"Pain, Referred"
Inflammatory pain
Mechanical pain
Rest pain
Radiating pain
Night pain
Sensitive to smells
"Taste Disorder, Primary"
"Taste Disorder, Primary, Sweet"
"Taste Disorder, Primary, Salt"
"Taste Disorder, Primary, Bitter"
"Taste Disorder, Anterior Tongue"
"Taste Disorder, Secondary"
"Taste Disorder, Secondary, Sweet"
"Taste Disorder, Secondary, Salt"
"Taste Disorder, Secondary, Bitter"
"Taste Disorder, Posterior Tongue"
Adiadochokinesis
Synkinesis
Ataxic
Trembling
Persistent Tremor
Continuous Tremor
Intermittent Tremor
Fine Tremor
Coarse Tremor
Massive Tremor
Action Tremor
Passive Tremor
Static Tremor
Resting Tremor
Darkness Tremor
Visual Cortex Disorder
Physiologic disinhibition
Disturbance of consciousness
"Syncope, Tussive"
Narcosis
Dream disorder
aphasic
"Aphasia, Ageusic"
"Aphasia, Global"
"Aphasia, Functional"
"Aphasia, Graphomotor"
"Aphasia, Intellectual"
"Aphasia, Semantic"
"Aphasia, Syntactical"
Visual Agnosia
Tactile Agnosia
Anosognosia
Finger Agnosia
Prosopagnosia
Speech dysfunction
Anarthria speech disorder
Slurred speech
"Apraxia, Ideomotor"
Ideational Apraxia
"Apraxia, Motor"
Dressing Apraxia
Generalized seizures
Clonic Seizures
Todd Paralysis
Abnormal color vision
Reduced visual acuity
Abnormal saccadic eye movement
Ocular flutter
Pain around eye
Lid lag
"Reflex, Gag, Absent"
Facial grimacing
Weak cry
Cri du chat
Dermatitis acneiform
Annular Erythema
Morbilliform rash
Acute urticaria
Muscle degeneration
Panarteritis
Astasia
Convulsive disorder
Simple Partial Seizures
Dysdiadochokinesis
Mental deterioration
"Gait, Rigid"
"Gait, Broadened"
Hypervigilance
Bulging fontanelle
Peripheral motor neuropathy
Neurologic Symptoms
Neurotoxicity Syndromes
"Paresthesia, Distal"
Skeletal muscle paralysis
Respiratory Depression
"Tremor, Perioral"
"Tremor, Limb"
"Tremor, Muscle"
Nerve Tremors
Visual field constriction
Feeling tense
Euphoric mood
Feeling Cold
"Hallucinations, Sensory"
Restless sleep
Difficulty sleeping
Mania acute
Unable to concentrate
Irrational thoughts
Diastolic hypertension
Ciliary Body Spasm
"Syncope, Effort"
Hyperemesis
Subcapsular cataract
Redness of eye
Keratopathy
Retinal damage
Ototoxicity
Dysosmia
Right upper quadrant pain
Obstruction of colon
Small bowel obstruction
Ulcer on tongue
Hypoplasia of teeth
Granulomatous hepatitis
Wasting
Potassium retention
Hyperuricemic nephropathy
Ketonemia
Ankle edema (finding)
Steroid withdrawal syndrome
Anginal attack
Wide QRS complex
Paroxysmal atrial fibrillation
Disorder of vein
"Heart Failure, Right-Sided"
Intravascular hemolysis
Hemolytic reaction
Granulocytopenia severe
Lymphadenosis
Fibrosing adenosis
Cervical lymphadenopathy
Hodgkin's-like
Qualitative platelet deficiency
Proliferative glomerulonephritis
Malignant neoplasm of female breast
Reduced fetal movement
Galactorrhea not associated with childbirth
Chest discomfort
Port-Wine Stain
Congenital hemangioma
Bladder papilloma
Gallbladder Carcinoma
Vitritis
Neonatal leukaemia
Neonatal encephalopathy
Renal Cell Dysplasia
Congenital hernia
Congenital diaphragmatic hernia
Neonatal diarrhea
Decidual endometritis
"Tremor, Neonatal"
Decreased lacrimation
Delayed delivery
Congenital hypertrichosis lanuginosa
Disease Exacerbation
Depression aggravated
Mononeuritis
Sclerosing peritonitis
Arthritis aggravated
Pulmonary Infiltrate
Impaired psychomotor development
Colagenosis
Pulmonary malformation
Abnormality of the skull
Cerebral atrophy
Zinc deficiency
Clostridium difficile diarrhea
Absence attacks
Renal dysgenesis
Disorder of ejaculation
Elevated alpha-fetoprotein
Pancreatic carcinoma
Stricture of bile duct
Normochromic anemia
Growth hormone excess
Serum iron low (finding)
Renal interstitial fibrosis
Small for gestational age (disorder)
Jaw pain
Aura
Edema of pharynx
Muscle hypertrophy
"Polyposis, Gastric"
Mucosal ulcer
Cerebellar infarction
Menopausal symptom
Disorder of male reproductive system
SLE-like symptoms
Gastrointestinal obstruction
Increased IgE level
ESTRONE MEASUREMENT
Pick Disease of the Brain
Dementia associated with alcoholism
Alcohol withdrawal syndrome
Alcohol-Related Disorders
Amphetamine withdrawal
Cocaine delirium
Cocaine-induced mood disorder
Hallucinogen Persisting Perception Disorder
Amphetamine-Related Disorders
Caffeine related disorders
Cannabis-Related Disorder
Cocaine-Related Disorders
Phencyclidine-Related Disorders
Depressed bipolar I disorder
Mixed bipolar I disorder
Bipolar II disorder
Childhood disintegrative disorder
Asperger Syndrome
Panic disorder without agoraphobia
Dissociative Amnesia
Panic disorder with agoraphobia
"Phobia, Specific"
Amphetamine Addiction
Amphetamine Abuse
Chronobiology Disorders
"Stress Disorders, Traumatic, Acute"
Selective Mutism
"Articulation Disorders, Developmental"
Age-related cognitive decline
Dementia due to Parkinson's disease
Attention Deficit and Disruptive Behavior Disorders
Substance-Related Disorders
Alcohol-Induced Disorders
Dermoid cyst of ovary
adnexal lesion
Alcohol or Other Drugs use
Dyschezia
Immunologic hypersensitivity
Acute Psychotic Episode
Peeling of skin
Physiological Sexual Disorders
emotional trauma
Gastrointestinal ulcer
pediatric AIDS
Adenocarcinoma of appendix
Invasive aspergillosis
Acute cerebellar ataxia
Autonomic Dysreflexia
Carcinoma of extrahepatic bile duct
Biliary adenoma
Ependymoma of brain
Breast Phyllodes Tumor
Carcinoma of Male Breast
Intraductal papilloma of breast
Concentric hypertrophic cardiomyopathy
Carotid-Cavernous Sinus Fistula
Adult form of celiac disease
Cerebral Angiitis
"Xanthomatosis, Cerebrotendinous"
"Chorea, Senile"
Chronic intestinal pseudo-obstruction
Secondary Biliary Cholangitis
"Colitis, Collagenous"
Chronic pulmonary heart disease
Stenosis of duodenum
"Embolism, Paradoxical"
Cytomegalovirus encephalitis
Chronic endometritis
Clostridium difficile colitis
Chronic epididymitis
Lennox-Gastaut syndrome
Radiation esophagitis
Leiomyoma of esophagus
Boerhaave syndrome
Acquired Factor XIII Deficiency
Fallopian Tube Carcinoma
Necrotizing fasciitis
Bronchopleural Fistula
Gallbladder adenoma
Gingival Carcinoma
Cardiac Sarcoma
Benign hematuria
Secondary hemochromatosis
Hemoglobin E disease
Juvenile myxedema
Inclusion Body Myositis (disorder)
Small intestine carcinoma
Leiomyoma of small intestine
Gastrointestinal Stromal Tumors
Ectopic kidney
Malrotation of kidney
Carcinoma of vocal cord
Polyp of larynx
Light chain disease
Hemangioma of liver
Metastatic Carcinoma in the Lung
Lymphangitis carcinomatosa
Lymphedema praecox
Middle Cerebral Artery Syndrome
Acute mountain sickness
Mucolipidosis Type IV
"Muscular Dystrophy, Facioscapulohumeral"
Osteomyelosclerosis
"MYOCARDITIS, ACTIVE"
Stenosis of nasolacrimal duct
Cancer of Nasopharynx
Chronic interstitial nephritis
Sickle cell nephropathy
Ischemic peripheral neuropathy
Ovarian Germ Cell Tumor
Hereditary pancreatitis
Squamous cell carcinoma of penis
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
"PITUITARY ADENOMA, NON-SECRETING"
Desquamative interstitial pneumonia
PRIMARY LACTIC ACIDOSIS
Female Pseudohermaphroditism
Male Pseudohermaphroditism
Pulmonary artery stenosis
Pulmonary lymphangiomyomatosis
Pycnodysostosis
Hematoma of rectus sheath
Renal Pelvis Squamous Cell Carcinoma
"SCLERODERMA, PULMONARY"
Fournier Gangrene
Selenium deficiency
Hemoglobin SS disease with crisis
Ependymoma of spinal cord
"Epidural Abscess, Spinal"
Subglottic stenosis
Testicular embryonal carcinoma
Teratoma of testis
Cavernous Sinus Thrombosis
Thrombosis of renal vein
Anaplastic thyroid carcinoma
Medullary carcinoma of thyroid
Papillary thyroid carcinoma
"TOXOPLASMOSIS, CHRONIC"
Transient erythroblastopenia of childhood
Transient osteoporosis of hip
Congenital posterior urethral valves
Vaginal clear cell adenocarcinoma
Squamous cell carcinoma of vagina
"VENTRICULAR SEPTAL DEFECT, LARGE"
Sarcoma of vulva
Left lower quadrant pain
Abdominal wall defect
Acrogeria
Adactyly
Aminoaciduria
Anal pain
"Anemia, severe"
ankle arthritis
Ankle clonus
Aortic root dilatation
Peripheral arthritis
Left atrial hypertrophy
Impairment of attention
severe back pain
Upper back pain
bone destruction
Bone marrow megaloblastic (finding)
brain hemangioma
Acute lower respiratory tract infection
Difficulty chewing
CHRONIC CRYPTOSPORIDIOSIS
Difficulty walking up stairs
CONJUNCTIVAL ERYTHEMA
Conjunctival telangiectasis
Lenticonus
Productive Cough
Coxa valga
Hip joint varus deformity - observation
High pitched cry
Dactylitis
Late tooth eruption
Intermittent diarrhea
Watery diarrhoea
Oedema auricular
Early satiety
Low set ears
Elbow stiff
Candidiasis of the esophagus
Extensor Rigidity
Deformity of limb
Edema of lower extremity
"EXTREMITY MUSCLE ATROPHY, LOWER"
Arm Pain
Short extremities
Erythema of the eyelids
Round face
Facial erythema
"Fasciculation, Tongue"
Fat intolerance
Low grade fever
Pain in finger
Short finger
Swelling of finger
High forehead
Gonadal hypoplasia
"Color Blindness, Green"
Green urine
Inguinal pain
Blonde hair
Red hair
White hair
Hand clenching
Hand eczema
Hand muscle atrophy
Hand muscle weakness
Hand pain
Tremor of hands
Hand-wringing
Harlequin Fetus
Head tremor
Headache recurrent
HEART DISPLACEMENT
Hematocrit increased
Microscopic hematuria
Persistence of hemoglobin F
"Fibrosis, Liver"
Hip stiff
Hypoalbuminemia
Increased IgA level
Recurrent infections
Intercostal muscle weakness
Ventricular hemorrhage
Coloboma of iris
Iron deficiency
Abnormal joint morphology
Joint tenderness
Arthritis of knee
Hyperactive patellar reflex
Knee stiff
Squamous Papilloma of the Larynx
Leukonychia
Lip swelling
Liver mass
Fractures of the long bones
Lymphatic obstruction
Masseter Muscle Spasm
Hyperplasia of midface
Hypoplasia of the maxilla
"Taste, Metallic"
Microdontia (disorder)
Micrographia
Open mouth (finding)
Muscle hematoma
Hypoplasia of muscle
Muscle tenderness
Progressive muscle weakness
Pachyonychia
Neck muscle weakness
Nipple pain
Convex nasal ridge
Bulbous nose
Pain of nose
Short upturned nose
Rotary Nystagmus
opioid use
Byzanthine arch palate
Partial thromboplastin time increased (finding)
Pelvic girdle muscle atrophy
Small penis
Pericardial constriction
Peroneal muscle weakness
Personality Change
Acquired pectus carinatum
Increased circulating renin level
Primary cerebral lymphoma
Prodrome
Prostatic Infection
Prostatic pain
Rectoperineal fistula
Fundus coloboma
Retinal exudates
Rheumatoid Vasculitis
Vertical Talus
Romberg's sign positive
Salt craving
Scalp pain
"Dysarthria, Scanning"
Winged scapula
sciatic nerve pain
"Ataxia, Sensory"
Increased serum androstenedione
Decreased serum ceruloplasmin
Creatine phosphokinase serum increased
Low serum estradiol levels
Decreased serum ferritin
Increased serum ferritin
Shoulder stiff
Cyst of skin
Hyperextensible skin
Pain of skin
Petechiae of skin
Cutaneous plaque
pustule
Thick skin
Fragile skin
Smooth muscle antibodies positive
Speech Delay
Spinal cord lesion
splenomegaly massive
Difficulty standing
Tall stature
Subcutaneous Abscess
Absence of subcutaneous fat
Small testicle
Thumb absent
Spatulate thumbs
Triphalangeal thumb
Atrophy of tongue
Tongue biting
Tongue nodules
Protrusion of tongue
Retraction of tympanic membrane
Ulnar deviation of hand
Elevated urinary catecholamines
Atrophy of vagina
Vaginal dryness
Abnormal heart valve morphology
Abnormality of the vasculature
Abnormal venous morphology
Peripheral visual field loss
Voice Fatigue
High pitched voice
Difficulty passing urine
Delayed ability to walk
Wrist swelling
"Reflex, Deep Tendon, Absent"
Organic aciduria
Congenital pulmonary arteriovenous malformation
Global brain atrophy
Cerebral salt-wasting syndrome
Cerebrovascular Insufficiency
COORDINATION DEFICIT
acute aortic dissection
Obstructive emphysema
Endometriosis of pelvis
Tick fever
"Hematuria, Benign Familial"
Autoimmune Chronic Hepatitis
Halothane Hepatitis
heroin withdrawal
X-linked hypogammaglobulinemia
Intestinal infarction
Angiomyolipoma of kidney
Bulla of lung
Honeycomb lung
Malignant melanoma of vulva
Myelofibrosis due to another disorder
"NEPHROTIC SYNDROME, CHRONIC"
Sciatic Neuritis
"Paraplegia, Ataxic"
Pulmonary congestion
Ruptured cerebral aneurysm
Thrombotic stroke
Acute urinary tract infection
Pelvic Inflammatory Disease
"Jaundice, Hemolytic"
Hypoxia
Biliary calculi
Calcium Pyrophosphate Dihydrate Deposition
Color blindness
Coronary Stenosis
Isaacs syndrome
McCune-Albright Syndrome
furuncle
BLV Infections
HTLV Infections
Dyslipidemias
Sexual Infantilism
Sheehan Syndrome
Panhypopituitarism
Erectile dysfunction
"Disk, Herniated"
Islet Cell Tumor
Malignant neoplasm of lung
Libman-Sacks Disease
Lyme Arthritis
Age related macular degeneration
Mandibulofacial Dysostosis
Myofibroblastoma
Parkinsonian Disorders
Ramsay Hunt Paralysis Syndrome
Chylopericardium
Sore Throat
Prostatism
Simple Pulmonary Eosinophilia
"Purpura, Nonthrombocytopenic"
Anus Prolapse
Acute Lung Injury
Enthesopathy
Intestinal schistosomiasis
Drug usage
Chronic thyroiditis
"Gonadal Dysgenesis, 45,X"
Azotemia
Opsoclonus
Bare Lymphocyte Syndrome
Autoimmune thrombocytopenia
Residual Cancer
"Neoplasm, Residual"
Leukocyte-Adhesion Deficiency Syndrome
Isochromosomes
Mucosa-Associated Lymphoid Tissue Lymphoma
Protein S Deficiency
"Placenta, Retained"
Persistent Vegetative State
Hypodynamia
"Ventricular Dysfunction, Left"
"Bone Demineralization, Pathologic"
Hyperoxia
Right Ventricular Dysfunction
Parasitemia
Bronchiolitis Obliterans Organizing Pneumonia
Malignant neoplasm of male breast
"Breast Neoplasms, Male"
Proliferative vitreoretinopathy
Congenital atresia of pulmonary valve
Ventricular Septal Rupture
Filoviridae Infections
Systemic Inflammatory Response Syndrome
Ventricular Dysfunction
Multiple Chemical Sensitivity
Nephropathia Epidemica
Hantavirus Infections
"Impotence, Vasculogenic"
Abdominal Abscess
Tricuspid Atresia
Viral Encephalitis
Hantavirus Pulmonary Syndrome
Sepsis
"Carcinoma, Lewis Lung"
Cardiovascular Abnormalities
Stomatognathic System Abnormalities
Atresia
Autosomal recessive SCID
dysproteinemia
Autonomic neuropathy
Epithelial inclusion cyst
Steatocystoma multiplex
Fibrous Dysplasia
Compound nevus of skin
Telangiectatic osteosarcoma
mixed gliomas
Malignant Meningioma
Rhabdoid meningioma
Punctate keratitis
Drop Attack
Xerosis
psychiatric emergencies
Multiple tumors
Hearing problem
Growth abnormality
Stricture of anus
anxiety generalized
Asymptomatic bacteriuria
Atypical chest pain
Autonomic nervous system imbalance
Borderline hypertension
Carcinoma of ampulla of Vater
Cerebellar degeneration
Cerebral dysfunction
cervical abnormality
Acute on chronic pancreatitis
Chronic urinary tract infection
CNS DEGENERATION
Collagen-vascular disease
Compression fracture of vertebral column
"Cardiac valvular dysplasia, X-linked"
Abnormality of the dentition
Embolic stroke
Congenital abnormality of Eustachian tube
Eye problem
Wrinkled face
Polyp of gallbladder
Global Amnesia
herpetic neuralgia
Incomplete right bundle branch block
White Coat Hypertension
maternal hypothyroidism
Anteroseptal Myocardial Infarction
Subendocardial myocardial infarction
Nerve paralysis
"Carcinoma, Small Cell"
ONYCHOPATHY
Osteopenia/osteoporosis
Parathyroid Adenoma
Pelvic adhesions
Abnormality of the sacroiliac joint
Reduced concentration span
Abnormality of the thymus
Recurrent urinary tract infection
Vagina Carcinoma
VASCULAR EMBOLISM
Abnormal vocal cord morphology
Extraocular Muscle Paresis
Myxoma of the Endocardium
extragonadal germ cell tumor
Acute dermatitis
Subacute dermatitis
Chronic dermatitis
Achromia of skin
Superficial perivascular dermatitis
Interface dermatitis
Spongiotic dermatitis
Psoriasiform eczema
Vasculitis of the skin
Perifolliculitis
Sclerosis of the skin
Cellulitis of abdominal wall
Pyogenic granuloma of skin
Acute eczema
Chronic eczema
Flexural atopic dermatitis
Pemphigus Foliaceus
Pemphigus and fogo selvagem
Pemphigus vegetans
Grover's disease
Contact urticaria
Chronic urticaria
Urticaria medicamentosa
Prurigo nodularis
Psoriasis vulgaris
Köbner phenomenon
Small plaque parapsoriasis
Gianotti-Crosti Syndrome
Lichen striatus
Keratosis pilaris
Confluent and Reticulate Papillomatosis
Cutis marmorata
Telangiectasia macularis eruptiva perstans
Linear Scleroderma
Cutis verticis gyrata
Reactive perforating collagenosis
Hyperkeratosis lenticularis perstans
Acrodermatitis atrophicans chronica
Burnett Schwartz Berberian syndrome
Atrophoderma vermiculatum
Acne Conglobata
Acne fulminans
Perioral Dermatitis
Chloracne
Bromhidrosis
Female pattern alopecia (disorder)
Ophiasis
Clastothrix
Pili annulati
Brittle hair
Pili Torti
Premature canities
Alopecia totalis
Alopecia universalis
Perifolliculitis capitis abscedens
Micronychia (disorder)
Longitudinal split nail
Hypertrophy of nail
Onychogryposis
Clubbing of nail
Nail Loss
Pyramidal disease
Chronic ulcer of lower extremity
Riehl's melanosis
Pigmented hairy epidermal nevus
Ichthyosis hystrix
Idiopathic guttate hypomelanosis
Early radiation dermatitis
Solar urticaria
Subcutaneous calcification
Calcinosis universalis
Tumoral calcinosis
"Hypertrophic disorder of skin, unspecified"
Abnormal granulation tissue
Epithelial hyperplasia of skin
Disorder of skeletal system
Disseminated eosinophilic collagen disease
Generalized morphea
"Dermatomyositis, Childhood Type"
Chronic arthropathy
Acute arthritis
Chronic arthritis
Hemophilic arthropathy
Osteoarthritis of the hand
Coxitis
Chronic osteoarthritis
Interphalangeal osteoarthritis
"Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome"
Narrowing of intervertebral disc space
Degeneration of lumbar intervertebral disc
Back disorder
Rotator cuff syndrome
Iliac crest spur
Achilles tendinitis
Proliferative synovitis
Olecranon bursitis
Disorder of soft tissue
Massive calcification in paraplegic
Polymyositis Ossificans
Exertional rhabdomyolysis (disorder)
Knuckle pads
Eosinophilic Fasciitis
Osteodystrophy
Hepatic osteodystrophy
Brodie's abscess
Juvenile osteoporosis
Osteoarthropathy of fingers familial
Craniomandibular osteopathy
Calcaneal apophysitis
"Atrophy, Disuse"
Acquired flat foot
Hallux Rigidus
Spade-like hand
Camptocormia
Saddle nose
Barrel chest
Degenerative spondylolisthesis
Pelvic obliquity
Acute respiratory disease
Chronic disease of respiratory system
Acute upper respiratory infection
Hypertrophic rhinitis
Purulent rhinitis
Laryngomalacia
Laryngeal Obstruction
Calcification of trachea
Smokers' cough
Bronchomalacia
Childhood bronchiectasis
Organized pneumonia
Panacinar Emphysema
Paraseptal emphysema
Gas bubble disease
Childhood asthma
Hay fever with asthma
Late onset asthma
Occupational lung disease
"Asthma, Occupational"
Mixed dust pneumoconiosis
Sequoiosis
Bakers' asthma
Chronic nonspecific lung disease
Acute respiratory failure
Acute-on-chronic respiratory failure
Chronic respiratory failure
Lymphoid interstitial pneumonia
"Pneumonia, Necrotizing"
Adhesion of pleura
Adhesion of lung
Thickening of pleura
Pleural effusion associated with pulmonary infection
Pleurisy with effusion
Tension Pneumothorax
Apraxia of Phonation
Psychogenic voice disorder
Low-renin essential hypertension
High-renin essential hypertension
Endocrine hypertension
Hypertensive heart failure
Renal sclerosis with hypertension
Coronary artery atheroma
Coronary arteritis
Left main coronary artery thrombosis
Acute coronary insufficiency
Chronic myocardial ischemia
Subendocardial ischemia
Acute Inferior Myocardial Infarction
Acute heart failure
Chronic heart failure
Acute congestive heart failure
Chronic congestive heart failure
Acute left-sided heart failure
Cardiac dilatation
Ventricular dilatation (disorder)
Atrial dilatation
Rheumatic disease of heart valve
Rheumatic disease of mitral valve
Rheumatic mitral stenosis
Mitral and aortic incompetence
Nonobstructive cardiomyopathy
Familial cardiomyopathy
Dilated cardiomyopathy secondary to viral myocarditis
Dilated cardiomyopathy secondary to metabolic disorder
Giant cell myocarditis
Heart valve stenosis
Conduction disorder of the heart
Nodal rhythm disorder
Second degree atrioventricular block
Left anterior fascicular block
Left posterior fascicular block
Secondary pulmonary hypertension
Systemic Vasculitis
Burn shock
Arteriovascular degeneration
Idiopathic arterial calcification of infancy
Atheroma
Aneurysm of femoral artery
Aneurysm of popliteal artery
Periarteritis
Occlusion of artery (disorder)
Ulcer of artery
Dilatation of aorta
Aortocaval fistula
Ruptured thoracic aortic aneurysm
Ruptured abdominal aortic aneurysm
Capillary hyperpermeability
Capillary thrombosis
Portal vein obstruction
Basilar Artery Stenosis
Basilar artery occlusion
Basilar artery thrombosis
Carotid artery occlusion
Cerebral Vasospasm
Progressing stroke
Chronic cerebral ischemia
Disorder of pericardium
Chronic acquired lymphedema
De Sanctis-Cacchione syndrome
Seckel syndrome
Robinow Syndrome
Weaver syndrome
Marshall-Smith syndrome
Distal arthrogryposis syndrome
Meckel-Gruber syndrome
X-linked hydrocephalus syndrome
Neu-Laxova syndrome
Miller Dieker syndrome
Pallister-Hall syndrome
Walker-Warburg congenital muscular dystrophy
Royer Syndrome
Cohen syndrome
Freeman-Sheldon syndrome
Hecht syndrome (disorder)
Schinzel-Giedion syndrome
Cryptophthalmos syndrome
Branchio-Oto-Renal Syndrome
Marshall syndrome
Wildervanck's syndrome
Goldenhar Syndrome
Franceschetti-Klein syndrome
Otocephaly
Nager syndrome
Townes syndrome
Ruvalcaba Syndrome
Oto-Palato-digital syndrome type 1
Coffin-Lowry syndrome
Stickler syndrome (disorder)
Trichorhinophalangeal syndrome
Genee-Wiedemann syndrome
Popliteal pterygium syndrome
"Chondrodysplasia, Grebe type"
Multiple pterygium syndrome
Femoral hypoplasia - unusual facies syndrome
Holt-Oram syndrome
Aase syndrome
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Adams Oliver syndrome
Lacrimoauriculodentodigital syndrome
Achondrogenesis type 1A
"Achondrogenesis, type IB (disorder)"
Jeune thoracic dystrophy
Kniest dysplasia
"Spondylometaphyseal dysplasia, Kozlowski type"
Metatropic dwarfism
Fibrochondrogenesis
"Atelosteogenesis, type 1"
Dyggve-Melchior-Clausen syndrome
Acromicric Dysplasia
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia
Kenny-Caffey syndrome
Schwartz-Lelek syndrome
Frontometaphyseal dysplasia
Pyle metaphyseal dysplasia
Jansen type metaphyseal chondrodysplasia
Sclerosteosis
Greig cephalopolysyndactyly syndrome
Baller-Gerold syndrome
Leri-Weill dyschondrosteosis
Brachydactyly syndrome type E
Weill-Marchesani syndrome
Neurocutaneous Syndromes
Fibrous skin tumor of tuberous sclerosis
Peutz-Jeghers polyps of small bowel
Turcot syndrome (disorder)
Bannayan-Riley-Ruvalcaba Syndrome
Organoid Nevus Phakomatosis
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Tricho-dento-osseous syndrome (disorder)
Pachyonychia Congenita
Senter syndrome
Coffin-Siris syndrome
Borjeson-Forssman-Lehmann syndrome
Rieger syndrome
Cerebrocostomandibular Syndrome
Jarcho-Levin syndrome
Donohue Syndrome
Lymphedema distichiasis syndrome
CHARGE Syndrome
Polysplenia Syndrome
Urethral obstruction sequence
Fetal hydantoin syndrome
Warfarin syndrome
4q partial monosomy syndrome
9p partial monosomy syndrome
"Chromosome 9, partial trisomy 9p"
Pallister-Killian syndrome
Ring Chromosome 20 Syndrome
Trisomy 22
Cat eye syndrome
Tetrasomy X
Congenital anomaly of skeletal bone
Bone island
Osteopathia striata
Dermatofibrosis lenticularis disseminata
Plagiocephaly
Scaphycephaly
Trigonocephaly
Cranioschisis
Dimelia
Congenital macrodactylia
Polysyndactyly
Ectrodactyly
Acheiropodia
Congenital dislocation of radial head
Phocomelia of upper limb
Longitudinal deficiency of radius
Brachymetacarpia
Congenital absence of hand
Mirror hands
Congenital anomaly of finger
Accessory carpal bones
Clinodactyly of fingers
Congenital absence of tibia
Talipes Equinovalgus
Talipes Calcaneovarus
Tarsal Coalition
Congenital hallux valgus
Syndactyly of the toes
Congenital dislocation of knee
Congenital kyphosis
Congenital hemivertebra
Supernumerary vertebra
Congenital fusion of ribs
Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Bochdalek
Congenital eventration of diaphragm
Gastroschisis
Mesatipellic pelvis
Congenital anomaly of nose
Arrhinia
Congenital atresia of nasopharynx
Congenital atresia of larynx
Congenital atresia of trachea
Congenital absence of lung
Congenital hypoplasia of lung
Congenital emphysema
Acyanotic congenital heart disease
Cyanotic congenital heart disease
Double outlet left ventricle
Congenital absence of pulmonic valve
Congenital insufficiency of pulmonary valve
Congenital hypoplasia of tricuspid valve
Congenital atresia of aortic valve
Hypoplasia of right heart
Uhl anomaly
Mesocardia
Preductal coarctation of aorta
Congenital hypoplasia of aortic arch
Kommerell's diverticulum
Overriding aorta
Hypoplasia of aorta
Single coronary artery
Agenesis of pulmonary artery
Congenital atresia of pulmonary artery
Congenital hypoplasia of pulmonary artery
Congenital stenosis of pulmonary artery
Anomalous pulmonary vein
Persistent left superior vena cava
Venous malformation
Erythrokeratodermia variabilis
Ichthyosis linearis circumflexa
Mutilating keratoderma
Dyskeratosis Congenita
"Porokeratosis, Disseminated Superficial Actinic"
Acrokeratosis Verruciformis of Hopf
Birthmark
Collagen nevus of skin
Fibrous Hamartoma of Infancy
Mongolian Spot
Nevus comedonicus
Congenital accessory skin tag
alopecia congenita
ANONYCHIA
Subungual fibroma
"Knuckle pads, leuconychia and sensorineural deafness"
Pili torti-deafness syndrome
Congenital absence of breast
Accessory nipple
Congenital hypoplasia of breast
Congenital digestive system anomalies
Moon's molar teeth
Ectopic tooth
Supernumerary mesiodens tooth
Macrodontia
Peg-shaped teeth
Taurodontism
Failure of exfoliation of primary tooth
Precocious exfoliation of primary tooth
Premature tooth eruption
Posterior crossbite
Anterior open bite
Open Bite
Posterior open bite
Mandibular retrognathism
Congenital lip pits
Congenital macrocheilia
Bifid tongue
Congenital absence of uvula
Cleft uvula
Ectopic gastric tissue
Pyloric Atresia
Congenital duplication of intestine
Duodenal atresia
Jejunal Atresia
Congenital atresia of ileum
Megaduodenum
Congenital duodenal obstruction due to malrotation of intestine
Congenital atresia of colon
Malrotation of colon
Microcolon
Congenital anomaly of rectum
Anorectal atresia
Persistent cloaca
Ectopic anus
Congenital anomaly of bile ducts
Congenital hypoplasia of bile duct
Gallbladder anomaly congenital
"Gallbladder, Agenesis Of"
Congenital absence of liver
Accessory hepatic duct
Congenital absence of pancreas
Congenital hypoplasia of pancreas
Pancreas divisum
Congenital absence of adrenal gland
Ectopic adrenal gland
Ectopic thyroid tissue (disorder)
Lingual Thyroid
Congenital anomaly of the kidney
Unilateral agenesis of kidney
Congenital hypoplasia of kidney
Accessory kidney
Double kidney (disorder)
Fused Kidney
congenital lobulation of kidney
Allanson Pantzar McLeod syndrome
Congenital hydronephrosis
Megacalycosis
Impervious ureter
Congenital dilatation of ureter
Congenital anomaly of the bladder
Congenital absence of bladder
Congenital obstruction of bladder neck
Congenital urethral valve
Persistent umbilical sinus
Streak gonad
True Hermaphroditism (disorder)
Ambiguous Genitalia
Congenital absence of ovary
Streak ovary
Uterine Anomalies
Congenital absence of uterus
Bicornuate uterus
Congenital duplication of uterus
Infantile uterus
Septate vagina
Testicular regression syndrome
Monorchism
Polyorchism
Leydig cell agenesis
Congenital hypoplasia of penis
Congenital absence of vas deferens
Congenital atresia of vas deferens
Congenital anomaly of brain
Exencephaly
Meningoencephalocele
Congenital absence of part of brain
Congenital hypoplasia of part of brain
Lissencephaly
Polymicrogyria
Congenital pontocerebellar hypoplasia
Cerebellar Hypoplasia
Congenital stenosis of aqueduct of Sylvius
Pachygyria
Schizencephaly
Etat Marbre
Neuronal heterotopia
Spina bifida of cervical region
Myeloschisis
Rachischisis
Marcus Gunn phenomenon
Irido-corneal dysgenesis
Norrie disease
Congenital lamellar cataract
Congenital total cataract
Microphakia
Spherophakia
Microcornea
Axenfeld anomaly (disorder)
Congenital coloboma of iris
Persistent primary vitreous
Congenital anomaly of retina
Optic disc structural anomaly
Persistent Hyperplastic Primary Vitreous
Congenital retinal aneurysm
Congenital anomaly of eyelid
Congenital ptosis
Ablepharon
Congenital ear anomaly NOS (disorder)
Congenital aplasia of inner ear
Preauricular dimple
Bat ear
Congenital anomaly of face
Potter's facies
Congenital anomaly of neck
Accessory spleen
Ectopic spleen
Situs ambiguus
Congenital anomalies of fetus
Abnormal fetus
Cyclocephaly
Synotus
Craniopagus
Asymmetrical conjoined twins
Twin placenta
Chorioallantoic placenta
Abnormal amniotic fluid
Abnormal yolk sac
Abnormal umbilical cord
Short cord
Velamentous insertion of umbilical cord (disorder)
Compression of umbilical cord
Acute gastrointestinal hemorrhage
Cow milk allergy
"Visceral Myopathy, Familial"
Infantile Colic
Enamel caries
External resorption of tooth
Subgingival dental calculus
Hyperplastic gingivitis
Rapidly progressive periodontitis
Chronic Periodontitis
Derangement of temporomandibular joint
Torus palatinus
Resorption of mandible
Vesicular Stomatitis
Erythroplakia of mouth
Hypertrophy of lip
Actinic cheilitis
Glossoptosis
Erosive esophagitis
Chalasia of lower esophageal sphincter
Oropharyngeal Dysphagia
Esophageal Dysphagia
Peptic ulcer of esophagus
Leukoplakia of esophagus
Gastric dysplasia
Eosinophilic gastritis
Reflux gastritis
Superficial gastritis
Gastroduodenitis
Gastroparesis with diabetes mellitus
Intestinal metaplasia of gastric mucosa
Gastric Antral Vascular Ectasia
Duodenal perforation
Duodenal fistula
Angiodysplasia of colon
Primary intestinal lymphangiectasia
Intestinal hemorrhage NOS
Chronic colitis
Crohn's disease of the ileum
Ischemic enteritis
Acute ischemic colitis
Mesenteric infarction
Mesenteric Venous Thrombosis
Allergic enteritis
Noninfectious colitis
Allergic diarrhea
Acute gastroenteritis
Eosinophilic colitis
Necrotic enteritis
Villous atrophy of intestine
Stenosis of intestine
Intussusception of rectum
Volvulus of colon
Ulceration of colon
Chilaiditi Syndrome
Chronic idiopathic constipation
Diversion colitis
Typhlitis
Typhlocolitis
Ileocolic intussusception
Osmotic diarrhea
Secretory diarrhea
Perianal fistula
Rectal Stenosis
Descending perineum syndrome
Childhood celiac disease
Congenital chloride diarrhea
"Congenital secretory diarrhea, sodium type (disorder)"
Bilateral inguinal hernia
Incisional hernia
Paraesophageal hernia
Acute peritonitis
Abscess of peritoneum
Retractile Mesenteritis
Retroperitoneal mass
Adhesion of intestine
Leiomyomatosis peritonealis disseminata
Hepatobiliary disease
Subacute hepatic necrosis
Acute hepatitis
Lupus hepatitis
"Cirrhosis, Cryptogenic"
Micronodular cirrhosis
Bile duct proliferation
Acute toxic hepatitis
"Liver Abscess, Pyogenic"
Liver cyst
Hepatic amyloidosis
Acalculous Cholecystitis
Acute cholecystitis without calculus
Mirizzi Syndrome
Mucocele of gallbladder
Acute cholangitis
Chronic cholangitis
Primary cholangitis
Suppurative cholangitis
Bile Duct Stenosis
Postoperative biliary stricture
Acute recurrent pancreatitis
"Pancreatitis, Acute Necrotizing"
Fibrosis of pancreas
Necrosis of pancreas
Exocrine pancreatic insufficiency
Pancreatic acinar atrophy
Storage disease
Hyperproteinemia
Adult-onset obesity
Hyposmolality syndrome
Hyperosmolality
Chronic hypokalemia
"Hyperkalemia, diminished renal excretion"
Compensated acidosis
Ketoacidosis due to acute alcohol intoxication
Neonatal hemochromatosis
Juvenile hemochromatosis
Hepatic hemosiderosis
Hypocupremia
Hypercupremia
Indian childhood cirrhosis
Hypophosphaturia
Hyperphosphaturia
"Hypercalcemia, Idiopathic, of Infancy"
Manganese deficiency
Keshan disease
Disorder of purine metabolism
Chronic gouty arthritis
Chronic tophaceous gout
Familial juvenile gout
"Gout, HPRT-Related"
"Xanthinuria, Type I"
Combined molybdoflavoprotein enzyme deficiency
Adenine phosphoribosyltransferase deficiency
"APRT deficiency, Japanese type"
Muscle AMP deaminase deficiency
Adenosine deaminase deficiency
Purine-nucleoside phosphorylase deficiency
Adenylosuccinate lyase deficiency (disorder)
Orotic aciduria
"Hereditary orotic aciduria, type 1"
DNA Repair-Deficiency
"Xeroderma pigmentosum, group A"
"Xeroderma pigmentosum, group B"
"Xeroderma Pigmentosum, Complementation Group D"
"Xeroderma pigmentosum, group F"
"Xeroderma pigmentosum, group G"
Glucose-6-phosphate transport defect
"Glycogen storage disease, type IX"
Glycogen storage disease type X
Classical galactosemia
"Classical galactosemia, homozygous Duarte-type"
Deficiency of galactokinase
Galactosuria
Deficiency of fructokinase
Pentosuria
"Primary hyperoxaluria, type I"
Primary hyperoxaluria type 2
"Lactase Deficiency, Congenital"
"Lactose Intolerance, Adult Type"
Congenital glucose-galactose malabsorption
"alpha, alpha-Trehalase deficiency"
NADH cytochrome B5 reductase deficiency
Phosphoenolpyruvate carboxykinase deficiency
Familial lipoprotein deficiency
Familial apolipoprotein C-II deficiency
"Maroteaux-Lamy syndrome, mild form"
Fucosidosis Type I
Fucosidosis Type II
Aspartylglucosaminuria
Type I Mucolipidosis
Neuraminidase 1 deficiency
GALACTOSIALIDOSIS
Cytochrome-c Oxidase Deficiency
Triglyceride storage disease with ichthyosis
Pancreatic triacylglycerol lipase deficiency
"Niemann-Pick Disease, Type A"
"Niemann-Pick Disease, Type B"
"Niemann-Pick Disease, Type D"
"Niemann-Pick Disease, Type E"
"Gaucher Disease, Type 2 (disorder)"
"Gaucher Disease, Type 3 (disorder)"
Late-Onset Globoid Cell Leukodystrophy
Farber Lipogranulomatosis
Metachromatic Leukodystrophy due to Saposin B Deficiency
Multiple Sulfatase Deficiency Disease
"Gangliosidosis, Generalized GM1, Type 1 (disorder)"
"Gangliosidosis, Generalized GM1, Type 2"
"Gangliosidosis, Generalized GM1, Type 3"
"Gangliosidoses, GM2"
"Tay-Sachs Disease, AB Variant"
Juvenile GM 2 gangliosidosis
Infantile GM 2 gangliosidosis
Lipofuscinosis
Infantile neuronal ceroid lipofuscinosis
"Adrenal hyperplasia, congenital, type 5"
Deficiency of steroid 21-monooxygenase
Mild steroid 21-hydroxylase deficiency
Severe steroid 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Corticosterone Methyl Oxidase Type I Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency
Pseudovaginal Perineoscrotal Hypospadias
Reifenstein Syndrome
Unconjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
Inherited disorder of bilirubin metabolism
Progressive intrahepatic cholestasis (disorder)
"Cholestasis-edema syndrome, Norwegian type"
Cholestasis of pregnancy
Familial porphyria cutanea tarda
Porphobilinogen synthase deficiency
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
"Ehlers-Danlos syndrome, type 3 (disorder)"
"Ehlers-Danlos Syndrome, Type IV"
Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome 6B
"EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE"
"Ehlers-Danlos Syndrome, Type VIII"
"Cutis Laxa, Autosomal Dominant"
"Cutis Laxa, Autosomal Recessive, Type I"
"Cutis laxa, x-linked"
De Barsy syndrome
"Cutis Laxa, Autosomal Recessive, Type IIA"
Osteogenesis imperfecta with blue sclerae AND normal teeth
"Osteogenesis imperfecta, type 1A"
"Osteogenesis imperfecta, dominant perinatal lethal"
"Osteogenesis imperfecta, recessive perinatal lethal"
Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type IV (disorder)
Marfanoid hypermobility syndrome
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome
Adult junctional epidermolysis bullosa (disorder)
Autosomal dominant epidermolysis bullosa simplex
Pseudocholinesterase deficiency
Systemic amyloidosis
Primary amyloidosis
Amyloid nephropathy
"Familial amyloid polyneuropathy, type VI"
"Familial Amyloid Neuropathy, Portuguese Type"
"Familial Amyloid Polyneuropathy, Jewish Type"
"Amyloid Polyneuropathy, Swiss Type"
"Amyloidosis, familial visceral"
Muckle-Wells Syndrome
Localized amyloidosis
Familial Cerebral Amyloid Angiopathy
Isolated atrial amyloid
"Amyloidosis, Primary Cutaneous"
Familial lichen amyloidosis
Hemodialysis-associated amyloidosis
Age-related amyloidosis
Senile cardiac amyloidosis
Acid Phosphatase Deficiency
Infantile hypophosphatasia
Adult hypophosphatasia (disorder)
Hyperphosphatasemia with bone disease
Enterokinase Deficiency
Pancreatic trypsinogen deficiency
Deficiency of glycerol kinase
Acatalasia
Alstrom Syndrome
Hyperkalemic distal renal tubular acidosis
"Renal Tubular Acidosis, Type II"
"Pseudohypoaldosteronism, Type I"
Acquired Nephrogenic Diabetes Insipidus
Normokalemic Periodic Paralysis
Thyrotoxic periodic paralysis
Primary hypomagnesemia (disorder)
Gitelman Syndrome
Manz syndrome
Aminoacidemia
Disorder of phenylalanine metabolism
Transient hyperphenylalaninemia
Phenylketonuria II
"Hyperphenylalaninemia, BH4-Deficient, B"
"Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency"
Hydroxykynureninuria
Tyrosinemias
Hereditary hypertyrosinemia
Tyrosine Transaminase Deficiency Disease
"Tyrosinemia, Type I"
Ochronotic arthritis
Oculocutaneous albinism type 1
Oculocutaneous albinism type 2
Brown oculocutaneous albinism
Autosomal dominant oculocutaneous albinism
Yellow mutant oculocutaneous albinism
BADS Syndrome
Autosomal recessive ocular albinism
"Ocular albinism, type II"
Urocanase deficiency
Glutamate-cysteine ligase deficiency
gamma-Glutamyltransferase deficiency
5-oxoprolinase deficiency
Hyperprolinemia
Proline dehydrogenase deficiency
Hydroxyprolinemia
Deficiency of prolidase
Prolinuria
HHH syndrome
Ornithine carbamoyltransferase deficiency
"Hyperammonemia, type III"
Argininosuccinic Aciduria
Hyperargininemia
Hyperlysinemias
"Hyperlysinemia, Periodic"
Saccharopinuria
Hyperglycinemia
"Hyperglycinemia, Transient Neonatal"
"Hyperglycinemia, Nonketotic, Type I"
"Hyperglycinemia, Nonketotic, Type II"
Sarcosinemia
Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Valinemia
Hyperleucine-Isoleucinemia
Isovaleryl-CoA dehydrogenase deficiency
Hyperleucinemia
Propionic acidemia
Holocarboxylase Synthetase Deficiency
Methylmalonic acidemia
Glutaric aciduria
"Glutaric aciduria, type 1"
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency
HMG CoA lyase deficiency
Acetyl-CoA: carboxylase deficiency
Inherited disorder of folate metabolism
Deficiency of dihydrofolate reductase
Glutamate formiminotransferase deficiency
Arakawa syndrome 2
Disorder of sulfur-bearing amino acid metabolism
"5,10-Methylenetetrahydrofolate reductase deficiency"
Gamma-cystathionase deficiency
Cystathioninemia
Hepatic methionine adenosyltransferase deficiency
"Tyrosinemia, Type III"
Sulfite oxidase deficiency
Juvenile nephropathic cystinosis (disorder)
Hyper-beta-alaninemia
succinic semialdehyde dehydrogenase deficiency
Homocarnosinosis
Disorder of fatty acid metabolism
Amino acid transport disorder
Histidinuria renal tubular defect
Cystinuria type 1
"Cystinuria, type 3"
Isolated cystinuria
Lysinuric Protein Intolerance
Iminoglycinuria
Biotin deficiency
Nutritional steatitis
"Vitamin D-dependent rickets, type 1"
Uremic encephalopathy
Renal tubular defect
Renal glomerular disease
Nephritic syndrome
Acute nephropathy
"Membranoproliferative Glomerulonephritis, Type I"
"Membranoproliferative Glomerulonephritis, Type II"
Diffuse mesangial sclerosis (disorder)
Fibrillary glomerulonephritis
Necrotizing glomerulonephritis
"SLE glomerulonephritis syndrome, WHO class IV"
Myeloma kidney
Salt-losing nephropathy
Renal vascular disorder
Arteriolar nephrosclerosis
Acquired renal cystic disease
Simple renal cyst
Hydroureteronephrosis
Dipsogenic Diabetes Insipidus
Lower urinary tract infectious disease
Hunner's ulcer
Cystitis glandularis
Overactive Detrusor
Hypertrophy of bladder
Urethrorectal fistula
Prostatic Obstruction
Atrophy of seminal vesicle
Atrophy of vas deferens
Acute orchitis
Increased size of penis
Fibrosis of corpus cavernosum
Chronic cervicitis
Vulvar Vestibulitis
Endometrioma
Endosalpingiosis
Urethrovaginal fistula
Germinal inclusion cyst of ovary
Squamous metaplasia of cervix
Cervical atypism
Stenosis of cervix
Hydrometrocolpos
Periductal mastitis
Inversion of nipple (disorder)
Cervical pregnancy
Antepartum hemorrhage
Vasa Previa
Hematoma of cord
Postpartum cardiomyopathy
Galactorrhea associated with childbirth
Antepartum hemorrhage affecting fetus or newborn
Perinatal disorder
Perinatal respiratory distress
Perinatal respiratory failure
TORCH syndrome
Perinatal Subarachnoid Hemorrhage
Hemolytic disease of fetus OR newborn due to ABO immunization
Lucey-Driscoll syndrome (disorder)
Perinatal jaundice due to inspissated bile syndrome
Syndrome of infant of diabetic mother
"Tetany, Neonatal"
Meconium peritonitis
Hydrops of placenta
Bedwetting
Mild mood disorder
Severe major depression with psychotic features
"Schizoaffective disorder, bipolar type"
Coprophilia (disorder)
Rebound Insomnia
Generalized Anxiety Disorder
Generalized social phobia
Leukoencephalopathy
"Myelitis, Acute Transverse"
Epidural Abscess
Lateral Sinus Thrombosis
Brain stem herniation
Posterior fossa compression syndrome
Cerebral calcification
Fungal infection of brain
Pseudomeningocele
Post-Lumbar Puncture Headache
Neonatal maladjustment syndrome
Kluver-Bucy Syndrome
Rud Syndrome
Bing-Neel syndrome
Late cortical cerebellar atrophy
"Degenerative Diseases, Central Nervous System"
Arrested hydrocephalus
Hydrocephalus Ex-Vacuo
Cerebral ataxia
Infantile Neuroaxonal Dystrophy
Alexander Disease
MPTP Poisoning
Striatonigral Degeneration
Essential Tremor
Hemichorea
Athetoid cerebral palsy
Marie Cerebellar Ataxia
Corticostriatal-Spinal Degeneration
Familial Motor Neuron Disease
"Motor Neuron Disease, Lower"
Myelopathic Muscular Atrophy
Syringobulbia
Myelomalacia
Degenerative myelopathy
Binswanger Disease
Quadriparesis
Monoparesis
Autonomic hyperreflexia of bladder
Spastic Diplegia Cerebral Palsy
Hemiplegic cerebral palsy
Monoplegic Cerebral Palsy
Spastic syndrome
epilepsy and migraine
Gelastic Epilepsy
Petit mal status
Visual seizure
Complex partial seizure with impairment of consciousness
Tonic Seizures
Epileptic drop attack
"Benign Focal Epilepsy, Childhood"
Idiopathic generalized epilepsy
Benign neonatal epilepsy
Juvenile Myoclonic Epilepsy
Symptomatic Generalized Epilepsy
Early myoclonic encephalopathy
"Epilepsy, Reflex"
Abdominal Migraine
Basilar-Type Migraine
Hemiplegic migraine
Facial Myokymia
Idiopathic peripheral neuropathy
"Charcot-Marie-Tooth Disease, Type Ia (disorder)"
"Charcot-Marie-Tooth Disease, Type Ib"
"Charcot-Marie-Tooth disease, Type 1C"
Hereditary Motor and Sensory-Neuropathy Type II
Supranuclear paralysis
Axonal neuropathy
Peripheral demyelinating neuropathy
Paraneoplastic Polyneuropathy
Inflammatory neuropathy
Myasthenic crisis
Neurogenic Muscular Atrophy
Ocular muscular dystrophy
"Muscular Dystrophy, Oculopharyngeal"
Kocher-Debre-Semelaigne syndrome
Myotonia Levior
Congenital myopathy (disorder)
Multi-core congenital myopathy
Limb-girdle muscular dystrophy type 2H
Zebra body myopathy
Reducing-body myopathy
Floppy infant syndrome
Cornelia De Lange Syndrome
Infantile encephalopathy AND lactic acidosis
Metabolic myopathy
Alcohol myopathy
Secondary myopathy
Metallosis
Absent anterior chamber of eye
Phthisis bulbi
Macular retinal edema
Rhegmatogenous retinal detachment
Retinal microaneurysm with diabetes mellitus
Choroidal retinal neovascularization
Eales disease
Nonexudative age-related macular degeneration
Exudative age-related macular degeneration
Toxic maculopathy
"Retinoschisis, Juvenile, X-Linked"
Progressive cone dystrophy (without rod involvement)
Stargardt's disease
Usher Syndrome
Ectopic pupil
Secondary Open Angle Glaucoma
Secondary angle-closure glaucoma
Malignant glaucoma
Cortical cataract
Incipient cataract
Punctate cataract
Atopic cataract
Irvine-Gass Syndrome
Severe myopia
Metamorphopsia
"Scotoma, Centrocecal"
"Scotoma, Paracentral"
"Scotoma, Arcuate"
Central blindness
"Blindness, Legal"
Impairment level: total impairment of both eyes (disorder)
Blindness of one eye (disorder)
Oculovestibuloauditory syndrome
Xerotic keratitis
Epithelial basement membrane dystrophy
Schnyder crystalline corneal dystrophy
Corneal guttata
Corneal anesthesia
Corneal hypoesthesia
Chronic allergic conjunctivitis
Madarosis of eyelid
Orbital lymphoma
Glaucomatous atrophy of optic disc
Compression of optic nerve
Cavernous sinus syndrome
Manifest vertical squint
Fourth cranial nerve paresis
Convergence Insufficiency
Periodic Alternating Nystagmus
Symptomatic Nystagmus
Spontaneous Ocular Nystagmus
Horizontal Nystagmus
Vertical Nystagmus
Rebound Nystagmus
Pendular Nystagmus
Jerk Nystagmus
"Nystagmus, End-Position"
Scleral abscess
Synchysis scintillans
Disorder of middle ear
Acute otitis media
Chronic otitis media
Exudative otitis media
Serous otitis media
Chronic purulent otitis media
Eustachian tube disorder
Low frequency deafness
Cryptogenic sexual precocity
Isosexual precocious puberty
Pineal gland dysfunction
Overproduction of growth hormone
Idiopathic hyperprolactinemia
Lymphocytic hypopituitarism
Somatotropin deficiency
"Isolated Growth Hormone Deficiency, Type II"
Laron Syndrome
"Empty Sella Syndrome, Primary"
Isolated gonadotropin deficiency
Female hypogonadism syndrome
Isolated lutropin deficiency (disorder)
"ACTH Deficiency, Isolated"
"Prolactin Deficiency, Isolated"
Residual ovary syndrome
Precocious female puberty
Delayed female puberty
Hypogonadotropic hypogonadism
Mullerian inhibiting factor deficiency
Disorder of endocrine pancreas
Type 2 diabetes mellitus in obese
Malnutrition related diabetes mellitus
Fibrocalculous pancreatic diabetes
Impaired glucose tolerance
Impaired glucose tolerance in obese
"Gestational diabetes mellitus, class A>1<"
Symmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy
Diabetic Mononeuropathy
Diabetic Polyneuropathies
Sensory polyneuropathy
Mixed sensory-motor polyneuropathy
"Polyneuropathy, Motor"
Diabetic Amyotrophy
Diabetic Autonomic Neuropathy
"Insulin Receptor, Defect in"
Acquired generalized lipodystrophy
Familial partial lipodystrophy
Rabson-Mendenhall Syndrome
Iatrogenic hyperinsulinism
Factitious hypoglycemia
Hyperplasia of pancreatic islet beta cell
Fasting Hypoglycemia
Reactive hypoglycemia
Hypoglycemia of childhood
Ketotic hypoglycemia
"Hypoglycemia, leucine-induced"
Glucagon resistance
Iatrogenic Cushing's disease
Secondary hyperaldosteronism
Addison's disease due to autoimmunity
Hypocortisolism secondary to another disorder
Glucocorticoid deficiency with achalasia
Abnormality of cortisol-binding globulin
Adrenal calcification
Non-toxic multinodular goiter
Adult myxedema
"Hypothyroidism, Congenital, Nongoitrous, 4"
Subclinical hypothyroidism
Severe hypothyroidism
Transient hypothyroidism
Central hypothyroidism
Silent thyroiditis
Postpartum Thyroiditis
Focal thyroiditis
Iodide transport defect
Pendred's syndrome
X-linked reduction of thyroxine-binding globulin
Parathyroid hyperplasia
Familial hyperparathyroidism
Hyperparathyroidism due to vitamin D deficiency
Tertiary hyperparathyroidism
Idiopathic parathyroidism
Autoimmune hypoparathyroidism
Pseudohypoparathyroidism type I B
Hypothalamic obesity
Normocytic normochromic anemia
Microcytic hypochromic anemia (disorder)
Microcytic normochromic anemia
Acquired methemoglobinemia
Acquired aplastic anemia
Anemia of pregnancy
Anemia of chronic renal failure
"Congenital dyserythropoietic anemia, type I"
"Congenital dyserythropoietic anemia, type III"
Thiamine-responsive megaloblastic anemia
Thalassemia Intermedia
beta^0^ Thalassemia
Delta-Beta Thalassemia
delta beta^0^ Thalassemia
^A^gamma delta beta^0^ thalassemia
delta-Thalassemia
delta^0^ Thalassemia
Hereditary persistence of fetal hemoglobin thalassemia
HPFH deletion type
alpha^0^ Thalassemia
"alpha^+^ Thalassemia, deletion type"
Hemoglobin Bart's hydrops syndrome
Unstable hemoglobin disease
Secondary acquired sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia
stomatocytic anemia
Xerocytosis
Rh Deficiency Syndrome
Glycogen Storage Disease XII
Hemoglobin D disease
Hemoglobin D trait
Hemoglobin E trait
Congenital Methemoglobinemia
Anemia due to infection
Warm autoimmune hemolytic anemia
Evans syndrome
Drug-induced hemolytic anemia
Tn Syndrome
Erythroblastosis
Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to tissue hypoxemia
Disorder of neutrophils
Chronic neutrophilia
Reticular dysgenesis
Shwachman syndrome
Myelokathexis
Immune neutropenia
Alloimmune neonatal neutropenia
Drug-induced neutropenia
Qualitative abnormality of granulocyte
Congenital leukocyte adherence deficiency
eosinophilic syndrome
Familial eosinophilia
Eosinopenia
Familial Hemophagocytic Lymphocytosis
Indolent Systemic Mastocytosis
T lymphocyte disorder
Persistent lymphocytosis
Atypical lymphoproliferative disorder
"Chronic granulomatous disease, type II"
Hyperimmunoglobulin M syndrome
Transient hypogammaglobulinemia of infancy
Disorder of complement
Complement abnormality
Complement deficiency disease
Polyclonal gammopathy
Solitary Osseous Plasmacytoma
Cryofibrinogenemia
Systemic fibrinogenolysis
Familial hemorrhagic diathesis
Heparin-induced thrombocytopenia with thrombosis
Congenital thrombocytopenia
"Thrombocytopenia, cyclic"
Heparin-induced thrombocytopenia
Thrombocytopenia due to platelet alloimmunization
Drug-induced immune thrombocytopenia
Acute idiopathic thrombocytopenic purpura
Chronic idiopathic thrombocytopenic purpura
Thrombocytopenia due to sequestration
Gray Platelet Syndrome
Coagulation factor deficiency syndrome
Hereditary factor II deficiency disease
Severe hereditary factor VIII deficiency disease
Moderate hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease
"Factor 8 deficiency, acquired"
Hereditary factor X deficiency disease
Acquired factor X deficiency disease
"Factor XI deficiency, type II"
Hereditary factor XII deficiency disease
Prekallikrein deficiency
High molecular weight kininogen deficiency
"Familial multiple factor deficiency syndrome, type I"
"Familial multiple factor deficiency syndrome, type II"
"Dysfibrinogenemia, Congenital"
"von Willebrand disease, type IIC"
"von Willebrand disease, type IID"
Acquired von Willebrand's disease
ANTICOAGULANT DISORDERS
Antithrombin III Deficiency
Suppurative tonsillitis
Hypertrophy of tonsils
Hyperplasia of tonsils
Disorder of lymph node
Dermatopathic lymphadenitis
Virchow's node (disorder)
Hyposplenism
Functional asplenia
Atrophy of thymus gland
Lung Injury
Chronic mountain sickness
Brisket disease
Cutaneous anaphylaxis
Poisoning by fluorouracil
Inorganic Mercury Poisoning
"Mercury Poisoning, Organic"
"Arsenic Poisoning, Inorganic"
"Nervous System, Organic Arsenic Poisoning"
Toxic effect of heavy metal
Acute infectious disease
Coinfection
Congenital infectious disease
Acute bacterial peritonitis
Primary bacterial peritonitis
Bacterial cholangitis
Dermatophilosis due to Dermatophilus congolensis
Pulmonary Nocardiosis
Cutaneous nocardiosis
Infection due to Brucella suis
Infection due to Clostridium chauvoei
Congenital listeriosis
Brazilian purpuric fever
Infection due to Mycobacterium kansasii
Mycobacterium marinum Infection
Lyme carditis
Streptococcal tonsillitis
Streptococcal lymphadenitis of swine
"Tuberculosis, Central Nervous System"
Tuberculosis of brain
Tuberculosis of intestines
Tuberculous ascites
Acute tuberculosis
Glandular tularemia
Enteric campylobacteriosis
Glasser's disease
Chronic respiratory disease due to Mycoplasma gallisepticum
Contagious bovine pleuropneumonia
Ecthyma gangrenosum
Escherichia coli septicemia
Pneumonia due to Escherichia coli
edema disease
Mastitis-metritis-agalactia syndrome
Chlamydia psittaci infection
Viral myocarditis
Subacute adenoviral encephalitis
Egg drop syndrome
Goatpox
Canarypox (disorder)
Recurrent herpes simplex
Herpes encephalitis
Duck viral enteritis
Infectious pustular vulvovaginitis
Cytomegalovirus hepatitis
Cytomegaloviral pneumonia
Lymphocystis disease
Verruca plana
Oral papillomatosis
Teat papillomatosis
Disease due to Parvoviridae
Mink parvovirus infection
Zika Virus Infection
Respiratory syncytial virus bronchiolitis
Swine influenza
La Crosse Encephalitis
Enteroviral encephalomyelitis
Enterovirus meningitis
Acute type A viral hepatitis
Rhinovirus infection
Familial Alzheimer Disease (FAD)
Human immunodeficiency virus II infection
Pneumonia associated with AIDS
AIDS with Kaposi's sarcoma
HIV encephalitis
Acute type B viral hepatitis
Acute viral hepatitis
Chronic viral hepatitis
Chronic active viral hepatitis
Pseudoscarlatina
Transmissible mink encephalopathy
Aspergilloma
Invasive Pulmonary Aspergillosis
Infection by Aspergillus fumigatus
Infection by Aspergillus flavus
Pulmonary paracoccidioidomycosis
Disseminated coccidioidomycosis
Coccidioidal granuloma
Infection by Candida albicans
Disseminated cryptococcosis
Pulmonary cryptococcosis
Phaeohyphomycosis
Kerion celsi
Fusariosis
Congenital malaria
Infection by Cytauxzoon
Infection by Hepatozoon
Infection by Babesia bovis
Infection by Trypanosoma evansi
Infection by Leishmania infantum
Zoonotic form of cutaneous leishmaniasis
Infection by Pneumocystis jirovecii (disorder)
Intestinal nematode infection
Schistosoma hematobium infection
Opisthorchis felineus Infection
Opisthorchis viverrini Infection
Angiostrongylus cantonensis infection
Infection by Baylisascaris
Infection by Toxocara canis
Infection by Spirocerca
Infection by Haemonchus
Infection by Strongyloides stercoralis
Disease due to Acanthocephala
Infection by Polymorphus
Infestation by bed bug
Flea Infestation
Tunga penetrans infestation
Infectious colitis
Infectious gastroenteritis
Dysenteric diarrhea
Epidemic diarrhea
Traveler's diarrhea
Juvenile disease
Pathognomonic sign
Extreme exhaustion
Intermittent fever
Clasp-Knife Spasticity
Extrapyramidal Rigidity
Early fontanel closure
Late fontanel closure
Hoffman's Reflex
"Reflex, Pendular"
Nasal Flaring
Postthrombotic Syndrome
Blanching of skin
Butterfly rash
Coarse hair
Dry hair
Murphy's sign
Normal bowel habits
Altered bowel function
Change in stool consistency
Aciduria
Abnormal mental state
Behavioral tic
Psychological addiction
Physical addiction
Abnormal male sexual function
"Hemiplegia, Crossed"
"Paraplegia, Cerebral"
"Paraplegia, Spinal"
Absence of sensation
Moderate pain
Excruciating pain
Dull pain
Radicular pain
Hemifacial Spasm
"Ataxia, Motor"
Posttraumatic aphasia
Scanning speech
"Reflex Epilepsy, Reading"
"Reflex, Corneal, Absent"
Prognosis bad
Stage I Colon Carcinoma
Stage II Colon Cancer
Stage III Colon Cancer
Malignant neoplasm of colon stage IV
Carcinoma breast stage I
Breast cancer stage II
Stage III Breast Cancer AJCC v6
Carcinoma breast stage IV
Stage IIIA Breast Carcinoma
Breast cancer recurrent
Malignant neoplasm of stomach stage I
Malignant neoplasm of stomach stage II
Malignant neoplasm of stomach stage III
Malignant neoplasm of stomach stage IV
recurrent gastric cancer
Non-small cell lung cancer stage I
Non-small cell lung cancer stage II
Non-small cell lung cancer stage III
Childhood Medulloblastoma
Osteosarcoma localised
Metastatic osteosarcoma
Stage IIIB Breast Carcinoma
Non-small cell lung cancer recurrent
Recurrent Childhood Acute Lymphoblastic Leukemia
Rectal cancer stage I
Stage II Rectal Cancer
Stage III Rectal Cancer AJCC v6
Recurrent Rectal Cancer
Anal cancer recurrent
stage III cervical cancer
Cervix carcinoma recurrent
recurrent cutaneous T-cell lymphoma
stage IB cervical cancer
Cervical carcinoma stage IIB
Metastatic Carcinoma to the Uterine Cervix
Metastatic Ewing's Sarcoma
Ewing's sarcoma recurrent
Adult Angiosarcoma
Adult Fibrosarcoma
childhood infratentorial ependymoma
Childhood Brain Stem Glioma
Inflammatory Breast Carcinoma
Adult Leiomyosarcoma
Adult Liposarcoma
Extramedullary Plasmacytoma
Adult Malignant Peripheral Nerve Sheath Tumor
Recurrent Childhood Rhabdomyosarcoma
Childhood Supratentorial Ependymoma
Childhood Craniopharyngioma
Adult Synovial Sarcoma
Metastatic Renal Cell Cancer
Renal cell carcinoma recurrent
metastatic parathyroid cancer
recurrent parathyroid cancer
Stage I Ovarian Cancer AJCC v6 and v7
Ovarian epithelial cancer stage II
Ovarian cancer stage III
Stage IV Ovarian Carcinoma
Recurrent ovarian cancer
Disseminated neuroblastoma
Neuroblastoma recurrent
Gastric Adenocarcinoma
Malignant Childhood Neoplasm
stage IV Wilms tumor
recurrent Wilms tumor and other childhood kidney tumors
Intraocular retinoblastoma
Extraocular retinoblastoma
Adult Lymphoblastic Lymphoma
DS Stage I Plasma Cell Myeloma
Small cell lung cancer limited stage
Small cell lung cancer extensive stage
Small cell lung cancer recurrent
Mesothelioma malignant advanced
Mesothelioma malignant recurrent
Adult Diffuse Large Cell Lymphoma
Adult Immunoblastic Lymphoma
Adult Burkitt Lymphoma
Chronic lymphocytic leukaemia stage 3
recurrent childhood acute myeloid leukemia
Osteosarcoma recurrent
Recurrent Adult Acute Lymphoblastic Leukemia
"Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive"
Chronic lymphocytic leukaemia refractory
Endometrial neoplasm malignant stage I
Endometrial cancer stage II
Endometrial cancer stage III
Endometrial neoplasm malignant metastatic
Recurrent Endometrial Cancer
Adenocarcinoma of small intestine
Adenocarcinoma of duodenum
Small Intestinal Lymphoma
Bladder cancer recurrent
Stage I Prostate Carcinoma
Stage III Prostate Carcinoma
Stage IV Prostate Carcinoma
Prostate cancer recurrent
Childhood Diffuse Large Cell Lymphoma
Childhood Immunoblastic Lymphoma
Thymoma malignant invasive
Stage IV Thyroid Gland Papillary Carcinoma AJCC v7
Recurrent Thyroid Carcinoma
Growth Hormone-Producing Pituitary Gland Neoplasm
Adult Ependymoma
Adult Craniopharyngioma
Adult Medulloblastoma
Adult Meningioma
Adult Glioblastoma
Childhood Burkitt Lymphoma
Stage I Cutaneous Melanoma AJCC v6
stage II melanoma
Stage III Cutaneous Melanoma AJCC v6
Metastatic melanoma
Melanoma recurrent
Nasopharyngeal cancer recurrent
Non-small cell lung cancer stage IIIA
Non-small cell lung cancer stage IIIB
Adult Extraskeletal Osteosarcoma
Metastatic non-small cell lung cancer
Recurrent Salivary Gland Cancer
Malignant Head and Neck Neoplasm
Liver and Intrahepatic Biliary Tract Carcinoma
Childhood Germ Cell Tumor
Childhood Solid Neoplasm
Adult Oligodendroglioma
Kaposi's sarcoma classical type
Adult Acute Myeloid Leukemia in Remission
Childhood Acute Myeloid Leukemia in Remission
Childhood Lymphoblastic Lymphoma
Malignant Bone Neoplasm
Adult Nodular Sclerosis Classical Hodgkin Lymphoma
Philadelphia chromosome positive chronic myelogenous leukemia
Adult Alveolar Soft Part Sarcoma
Adult Epithelioid Sarcoma
Adult Undifferentiated Pleomorphic Sarcoma
Philadelphia chromosome negative chronic myelogenous leukemia
Adult Rhabdomyosarcoma
Adenosquamous cell lung cancer
Lobular carcinoma in situ of breast
Invasive Lobular Breast Carcinoma
Childhood L2 Acute Lymphoblastic Leukemia
Childhood Burkitt Leukemia
Childhood T Acute Lymphoblastic Leukemia
Childhood B Acute Lymphoblastic Leukemia
Adult Burkitt Leukemia
Adult T Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia
Fibroblastic osteosarcoma
Chondroblastic osteosarcoma
Childhood Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
blastema predominant Wilms tumor
Childhood Embryonal Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma
Childhood Pleomorphic Rhabdomyosarcoma
Adult Acute Erythroid Leukemia
Small cell osteosarcoma
Adult Acute Myeloid Leukemia without Maturation
Adult Acute Promyelocytic Leukemia with PML-RARA
Squamous cell carcinoma of esophagus
Adult Acute Myelomonocytic Leukemia
Adenocarcinoma Of Esophagus
Adult Acute Monoblastic Leukemia
Adult Acute Eosinophilic Leukemia
Adult Acute Basophilic Leukemia
Adult Acute Megakaryoblastic Leukemia
intestinal adenocarcinoma of the stomach
Anal carcinoma
Mucinous adenocarcinoma of colon
Childhood Acute Promyelocytic Leukemia with PML-RARA
Undifferentiated Carcinoma of Colon
Childhood Acute Myelomonocytic Leukemia
Childhood Acute Monoblastic Leukemia
Childhood Acute Monocytic Leukemia
Childhood Acute Eosinophilic Leukemia
Childhood Acute Basophilic Leukemia
Childhood Acute Megakaryoblastic Leukemia
Gallbladder adenocarcinoma
Gallbladder squamous cell carcinoma
Acinar cell carcinoma of pancreas
Serous cystadenocarcinoma ovary
Cervical Squamous Cell Carcinoma
Cervical Adenocarcinoma
Small cell carcinoma of the cervix
Transitional cell carcinoma of bladder
Bladder Squamous Cell Carcinoma
Bladder Adenocarcinoma
salivary gland squamous cell carcinoma
Squamous cell carcinoma of nasopharynx
Conventional (Clear Cell) Renal Cell Carcinoma
"Thymoma, type B3"
Lymphoepithelial malignant thymoma
Testicular yolk sac tumour
low-grade salivary gland carcinoma
Acinic cell carcinoma of salivary gland
high-grade salivary gland carcinoma
high-grade salivary gland mucoepidermoid carcinoma
Adenocarcinoma of salivary gland
Undifferentiated carcinoma of nasopharynx
Adenoid cystic carcinoma of salivary gland
endometrial adenoacanthoma
Endometrial Clear Cell Adenocarcinoma
metastatic pheochromocytoma
recurrent pheochromocytoma
Oropharyngeal cancer recurrent
Childhood Nodular Sclerosis Classic Hodgkin Lymphoma
Metastatic Childhood Soft Tissue Sarcoma
Extra-osseous Ewing's sarcoma
Childhood Synovial Sarcoma
Malignant Childhood Hemangiopericytoma
Childhood Liposarcoma
Childhood Alveolar Soft Part Sarcoma
Childhood Leiomyosarcoma
Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Angiosarcoma
Childhood Epithelioid Sarcoma
childhood malignant fibrous histiocytoma of bone
Refractory anemia with excess blasts in transformation (clinical)
Carcinoid tumor of lung
Adult Solid Neoplasm
Solid Neoplasm
Ovarian Teratoma
Ovarian germ cell tumour mixed
Acute Undifferentiated Leukemia
"stage, Kaposi sarcoma"
"stage, renal cell cancer"
"stage, nasopharyngeal cancer"
"stage, neuroblastoma"
"stage, non-small cell lung cancer"
"stage, bladder cancer"
"stage, ovarian epithelial cancer"
"stage, pancreatic cancer"
"stage, cervical cancer"
"stage, rectal cancer"
"stage, retinoblastoma"
"stage, chronic lymphocytic leukemia"
"stage, colon cancer"
"stage, gastric cancer"
"stage, endometrial carcinoma"
"stage, esophageal cancer"
"stage, vulvar cancer"
"stage, prostate cancer"
lip and oral cavity squamous cell carcinoma
Squamous cell carcinoma of buccal mucosa
Hard Palate Squamous Cell Carcinoma
Squamous cell carcinoma of lip
Verrucous carcinoma of oral cavity
Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of tonsil
Squamous cell carcinoma of the hypopharynx
Laryngeal Squamous Cell Carcinoma
Glottic Squamous Cell Carcinoma
Laryngeal verrucous carcinoma
Squamous cell carcinoma of the nasal cavity
Metastatic Squamous Cell Carcinoma of the Oropharynx
Laryngeal squamous cell carcinoma recurrent
Adult T-cell lymphoma/leukaemia recurrent
secondary acute myeloid leukemia
de novo myelodysplastic syndromes
basaloid carcinoma of the anus
Childhood Glioblastoma
Childhood Oligodendroglioma
Adult Anaplastic Astrocytoma
Uterine Carcinosarcoma
Leiomyosarcoma of uterus
Adult Acute Monocytic Leukemia
Adult Cholangiocarcinoma
AIDS-related malignancies
secondary myelodysplastic syndromes
Sarcoma of ovary
Adult Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma
Diffuse Astrocytoma
Adult Anaplastic Ependymoma
Anaplastic Ependymoma
Adult Anaplastic Oligodendroglioma
Mixed Oligodendroglioma-Astrocytoma
Grade III Meningioma
Primary central nervous system lymphoma
Squamous cell carcinoma of vulva
Bone Marrow Suppression
AIDS-related primary CNS lymphoma
AIDS-related diffuse large cell lymphoma
bilateral breast cancer
Adult Subependymoma
Adult Pineocytoma
Adult Pineoblastoma
Adult Papillary Meningioma
Adenocarcinoma of pancreas
Respiratory papilloma
Primary Systemic Amyloidosis
Desmoplastic Small Round Cell Tumor
Intraocular Lymphoma
Childhood Large Cell Lymphoma
Acute glaucoma
Acute psychosis
Anal abscess
Condyloma anal
asymptomatic hyperuricemia
Benign Meningioma
Biventricular hypertrophy
Abnormality of the fallopian tube
Laryngeal web
Prolapsed lumbar disc
maladjustment
Swelling of skeletal muscle
Peripheral arteriosclerosis
Pseudohypothyroidism
Retinal infarction
Superficial Infection
Dilation of the thoracic aorta
Biliary Sludge
"Chondrodysplasia punctata, X-linked dominant type"
"Depression, Neurotic"
Aplasia Cutis Congenita
Iron Overload
Phosphate Diabetes
Cronkhite-Canada Syndrome
Amaurotic Familial Idiocy
Bubonic Plague
"Condition, Preneoplastic"
Interstitial Cystitis
Sneddon Syndrome
Heat Stress Disorders
Landau-Kleffner Syndrome
Primary Progressive Aphasia (disorder)
"Adrenoleukodystrophy, Neonatal"
Hyperpipecolic Acidemia
Infantile Refsum Disease (disorder)
Peroxisomal Disorders
"Chondrodysplasia Punctata, Rhizomelic"
Leukostasis
Persian Gulf Syndrome
Congenital Disorders of Glycosylation
Myomatous neoplasm
Vascular Neoplasms
Bone Marrow Neoplasms
Prostatic Intraepithelial Neoplasias
HIV Enteropathy
Facies
"Smith-Lemli-Opitz Syndrome, Type I"
"Smith-Lemli-Opitz Syndrome, Type II"
Very Low Birth Weight
"Infant, Very Low Birth Weight"
"Hemorrhagic Fever, Ebola"
Primary Amebic Meningoencephalitis
Caudal Regression Syndrome
Hypersensitivity reaction mediated by immune complex
Achromatopsia 1
Deformity
Tuberous xanthoma
Condyloma
Hexadactyly
Juvenile cataract
Glutamine measurement
Adrenogenital Syndrome
Xanthoma
"Porokeratosis, Linear"
Reticulohistiocytosis
"Malignant lymphoma centroblastic, diffuse"
Poisoning syndrome
"incomplete anencephaly, hemicrania"
Disease caused by Shigella dysenteriae
Disease caused by Shigella boydii
Disease caused by Shigella sonnei
Brucella melitensis infection
Dissecting Abdominal Aortic Aneurysm
Erythrophagocytosis
Parainfluenza Virus Infections
Small for gestational age fetus
Pathological personality NOS
Cervix carcinoma
Fulminant hepatitis
Uremia syndrome
Expressed Emotion
Toxic thyroid adenoma
MCV - raised
OSTEOLYTIC BONE LESION
major affective disorder
Euthyroid Goiter
"MYELOMA, ENDOTHELIAL"
Depressive personality disorder
SMITH DISEASE
Testicular dysgenesis
Congenital porencephaly
Stucco keratosis
Dermatitis verrucosa
Cutaneous pseudolymphoma
Goniodysgenesis
Congenital cystic kidney disease
Cryptophthalmos
Simple buphthalmos
Chronic mesenteric ischemia
Irreducible ventral hernia
Severe malnutrition
"Obesity, Abdominal"
Lipoid dermatoarthritis
Generalized convulsive epilepsy
Grand Mal Status Epilepticus
Morton Neuroma
Fundus Albipunctatus
Membranous conjunctivitis
ovarian cystic disease
Adenomatous goiter
Anemia due to decreased red cell production
Idiopathic eosinophilia
Lupus anticoagulant disorder
Arsenic Poisoning
Isosporiasis
Harvest mite infestation
Difficulty walking
Increased bilirubin level (finding)
Menstrual spotting
Hypersexuality state
Blackout - symptom
Extravascular Hemolysis
Dryness of eye
Received therapy or drug for
Morphologically abnormal structure (morphologic abnormality)
Erythematous plaque
Fibrous nodule
Papule
Macule
Cushingoid facies
Elfin facies
Myopathic facies
"Diastasis, Bone"
Osseous ankylosis
Amputated structure (morphologic abnormality)
Anastomosis
Congenital dysplasia
Congenital premature fusion
Congenital contracture
Congenital pseudoarthrosis
congenital obstruction
Congenital stenosis
Coarctation
Congenital hypertrophy
Congenital hemihypertrophy
Congenital unilateral absence
bilateral agenesis
Congenital failure of fusion
Overriding structures
Anomalous vascular distribution
Congenital vascular proliferation
Congenital hemangiomatosis
Malassez' epithelial rests
Congenital hypopigmentation
Microlithiasis
Fungus ball
Posterior displacement
Recession
Hernia sac
Flexion contracture
Claw-shaped deformity
Fusiform Aneurysm
Microaneurysm
Sacculation
Open comedone
Mucus cast
Calcifying cyst
Colloid Cysts
Air cyst
Pseudocyst
Partial stenosis
Calcific stenosis
Stricture obstruction
Cicatricial stenosis
Fibrous stenosis
Occlusive thrombus
Mural thrombus
Fibrin thrombus
Platelet thrombus
Microembolus
Active Hyperemia
Acute edema
Pitting edema
Transient edema
Massive edema
Purulent discharge
Bleeding ulcer
Healing ulcer
Recurrent ulcer
Acute ulcer
Chronic ulcer
Superficial ulcer
Sequestrum
Fibrous body
Involucrum
Spontaneous Perforation
Inflammatory disease of mucous membrane
Sulfur granules
Abscess cavity
Sarcoid type granuloma
Hyaline body
Granulovacuolar degeneration
Segmental demyelination
Senile Plaques
Phlebosclerosis
Segmental glomerulosclerosis
Tumor necrosis
Caries (morphologic abnormality)
Deep caries
Maceration
"Infarction, Lacunar"
Atrophic
Abiotrophy
Hemiatrophy
Triploidy syndrome
Chromosome Breaks
Muscle fiber atrophy
Muscle fiber hypertrophy
Tubular aggregates
Pappenheimer body (morphologic abnormality)
Giant platelet (morphologic abnormality)
Squamous intraepithelial lesion
High-Grade Squamous Intraepithelial Lesions
Hypochromatism
Focal Nodular Hyperplasia
Hyperplastic Polyp
"Acanthoma, Clear Cell"
Lymphoid hyperplasia
Nodular lymphoid hyperplasia
Phrynoderma
Apocrine metaplasia
Intestinal metaplasia
Nephrogenic metaplasia
Osteoma cutis
Adenosis
cystic disease
Non-Ossifying Fibroma
Maturation defect
"NEVUS, EPIDERMAL (disorder)"
"Connective tissue nevus, NOS"
Biliary hamartoma
Hamartomatous polyp
Intimal proliferation
Lymphangiomatosis
Bowenoid papulosis
Multiple polyps
Eosinophilic granulomatous polyp
Mucus polyp
Inflammatory Myofibroblastic Tumor
Microglial nodules
Fibrous bands
Pseudoainhum
Atrophic endometrium
"Malignant tumor, giant cell type"
"Malignant tumor, fusiform cell type"
Pleomorphic carcinoma
Combined small cell carcinoma
Papillary squamous cell carcinoma
Intraepithelial Squamous Cell Carcinoma
"Squamous cell carcinoma, metastatic"
"Squamous cell carcinoma, keratinizing"
Acantholytic squamous cell carcinoma
"Squamous cell carcinoma, microinvasive"
Lymphoepithelial carcinoma
Trichofolliculoma
Trichilemmoma
Transitional Cell Neoplasm
"Transitional cell papilloma, benign"
Transitional cell carcinoma in situ
Schneiderian papilloma
Papillary transitional cell carcinoma
Adenocarcinoma in Situ
"Adenocarcinoma, metastatic"
"Adenocarcinoma, intestinal type"
"Carcinoma, diffuse type"
"Insulinoma, malignant"
Bile duct cystadenocarcinoma
Fibrolamellar Hepatocellular Carcinoma
tubular adenomas and adenocarcinomas
Tubular adenoma
Multiple adenomatous polyps
Solid carcinoma
Carcinoid tumor no ICD-O subtype
Adenocarcinoid tumor
Tubulovillous adenoma
Adenocarcinoma in tubulovillous adenoma
Cystadenofibroma
Lipid-rich carcinoma
Microfollicular adenoma
Juxtaglomerular tumor
Endometrioid adenoma
"Endometrioid adenoma, borderline malignancy"
Skin appendage adenoma
Sweat gland adenocarcinoma
Apocrine adenoma
Apocrine adenocarcinoma
Eccrine spiradenoma
Hidradenoma Papilliferum
Eccrine papillary adenoma
"Serous cystadenoma, borderline malignancy"
Papillary cystic tumor
Papillary serous cystadenocarcinoma
Serous surface papillary carcinoma
Mucinous cystic tumor of borderline malignancy
Mucin-producing adenocarcinoma
"Comedocarcinoma, noninfiltrating"
Secretory breast carcinoma
Noninfiltrating intraductal papillary adenocarcinoma
Intraductal papillary adenocarcinoma with invasion
Non-infiltrating lobular carcinoma
Infiltrating duct and lobular carcinoma
Inflammatory carcinoma
Acinar cell tumor
Epithelial-myoepithelial carcinoma
Adenocarcinoma with squamous metaplasia
Malignant Ovarian Thecoma
Sclerosing stromal tumor
Malignant Granulosa Cell Tumor
Juvenile granulosa cell tumor
"Leydig cell tumor, benign"
Lipid cell tumor of ovary
Sympathetic paraganglioma
Parasympathetic paraganglioma
"Pheochromocytoma, malignant"
Glomangioma
Nodular melanoma
"Malignant melanoma, regressing"
Fibrous papule of nose
Melanocytoma
Nonpigmented nevus
Superficial spreading malignant melanoma of skin
Malignant desmoplastic melanoma
Epithelioid Cell Melanoma
Spindle Cell Melanoma
Malignant blue nevus of skin
Cellular Blue Nevus
Sarcomatosis
"Dermatofibrosarcoma Protuberans, Myxoid"
Infantile fibrosarcoma
Elastofibroma
Malignant Fibrous Histiocytoma
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Fibrolipoma
Round Cell Liposarcoma
Intramuscular lipoma
Spindle cell lipoma
Lipoblastomatosis
Cellular leiomyoma
Bizarre leiomyoma
Pleomorphic Rhabdomyosarcoma
Fetal rhabdomyoma
Adult rhabdomyoma
Endometrial stromal nodule
Low Grade Endometrial Stromal Sarcoma
Clear cell sarcoma of kidney
Pancreatoblastoma
Benign Mesenchymoma
Malignant mesenchymal tumor
Proliferating Brenner Tumor
"Synovial sarcoma, spindle cell"
"Synovial sarcoma, epithelioid cell"
"Synovial sarcoma, biphasic"
"Clear cell sarcoma, of tendons and aponeuroses"
Pleural Solitary Fibrous Tumor
Sarcomatoid Mesothelioma
"Mesothelioma, biphasic, malignant"
Spermatocytic seminoma
Polyembryoma
"Teratoma, Malignant"
Mixed Germ Cell Tumor
"Struma ovarii, malignant"
"Hydatidiform Mole, Partial"
Arteriovenous hemangioma
"Epithelioid hemangioendothelioma, malignant"
"Hemangiopericytoma, Malignant"
"Chondroblastoma, malignant"
Myxoid chondrosarcoma
Malignant Giant Cell Tumor of Bone
Giant Cell Tumor of Soft Tissue
"Odontogenic tumor, benign"
Malignant odontogenic tumor
Adenoameloblastoma
Ghost Cell Odontogenic Carcinoma
Malignant Ameloblastoma
Odontogenic myxoma
Ameloblastic fibroma
Calcifying Epithelial Odontogenic Tumor
Gliomatosis cerebri
Papillary ependymoma
Anaplastic astrocytoma
Protoplasmic astrocytoma
Gemistocytic astrocytoma
Fibrillary Astrocytoma
Pilocytic Astrocytoma
Spongioblastoma
Pleomorphic Xanthoastrocytoma
Astroblastoma
Giant Cell Glioblastoma
Anaplastic Oligodendroglioma
Ganglioneuromatosis
Medulloepithelioma
"Retinoblastoma, differentiated"
Meningothelial meningioma
Fibrous Meningioma
Psammomatous Meningioma
Angiomatous Meningioma
Hemangioblastic Meningioma
Hemangiopericytic Meningioma
Transitional Meningioma
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Malignant granular cell tumor
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
Malignant lymphoma - lymphoplasmacytic
"Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse"
Malignant lymphoma - centrocytic
"Malignant lymphoma, mixed small and large cell, diffuse"
Malignant lymphomatous polyposis
Angioendotheliomatosis
Histiocytic sarcoma
Mast Cell Neoplasm
Acute panmyelosis with myelofibrosis
Chief cell adenocarcinoma
C cell tumor
Endometrial Stromal Tumors
Malignant myoepithelioma
"Gait, Stumbling"
Fibrinogen assay
Androstenedione measurement
Estradiol measurement
Glucagon measurement
Glucose measurement
Iron measurement
Sodium measurement
Thyroglobulin measurement
Tyrosine measurement
Moderate drinker
Childhood Cerebral Astrocytoma
Non-Functioning Pituitary Gland Neoplasm
Adenocarcinoma of colon
Uterine Corpus Sarcoma
recurrent childhood brain stem glioma
Recurrent Childhood Medulloblastoma
Aseptic peritonitis
Enteroviral encephalitis
Rocio virus encephalitis
Bacterial encephalitis
Limbic Encephalitis
Neurocysticercosis
Familial Alzheimer's disease of early onset
Frontotemporal dementia
Dementia of frontal lobe type
"Aphasia, Progressive"
Argyrophilic grain disease
Semantic Dementia
Epilepsy co-occurrent and due to dementia
"Tic Disorders, Vocal"
Neuroaxonal Dystrophies
Central nervous system demyelination
Idiopathic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy
Common Migraine
Migraine with Prolonged Aura
Familial Hemiplegic Migraine
Benign paroxysmal vertigo of childhood
Alternating hemiplegia of childhood
Status Migrainosus
"Sleep Apnea, Mixed Central and Obstructive"
Hypoplasia of the optic nerve
Septo-Optic Dysplasia
Pit of optic disc
Non-arteritic ischemic optic neuropathy
Optic Atrophy 1
Leprosy neuropathy
Sciatic nerve compression
Cerebral venous sinus thrombosis
Sagittal Sinus Thrombosis
Sporadic Cerebral Amyloid Angiopathy
Dissection of carotid artery
Vertebral Artery Dissection
"Amnesia, Transient Global"
Acquired communicating hydrocephalus
Spastic cerebral palsy
Choroid plexus cyst
Psychotic episodes
Senile Paranoid Dementia
"Catatonia, Organic"
Impaired cognition
Age-associated memory impairment
Drug-induced depressive state
Opium Dependence
Cycloid psychosis
Manic
Psychasthenic neurosis
Needle phobia
Mixed anxiety and depressive disorder
Atypical autism
Adolescent - emotional problem
"Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type"
Hyperkinetic conduct disorder
"Conduct disorder, childhood-onset type"
Floppy lid syndrome
Sebaceous adenocarcinoma of eyelid
Thyroid associated opthalmopathies
Seasonal allergic conjunctivitis
Perennial allergic conjunctivitis
Ankyloblepharon
Superior limbic keratoconjunctivitis
Pseudophakic corneal edema
Salzmann nodular dystrophy
"Corneal dystrophy, Lattice type 3"
"Corneal Dystrophy, Juvenile Epithelial of Meesmann"
Reis-Bucklers' corneal dystrophy
Pre-descemet's corneal dystrophy
Polymorphous corneal dystrophy
Exposure keratoconjunctivitis
Neurotrophic keratitis
Corneal graft rejection
Neoplasm of cornea
Anterior uveitis idiopathic
Non-infectious anterior uveitis
Capsular cataract (disorder)
Infantile cataract
Choroidal and/or chorioretinal disorder
Birdshot chorioretinitis
Presumed ocular histoplasmosis syndrome
Choroidal effusion
Macular retinoschisis
Proliferative retinopathy
Visually threatening diabetic retinopathy
Maculopathy with diabetes mellitus
Lipidemia retinalis
Parafoveal telangiectasia
Sickle cell retinopathy
Cilioretinal artery occlusion
Central retinal vein occlusion - juvenile
Venous retinal branch occlusion
Hereditary macular dystrophy
Vitelliform Macular Dystrophy
Bull's eye macular dystrophy
Dominant drusen
Autosomal dominant retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Leber Congenital Amaurosis
X-linked retinitis pigmentosa
Progressive cone-rod dystrophy
Usher syndrome type 2
"Night blindness, congenital stationary"
Cone monochromatism
Familial Exudative Vitreoretinopathy
Goldmann-Favre syndrome (disorder)
Epiretinal Membrane
Retinal Pigment Epithelial Detachment
Congenital hypertrophy of retinal pigment epithelium
Amyloid of vitreous
"Glaucoma, Primary Open Angle"
Glaucoma due to combination of mechanisms
Corticosteroid-induced glaucoma
Congenital esotropia
Primary Esotropia
Secondary Esotropia
Consecutive exotropia
Strabismus fixus
Vertical retraction syndrome
Horizontal gaze palsy
Vertical gaze palsy
Afferent Pupillary Defect
Nystagmus and other irregular eye movements
Axial hypermetropia
Simple myopia
Index myopia
Regular astigmatism - corneal
Internal Ophthalmoplegia
Congenital color blindness
"Blindness, Acquired"
Congenital deafness
Cat allergy (disorder)
House dust mite allergy
Anterior epistaxis
Traumatic epistaxis
Concha bullosa
Nasal vestibulitis
Bifid epiglottis
Laryngeal amyloidosis
Acute respiratory infections
Lung disease with systemic sclerosis
Viral upper respiratory tract infection
Acute viral bronchiolitis
Secondary bacterial pneumonia
Fungal pneumonia
Pulmonary mucormycosis
Hemorrhagic pneumonia
Neonatal pneumonia
Idiopathic bronchiectasis
Asbestos pleurisy
Catamenial pneumothorax
"Chylothorax, congenital"
Pleural plaque
Mucociliary clearance defect
Young Syndrome
Acute exacerbation of chronic obstructive airways disease
Postoperative atelectasis
Asthmatic pulmonary eosinophilia
Summer-Type Hypersensitivity Pneumonitis
Neurogenic pulmonary edema
High altitude pulmonary edema
Lofgrens syndrome
Simple pneumoconiosis
Complicated pneumoconiosis
Respiratory failure without hypercapnia
Tracheal diverticulosis
Tracheobronchomalacia
Bronchobiliary fistula
Infectious disorder of bronchus
Sepsis-associated lung injury
Atrial hypertrophy
Ventricular hypertrophy
Triple vessel disease of the heart
Stable angina
Silent myocardial ischemia
Anterior myocardial infarction
Inferior Wall Myocardial Infarction
Posterior myocardial infarction
Silent myocardial infarction
Q fever endocarditis
Prosthetic valve endocarditis
Familial mitral valve prolapse
Functional mitral regurgitation
Subaortic stenosis
Functional tricuspid regurgitation
Cardiac glycogenosis
Hypertrophic cardiomyopathy without obstruction
Familial dilated cardiomyopathy
Familial restrictive cardiomyopathy (disorder)
Dystrophic cardiomyopathy
Premature Cardiac Complex
Re-entrant atrial tachycardia
Re-entrant atrioventricular tachycardia
Familial ventricular tachycardia
Induced ventricular tachycardia
Lone atrial fibrillation
Familial sick sinus syndrome
Paroxysmal familial ventricular fibrillation
Atrial thrombosis
Athlete's heart
Acute massive pulmonary embolism
Pulmonary fat embolism
Sporadic primary pulmonary hypertension
Familial primary pulmonary hypertension
Pulmonary arterial hypertension induced by drug
Pulmonary capillary hemangiomatosis
High altitude pulmonary hypertension
Atherosclerotic renal artery stenosis
Arterial ischemia
Lower limb ischemia
Critical lower limb ischemia
Internal Carotid Artery Stenosis
Arterial aneurysm
Aortic aneurysm without mention of rupture NOS
"Aortic Aneurysm, Thoracoabdominal"
Carotid artery aneurysm
Dissection of aorta
Distal aortic dissection
dissection of coronary artery
Dissection of iliac artery
Superior mesenteric vein thrombosis
Deep vein thrombosis of lower limb
Iliofemoral deep vein thrombosis
Venous embolism
"Stenosis, Pulmonary Vein"
Inferior vena cava stenosis
Venous hypertension
Aneurysm of vein
Hyperplastic lymph node
Capillary malformation (disorder)
Hereditary vascular fragility
Capillary-venous malformation
Hennekam lymphangiectasia-lymphedema syndrome
"PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE"
Neurally mediated syncope
Vascular graft infection
Arteriovenous fistula stenosis
Arteriovenous fistula thrombosis
Secondary anemia NOS
Congenital deficiency of intrinsic factor
Deficiency of pyruvate kinase
Uridine monophosphate hydrolase deficiency
Congenital neutropenia
Autoimmune neutropenia
May-Hegglin anomaly
Splenic atrophy
Cryoglobulinemic vasculitis
Alveolar ridge abnormality
Oral herpes simplex infection
Chronic hyperplastic candidiasis
Temporomandibular joint internal derangement
Lateral developmental cyst of jaw
Jaw Keratocyst
Hypertrophy of parotid gland
Chronic sialadenitis
Lip pit
Eosinophilic esophagitis
Esophageal erosions
Esophageal atresia with tracheoesophageal fistula (disorder)
Reactive gastritis
Gastroduodenal intussusception
Dieulafoy's vascular malformation
Chronic duodenitis
Diverticulosis of the duodenum
Disorder of small intestine
Acute radiation enteritis
Ulcerative jejunitis
Collagenous Sprue
Autoimmune enteropathy
Microvillus inclusion disease
Enterocutaneous Fistula
Indeterminate colitis
Cytomegaloviral colitis
Acute suppurative appendicitis
Perianal Crohn's disease
Non-occlusive mesenteric ischemia
Small intestinal infarction
Chronic liver disease
Hepatic sclerosis
Idiopathic acute pancreatitis
Alcohol-induced chronic pancreatitis
Idiopathic chronic pancreatitis
Obstructive chronic pancreatitis
Infected pancreatic necrosis
Cystadenoma of pancreas
Bacterial peritonitis
Parastomal hernia
Peristomal abscess
Atrophy of kidney
Granulomatous interstitial nephritis
Acquired Fanconi syndrome
Adult Fanconi syndrome
Lymphoma of kidney
Acute retention of urine
Detrusor and sphincter dyssynergia
Bifid scrotum
Neoplasm of scrotum
Epithelial tumor of ovary
Condyloma acuminata of vulva
Endometriosis of uterus
Hypothalamic amenorrhea
"Subfertility, Female"
Pre-eclampsia added to pre-existing hypertension
Transient hypertension of pregnancy
Diffuse goiter
Toxic diffuse goiter
Hyperthyroidism with Hashimoto disease
Toxic nodular goiter
T>3< thyrotoxicosis
Autonomous thyroid function
Thyrotoxicosis in pregnancy
Hyperthyroidism secondary to amiodarone
Congenital hypothyroidism without goiter
Congenital thyroid hypoplasia
Congenital atrophy of thyroid
Congenital hypothyroidism with ectopic thyroid
"Hypothyroidism, Autoimmune"
Compensated hypothyroidism
Compensated euthyroidism
"Hyperthyroxinemia, Familial Dysalbuminemic"
C-cell hyperplasia of thyroid
Familial dyshormonogenetic goiter
Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4
Thyroid Dyshormonogenesis 5
Thyrotoxicosis due to pituitary thyroid hormone resistance
Iodine deficiency syndrome
Endemic Cretinism
Multinodular goiter
Eye disorder due to diabetes mellitus
Complications of Diabetes Mellitus
Insulin treated type 2 diabetes mellitus
Transient neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Diabetes mellitus autosomal dominant type II (disorder)
"Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans"
Multiple synostoses syndrome 1
Hyperproinsulinemia
Woodhouse Sakati syndrome
Thiamine responsive megaloblastic anemia syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Diabetes-deafness syndrome maternally transmitted (disorder)
Brittle diabetes
Impaired glucose tolerance in pregnancy
Neuroglycopenia
Loss of hypoglycemic warning
Tumor-induced hypoglycemia
insulin resistance in diabetes
Insulin resistance - type A
Insulin resistance - type B
Post-surgical hypoparathyroidism
Idiopathic Hypoparathyroidism
Hypoparathyroidism - X-linked
Hypoparathyroidism - autosomal dominant
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Drug-induced hyperprolactinemia
Somatotroph hyperplasia
Panhypopituitarism - X-linked
Partial hypopituitarism
Idiopathic growth hormone deficiency
Idiopathic hypogonadotropic hypogonadism
Follicle stimulating hormone deficiency
LH - luteinizing hormone deficiency
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Familial central diabetes insipidus
Idiopathic hypopituitarism
Post-traumatic hypopituitarism
Hypophysitis
Autoimmune Hypophysitis
Hypothalamic hamartomas
Pituitary gland enlarged
ACTH-dependent Cushing's syndrome
Adrenal Cushing's syndrome
Cyclical Cushing's syndrome
Salt-losing congenital adrenal hyperplasia
Late onset congenital adrenal hyperplasia
3 beta-Hydroxysteroid dehydrogenase deficiency
Lipoid congenital adrenal hyperplasia
X-linked Adrenal Hypoplasia
Hyperreninemic hypoaldosteronism
"Mineralocorticoid Excess Syndrome, Apparent"
Adrenocortical hyperplasia
Macronodular adrenal hyperplasia
Micronodular adrenal hyperplasia
Adrenal mass
Ovarian dysgenesis
Idiopathic hirsutism
Absent testes
Deficiency of testosterone biosynthesis
Incomplete testicular feminization syndrome
Constitutional delay of growth and puberty
Precocious pubarche
Central Precocious Puberty
Idiopathic central precocious puberty
Premature adrenarche
Early menarche
Familial Testotoxicosis
Autoimmune endocrine disease
Juvenile Graves' disease
Carcinoid crisis
PITUITARY DWARFISM I
"Amyloid Polyneuropathy, British Type (disorder)"
Hereditary oculoleptomeningeal amyloid angiopathy
Hereditary cerebrovascular amyloidosis
Familial non-neuropathic amyloidosis
Danish type familial amyloid cardiomyopathy
Senile systemic amyloidosis
Neonatal hypocalcemia
Hungry bone syndrome
"Hypocalciuric hypercalcemia, familial, type 1"
Familial idiopathic hypercalciuria
Autosomal dominant hypophosphatemic rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets
"Vitamin D-Dependent Rickets, Type 2A"
Vascular calcification
Periarticular calcification
Acquired hypophosphatemia
"ALBINISM, OCULOCUTANEOUS, TYPE III"
"Ocular albinism, type I"
Aromatic amino acid decarboxylase deficiency
dopamine beta hydroxylase deficiency
Transcobalamin I Deficiency
Transcobalamin II deficiency
Deficiency of Cobalamin G
"Folate Malabsorption, Hereditary"
Gamma aminobutyric acid transaminase deficiency
Disorder of branched-chain amino acid metabolism
Adenosylcobalamin synthesis defect
"3-@METHYLGLUTACONIC ACIDURIA, TYPE I"
3-Methylglutaconic aciduria type 1
Deficiency of mevalonate kinase
Cytosolic acetoacetyl-CoA thiolase deficiency
3-Hydroxyisobutyric aciduria
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Trimethylaminuria
Disorder of galactose metabolism
Glycogen synthase deficiency
GLYCOGEN STORAGE DISEASE Ic
Glycogen storage disease type Id
Generalized glycogen storage disease of infants
"Glycogen storage disease due to acid maltase deficiency, late-onset"
Primary lactose intolerance
D-Glyceric aciduria
Fumarase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency
Ubiquinone dehydrogenase deficiency
ATP synthase deficiency
Depletion of mitochondrial DNA
Deficiency of butyryl-CoA dehydrogenase
Pearson's marrow-pancreas syndrome
Renal carnitine transport defect
Carnitine palmitoyl transferase 2 deficiency
Carnitine-Acylcarnitine Translocase Deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Malonic aciduria
Inosine Triphosphatase Deficiency
Thiopurine S methyltranferase deficiency
Dihydropyrimidinase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
"Hunter's syndrome, severe form"
"Hunter's syndrome, mild form"
Disorder of glycoprotein metabolism
Sialuria
Coproporphyria
Homozygous acute intermittent porphyria
Harderoporphyria
Homozygous variegate porphyria
Uroporphyrinogen decarboxylase deficiency
Deficiency of acetyl-CoA acyltransferase (disorder)
Bifunctional peroxisomal enzyme deficiency
Glutaric Aciduria III
Primary hypercholesterolemia
Polygenic hypercholesterolemia
Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - heterozygous
Cholesteryl Ester Transfer Protein Deficiency
Secondary hypercholesterolemia
Primary hypertriglyceridemia
Secondary hypertriglyceridemia
Primary combined hyperlipidemia
Hypolipidemia
Fish-Eye Disease
Apolipoprotein A-I deficiency
Sitosterolemia
Android obesity
Generalized obesity
Hypervitaminosis
Organ dysfunction syndrome
Postoperative septic shock
Sepsis-associated organ dysfunction
Impaired oxygen delivery
Increased oxygen demand
Tuberculid
Complement component 5 deficiency
Guttate psoriasis
Generalized pustular psoriasis
Keratosis pilaris decalvans
Dermatographic urticaria
Familial cold urticaria
Wooly hair
"Milia, Multiple Eruptive"
Livedoid vasculitis
Senile angioma
Capillary Leak Syndrome
Nodular Elastoidosis
Wells syndrome
Epidermolytic palmoplantar keratoderma of Vorner
Naegeli syndrome
Woolly hair nevus
Skin Mastocytoma
Contracture of joint of foot
Traumatic synovitis
Primary systemic vasculitis
Cutaneous polyarteritis nodosa
Lupus vasculitis
Hypocomplementemic urticarial vasculitis
Essential mixed cryoglobulinemia
Benign congenital hypotonia
Chondrolysis of articular cartilage
Chondrodysplasia
Thoracic discitis
Infantile gastroenteritis
Viral gastroenteritis due to Rotavirus
Helicobacter-associated gastritis
Enterotoxigenic Escherichia coli gastrointestinal tract infection
Enteropathogenic Escherichia coli gastrointestinal tract infection
Verotoxigenic Escherichia coli gastrointestinal tract infection
Clostridium difficile infection
"Enterocolitis, Neutropenic"
Intestinal microsporidiosis
MRSA - Methicillin resistant Staphylococcus aureus infection
Disseminated mycobacteriosis
Septicemic melioidosis
Pulmonary melioidosis
Borderline tuberculoid leprosy
Borderline lepromatous leprosy
Leprosy reversal reaction
Type 2 lepra reaction
Erythema nodosum leprosum
Lockjaw
Generalized tetanus
Disseminated nocardiosis
Lemierre Syndrome
Pontiac Fever
Streptococcal toxic shock syndrome
Congenital Varicella Syndrome
African Burkitt's lymphoma
Human papilloma virus infection
Facial wart
Gonococcal arthritis dermatitis syndrome
Neonatal chlamydial conjunctivitis
Anal warts
Perianal warts
Penile warts
Asymptomatic human immunodeficiency virus infection
Acute HIV infection
HIV Wasting Syndrome
Neuropathy due to human immunodeficiency virus
Typhus group rickettsial disease
Human Ehrlichiosis
Acute Chagas' disease
Chronic Chagas' disease
Herpetosoma Infection
Systemic aspergillosis
Chronic Necrotizing Pulmonary Aspergillosis
Candida infection of genital region
Central nervous system candidiasis
Chronic disseminated candidiasis
Systemic cryptococcosis
Histoplasmosis disseminated
Disseminated phaeohyphomycosis
Cutaneous mucormycosis
Hepatosplenic schistosomiasis
Schistosomal splenomegaly
Onchodermatitis
Onchocercal depigmentation
Sowda
Exercise anaphylaxis
Cerebellar decompression injury
Blurred vision
See-Saw Nystagmus
Anterior lenticonus
Posterior lenticonus
Vitreoretinal degeneration
Choroidal sclerosis
Temporal pallor of optic disc
Absence of pain sensation
White forelock
Depressed mood
Flashing
Schistocytosis
Bilirubin measurement
Complete right bundle branch block
Ventricular Arrhythmia by ECG Finding
"Ventricular tachycardia, polymorphic"
Microprolactinoma
Macroprolactinoma
Malignant mixed salivary gland tumor
Carcinoma ex pleomorphic adenoma
Oligodendroblastoma
Chronic lymphoproliferative disease NOS
Spinal Cord Myelodysplasia
Hypoplasia of corpus callosum
Lateral meningocele
Sacral agenesis
Congenital epiblepharon
Alacrima
Atresia of nasolacrimal duct
Coloboma of lens
Congenital posterior polar cataract
"Cataract, congenital, cerulean type 1"
Congenital membranous cataract
Cornea plana
Congenital keratoglobus
Congenital corneal opacity
Hypoplasia of iris
Persistent pupillary membranes
Aniridia type 1
Aniridia type 2
Polycoria
Congenital retinal fold
Irido-corneo-trabecular dysgenesis (disorder)
Congenitally corrected transposition of the great arteries
Double inlet left ventricle
Patent Ductus Venosus
Isomerism of atrial appendages
Divided left atrium
Left atrial dilatation
Ostium secundum atrial septal defect
Atrial Septal Defect Sinus Venosus
Partial atrioventricular canal
Congenital atresia of mitral valve
Cleft leaflet of mitral valve
Complete atrioventricular septal defect
Tetralogy of Fallot with pulmonary atresia
Right ventricular dilatation
Left ventricular abnormality
Left ventricular hypoplasia
Left ventricular dilatation
Left ventricular outflow tract obstruction
Multiple ventricular septal defects
Perimembranous ventricular septal defect
Ventricular septal hypertrophy
Right hypoplastic heart syndrome
Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Atresia With Ventricular Septal Defect
Bicuspid pulmonary valve
Unicuspid aortic valve
Quadricuspid aortic valve
Peripheral pulmonary artery stenosis
Ascending aorta dilatation
Congenital aneurysm of ascending aorta
Aorta to right ventricle tunnel
Cervical aortic arch
Interrupted aortic arch between left subclavian and left common carotid artery
Totally absent pericardium
Congenital constriction of pylorus
Congenital dysmotility of small intestine
Congenital atresia of large intestine
Low anorectal malformation
Short segment Hirschsprung's disease
Total intestinal aganglionosis
Neuronal intestinal dysplasia
Hyperganglionosis
Abnormal liver lobulation
Liver hyperplasia
Hypoplasia of vagina
Cyst of hydatid of Morgagni
Congenital phimosis
Radial polydactyly
Hypoplasia of lower limb
Congenital hypoplasia of femur
Gorlin Chaudhry Moss syndrome
Congenital kyphoscoliosis
Hypoplasia of spine
Accessory rib
Neonatal hyperparathyroidism
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3"
Hereditary clubbing
Cutis marmorata telangiectatica congenita
"Woolly hair, congenital"
Parotid Gland Carcinoma
Neoplasm of minor salivary gland
Neoplasm of middle ear
Neoplasm of small intestine
Juvenile polyposis syndrome
Anal skin tag
Malignant neoplasm of liver
Intrahepatic Cholangiocarcinoma
Sarcoma of liver
Angiosarcoma of liver
Neoplasm of ampulla of Vater
Squamous cell carcinoma of trachea
Large cell carcinoma of lung
Giant cell carcinoma of lung
Epithelioid hemangioendothelioma of lung
Benign neoplasm of lung
Adenoma of lung
Malignant mesothelioma
Multiple self-healing epithelioma of Ferguson-Smith
Solitary keratoacanthoma
Irritated basal cell papilloma
Neoplasm of skin with adnexal differentiation
Pilar tumor
Milium Cyst
Multiple fibrofolliculomas
Fibrofolliculoma
Fibroepithelioma of Pinkus
Adenoid cystic eccrine carcinoma
Syringocystadenoma
Eccrine mixed tumor of skin
Eccrine epithelioma
Acral Lentiginous Malignant Melanoma
Stage 0 Skin Melanoma
Tumor of dermis
Fibrous papule of face
Atypical fibroxanthoma of skin
Verruciform xanthoma of skin
Neuromuscular hamartoma
Cutaneous neurofibroma
Cutaneous leiomyoma
Cutaneous Leiomyosarcoma
Blue rubber bleb nevus syndrome
Tufted angioma of skin
Skin Angiosarcoma
Skin Lymphangiosarcoma
Nevus spilus
Follicular atrophoderma and basal cell epitheliomata
Malignant Mesothelioma of Peritoneum
Malignant mesothelioma of pericardium
Malignant Lipomatous Neoplasm
"Breast Cancer, Familial"
Malignant phyllodes tumor of breast
Benign neoplasm of breast
Juvenile fibroadenoma of breast
Malignant epithelial tumor of ovary
Endometrioid carcinoma ovary
Undifferentiated carcinoma of ovary
Benign epithelial tumor of ovary
Ovarian Cystadenoma
Serous cystadenoma of ovary
Mucinous cystadenoma of ovary
Ovarian gynandroblastoma
Malignant Ovarian Germ Cell Neoplasm
Immature Ovarian Teratoma
Ovarian Embryonal Carcinoma
Dysgerminoma of ovary
Benign teratoma of ovary
Endodermal sinus tumor of ovary
Carcinoma in situ of endometrium
Intravenous leiomyomatosis
Cervical Adenosquamous Carcinoma
Cervical Adenocarcinoma In Situ
Vaginal intraepithelial neoplasia
Vulval intraepithelial neoplasia
Cystadenocarcinoma of kidney
Sarcoma of kidney
Cortical adenoma of kidney
"Oncocytoma, renal"
Ureteric polyp
Pituitary carcinoma
Growth Hormone-Secreting Pituitary Adenoma
Thyrotroph adenoma
Gonadotroph adenoma
Pituitary macroadenoma
Optic Nerve Glioma
Meningioma of optic nerve sheath
Adenoid cystic carcinoma of lacrimal gland
Carcinoma ex pleomorphic adenoma of lacrimal gland
Pleomorphic adenoma of lacrimal gland
Squamous cell carcinoma of conjunctiva
Malignant melanoma of conjunctiva
Nevus of conjunctiva
Malignant melanoma of iris
Malignant melanoma of ciliary body
Malignant melanoma of choroid
Hemangioma of choroid
Nevus of choroid
Retinoma
Mixed follicular and papillary thyroid carcinoma
Malignant neoplasm of adrenal cortex
Ectopic parathyroid adenoma
Parathyroid hormone-related peptide-secreting tumor
Benign neuroendocrine tumor
Chronic eosinophilic leukemia
Multiple malignancy
Carcinoma of base of tongue
Malignant neoplasm of cardioesophageal junction of stomach
Intestinal Cancer
Malignant neoplasm of large intestine
Malignant neoplasm of pancreas
Malignant tumor of exocrine pancreas
Malignant melanoma of breast
Malignant neoplasm of cerebrum
Disseminated Malignant Neoplasm
Secondary malignant neoplasm of rectum
Secondary malignant neoplasm of pancreas
Secondary malignant neoplasm of spleen
Secondary malignant neoplasm of bone marrow
Secondary malignant neoplasm of peritoneum
Carcinomatosis of peritoneal cavity
Secondary malignant neoplasm of omentum
Secondary malignant neoplasm of female breast
Secondary malignant neoplasm of prostate
Secondary malignant neoplasm of spinal cord
Metastatic Malignant Neoplasm to the Thyroid
Malignant neoplasm of other and unspecified sites
Carcinoma in situ of mouth
Dysplasia of anus
Carcinoma in situ of fallopian tube
Penile intraepithelial neoplasia
Benign neoplasm of oral cavity
Benign tumor of salivary gland
Polyp of duodenum
Benign neoplasm of large intestine
Benign tumor of pancreas
Skin Papilloma
Cervix adenomatous polyp
Benign neoplasm of central nervous system
Spinal Meningioma
Perforation of colon
Hemorrhage into ovary
"Epilepsy, Akinetic"
Congenital malformation syndromes associated with short stature
Pelvic mass
Asthma attack
Lactic acidemia
Spinal arteriovenous malformation
"Early syphilis, unspecified"
Central Nervous System Viral Diseases
Hemophilus influenza infection
Malignant Central Nervous System Neoplasm
Benign neoplasm of meninges
Other hypoparathyroidism
Other hyperaldosteronism
Other disorders of branched-chain amino-acid metabolism
Other sphingolipidosis
Other restrictive cardiomyopathy
Other cardiomyopathies
Other specified cardiac arrhythmias
Acute bronchitis due to respiratory syncytial virus
Group B streptococcal pneumonia
Disorders of both mitral and tricuspid valves
"Aplastic anemia, idiopathic"
Chronic superficial gastritis
Irritable bowel syndrome with diarrhea
"Pre-existing diabetes mellitus, non-insulin-dependent"
Other specified diabetes mellitus with unspecified complications
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
Imbalance of constituents of food intake
Chronic anal fissure
Dementia in Parkinson's disease
Delirium co-occurrent with dementia
"Mental and behavioral disorders due to use of cocaine, unspecified mental and behavioral disorder"
Acute transient psychotic disorder
Nonorganic psychosis
Manic episode
"Depressive episode, unspecified"
Recurrent depressive disorder
Phobic anxiety disorder
Behavioral syndrome associated with physiological disturbance and physical factors
Nonorganic Insomnia
Non-fluent aphasia
"Apraxia, Verbal"
Paranoid delusion
Pangastrointestinal system dysfunction
Gram-positive septic shock
Ferrochelatase deficiency
Soiling
Mass of thyroid gland
Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 2
Wernicke-Korsakoff Syndrome
Congenital goiter
Transient neonatal hypothyroidism
Transient hypothyroxinemia
Fetal Hypoxia
Photosensitivity of skin
Amelanotic Skin Melanoma
Isolated aortic stenosis
Solitary leiomyoma
Gastric Carcinoid Tumor
Early gastric cancer
Gastric lymphoma
Lymphoma of intestine
Carcinoma of anal margin
Carcinoid tumor of intestine
Malignant melanoma of anus
Malignant melanoma of rectum
Astrocytoma of spinal cord
Brain Glioblastoma
Vaginal intraepithelial neoplasia grade 1
Vaginal intraepithelial neoplasia grade 2
Gestational choriocarcinoma
Vulval intraepithelial neoplasia grade 3
Lipoma of breast
Squamous cell carcinoma of tongue
Pleomorphic adenoma of parotid gland
Complex Endometrial Hyperplasia
Atypical Endometrial Hyperplasia
Trigeminal schwannoma
Short stature
Intracranial Meningioma
Medulloblastoma of cerebellum
Pilocytic astrocytoma of cerebellum
Hemangiopericytoma of meninges
Primary Melanocytic Lesion of Meninges
Richter's syndrome
Splenic Marginal Zone B-Cell Lymphoma
Hairy cell leukemia variant
Pre B-cell acute lymphoblastic leukemia
Common acute lymphoblastic leukemia
Juvenile Myelomonocytic Leukemia
Malignant lymphoma of testis
Pulmonary lymphangioleiomyomatosis
Congenital disorder of glycosylation type 1A
Trichoepithelioma
Glial tumor of brain (disorder)
Sarcoma of breast
Sertoli cell tumor of testis
Endometrioid carcinoma of prostate
Hypergranular promyelocytic leukemia
Acute bilineal leukemia
Corneal Scar
Abnormal hemoglobin finding
Sialic storage disease
Ischemic myocardial dysfunction
Ischemic cardiomyopathy
"Torticollis, Psychogenic"
Arrhythmogenic Right Ventricular Dysplasia
Organophosphorus Poisoning
Verrucous epidermal nevus
Prediabetes syndrome
Erythrocyte Mean Corpuscular Hemoglobin Test
Creatinine clearance measurement
Dehydroepiandrosterone Assay
Dihydrotestosterone Assay
Ferritin measurement
Magnesium measurement
Myoglobin measurement
Progesterone measurement
Selenium measurement
Vitamin A measurement
Thrombomodulin Assay
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
"Human T-cell lymphotrophic virus, type I [HTLV-I]"
"Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site"
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Hantavirus infection in conditions classified elsewhere and of unspecified site
Malignant neoplasm of vulva
Hemiplegia/hemiparesis
Acute endocarditis
Chronic left-sided ulcerative colitis
Peritoneal adhesions (postoperative) (postinfection)
Urethral intrinsic sphincter deficiency
Congenital Ureteropelvic Junction Obstruction
Congenital osteodystrophy
Continuous leakage of urine
Skin callus
Bell Palsy
"Hypoaldosteronism, Hyporeninemic"
"Anxiety States, Neurotic"
Avitaminosis
Amaurosis
Cardiac Death
Dengue Shock Syndrome
Congestive Ophthalmopathy
New Variant Creutzfeldt-Jakob Disease
fMRI
"Diagnosis, Psychiatric"
Premenstrual Tension
Malignant neoplasm of prostate
Gronblad-Strandberg Syndrome
Purpura Hemorrhagica
Nicotine Use Disorder
Granulomatous Slack Skin
"Hibernation, Myocardial"
Gingival Overgrowth
Branchio-Oculo-Facial Syndrome
Skull Base Neoplasms
"Epilepsy, Rolandic"
Hematopoietic Neoplasms
Hematologic Neoplasms
Endotoxemia
Pouchitis
Chromosome Breakage
Craniofacial Abnormalities
"Pancreatitis, Alcoholic"
"Teeth, Endodontically-Treated"
Clinical Capillary Leak Syndrome
Viral Load result
Tietz syndrome
Gouty nephropathy
Post-cardiac injury syndrome
Lhermitte-Duclos disease
Diffuse inflammation
Plasma cell inflammation
Polycythemia due to excess erythopoetin production
Abnormality of red blood cells
Hemorrhagic enteritis
idiopathic epilepsy
Familial Epilepsies
"Carcinoid tumor, malignant"
Pain Disorder
Atrophy of liver
Bilateral cleft lip
Unilateral cleft lip
Leukoplakia of larynx
Cardiac sarcoidosis
"Neurogenic Urinary Bladder, Uninhibited"
Akathisia
Corneal erosion
Pulmonary Cystic Fibrosis
Fibrotic lymphadenopathy
Influenza-like symptoms
Gastric irritation
Lipiduria
Necrosis of placenta
Verbal repetition
Abnormal rapid eye movement sleep
Salivary Gland Infection
Undifferentiated schizophrenia
Arachnophobia
despondency
Diffuse malignant mesothelioma
Acrodermatitis continua of Hallopeau
Coup de sabre scleroderma
Necrobiosis Lipoidica Diabeticorum
Ventricular aneurysm
Anomalous atrioventricular excitation
Roberts-SC phocomelia syndrome
Epiphyseal dysplasia
Congenital flat foot
Common atrium
Congenital diverticulum of pharynx
Asymptomatic periapical periodontitis
Hereditary hemochromatosis
Calcium deficiency
Nephrolithiasis
Cauda Equina Syndrome
"Hemiplegia, Infantile"
Hereditary peripheral neuropathy
Nuclear cataract
Severe combined immunodeficiency due to adenosine deaminase deficiency
Acquired hypofibrinogenemia
Toxic effect of carbon tetrachloride
Oropharyngeal tularemia
Angiostrongyliasis
Infection by Wuchereria bancrofti
Infestation by Demodex
Swallowing problem
Dysesthesia
Abnormal involuntary movement
Atopy
Cystic medial necrosis of aorta
Poikiloderma
Dermatofibrosarcoma Protuberans
Nasal Type Extranodal NK/T-Cell Lymphoma
High density lipoprotein measurement
Carcinosarcoma of ovary
Chronic lymphocytic meningitis
Bacterial ventriculitis
Brainstem encephalitis
Rasmussen Syndrome
Neurosarcoidosis
Vacuolar myelopathy
"Cerebellar Ataxia, Early Onset"
Harding ataxia
"Cerebellar Ataxia, Late Onset"
Progressive cerebellar ataxia
Paraneoplastic Cerebellar Degeneration
"Muscular Atrophy, Spinal, Type II"
Childhood Progressive Bulbar Palsy
Distal Spinal Muscular Atrophy
Oculopharyngeal Spinal Muscular Atrophy
Bulbospinal Neuronopathy
Amyotrophic Lateral Sclerosis With Dementia
Pure hereditary spastic paraplegia
Complicated hereditary spastic paraplegia
Troyer syndrome
"Vascular Dementia, Acute Onset"
Subcortical Vascular Dementia
Vascular parkinsonism
Corticobasal degeneration
Multiple System Atrophy
"Huntington Disease, Late Onset"
Chorea Acanthocytosis Syndrome
Pallidal degeneration
Pallidoluysian degeneration
Benign Hereditary Chorea
"Dystonia, Paroxysmal"
Fahr's syndrome (disorder)
AICARDI-GOUTIERES SYNDROME
Dystonia Disorders
Idiopathic familial dystonia
Idiopathic non-familial dystonia
Isolated cervical dystonia
Isolated blepharospasm
"Dystonia, Diurnal"
Familial Tremor
Opsoclonus-Myoclonus Syndrome
Hashimoto's encephalitis
Sepsis-Associated Encephalopathy
"Multiple Sclerosis, Acute Relapsing"
"Multiple Sclerosis, Chronic Progressive"
"Frontal Epilepsy, Benign, Childhood"
"Epilepsy, Benign Psychomotor, Childhood"
Childhood Benign Occipital Epilepsy
Panayiotopoulos Syndrome
Amygdalo-Hippocampal Epilepsy
Rhinencephalic Epilepsy
"Epilepsy, Lateral Temporal"
"Epilepsy, Supplementary Motor"
"Epilepsy, Cingulate"
"Epilepsy, Opercular"
Occipital Lobe Epilepsy
"Benign Neonatal Epilepsy, Nonfamilial"
"Early Childhood Epilepsy, Myoclonic"
Epilepsy with grand mal seizures on awakening (disorder)
Cryptogenic Infantile Spasms
Symptomatic Infantile Spasms
Myoclonic Astatic Epilepsy
Myoclonic Absence Epilepsy
Early infantile epileptic encephalopathy with suppression bursts
Menstrual epilepsy
Nocturnal epilepsy
"Reflex Epilepsy, Photosensitive"
Eating epilepsy
Immersion Related Epilepsy
Complex Partial Status Epilepticus
Headache Disorders
Episodic tension-type headache
Chronic tension-type headache
Episodic Cluster Headache
Chronic post-traumatic headache
Headache associated with sexual activity
Hangover from alcohol
Transient Insomnia
Initial insomnia
Middle insomnia
Delayed Sleep Phase Syndrome
Sleep-Related Painful Erections
Congenital anosmia
"Trigeminal Neuralgia, Idiopathic"
Secondary Trigeminal Neuralgia
Miller Fisher Syndrome
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
"Charcot-Marie-Tooth disease, X-linked, 1"
Hereditary liability to pressure palsies
Congenital hypomyelinating neuropathy
"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating"
Diabetic Asymmetric Polyneuropathy
Multifocal motor neuropathy
"Polyneuropathy, Critical Illness"
Suprascapular nerve compression
Axonal sensorimotor neuropathy
Pure Autonomic Failure
Segmental Autonomic Dysfunction
Familial infantile myasthenia
Pseudomyopathic myasthenia
Slow channel syndrome
Cholinergic crisis
Anterior Cerebral Circulation Infarction
Systemic lupus erythematosus encephalitis
Spinal cord stroke
Hernia of cerebellar tonsil into foramen magnum
Multicystic Encephalomalacia
Quadriplegic cerebral palsy
"Cerebral Palsy, Dystonic-Rigid"
Congenital non-progressive ataxia
Ataxic cerebral palsy
Dysequilibrium syndrome
"Cerebral Palsy, Atonic"
"Coma, Post-Head Injury"
Acute alcoholic intoxication
Psychogenic polydipsia
Stenosis of external auditory canal
Recurrent acute otitis media
"Cholesteatoma, Congenital"
Tympanosclerosis
Postauricular fistula
Migrainous vertigo
Mondini defect
Dilatation of the vestibular aqueduct
Tinnitus of Vascular Origin
Dominant sensorineural hearing loss
Recessive sensorineural hearing loss
Hearing loss associated with syndrome
Pharyngocutaneous fistula
Chronic adenoiditis
Chronic adenotonsillitis
Congenital laryngeal adductor palsy
Bowing of vocal cord
Laryngeal papillomatosis
Distal intestinal obstruction syndrome
Acute cardiac pulmonary edema
Abdominal aortic atherosclerosis
Trousseau's syndrome
Histiocytic Necrotizing Lymphadenitis
Lymphatic Abnormalities
Lipedema
Glucose phosphate isomerase deficiency
Triose phosphate isomerase deficiency
Deficiency of hexokinase (disorder)
Deficiency of adenylate kinase
Blood group deletion syndrome
T-cell lymphocytosis
Specific granule deficiency
Myeloperoxidase Deficiency
Histiocytic syndrome
Congenital von Willebrand's disease
Alpha-2-antiplasmin deficiency
Hypoplasminogenemia
Thrombophilia
Protein C Deficiency
Heparin cofactor II deficiency (disorder)
Inherited platelet disorder
Thromboxane synthetase deficiency
Acquired platelet disorder
Amegakaryocytic thrombocytopenia
Epstein syndrome (disorder)
Montreal platelet syndrome
Posttransfusion purpura
Immune thrombocytopenic purpura
Ocular sarcoidosis
Sarcoid myopathy
Primary immune deficiency disorder
"Hyper-IgM Immunodeficiency Syndrome, Type 1"
Hyperimmunoglobulinemia D
Immunoglobulin G2 deficiency
Immunoglobulin G3 deficiency
Immunoglobulin G4 deficiency
Immunoglobulin A2 deficiency
Secretory Component Deficiency
Anti-polysaccharide antibody deficiency
Leukocyte adhesion deficiency type 1
"Congenital disorder of glycosylation, type 2C"
Gluthathione synthetase deficiency
Gluthathione peroxidase deficiency
Properdin deficiency disease
Complement Factor D Deficiency
Hereditary C1 esterase inhibitor deficiency - deficient factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Complement Factor H Deficiency
Carboxypeptidase N Deficiency
"Immunodeficiency syndrome, variable"
Nijmegen Breakage Syndrome
Hypopigmentation-immunodeficiency disease
Secondary immune deficiency disorder
Developmental absence of tooth
Supernumerary cusp
Talon cusp
Amelogenesis imperfecta local hypoplastic form
"Amelogenesis Imperfecta, Type IB"
Amelogenesis Imperfecta hypomaturation type
"Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism"
"Amelogenesis Imperfecta, Type III"
Dentinogenesis imperfecta - Shield's type III (disorder)
"Dentin dysplasia, type 1"
"Dentin dyspalsia, Shields type 2"
Reversible pulpitis
Irreversible pulpitis
Hereditary gingival fibromatosis
Early onset periodontitis
Subgingival plaque
Supragingival dental plaque
Dysplastic oral leukoplakia
Inflammatory fibrous hyperplasia of mouth
"Granulomatosis, Orofacial"
Class I malocclusion
Class III malocclusion
Anterior Diastema of Teeth
Mandibular deviation
Glandular odontogenic cyst
Mandibular condyle aplasia
Hypoplasia of mandibular condyle
Commissural lip pit
Stress ulcer of stomach
"Colitis, Microscopic"
"Colitis, Lymphocytic"
Neutropenic colitis
Simple diverticular disease of large intestine
Ileal Stenosis
Hollow visceral neuropathy
Postoperative ileus
Acute hepatitis C
Vascular disorder of liver
Autoimmune liver disease
Cirrhosis - non-alcoholic
Non-alcoholic Fatty Liver Disease
Synthetic defect of bile acids
Secondary sclerosing cholangitis
Obstruction of biliary tree
Cyst of biliary tract
Fungal peritonitis
Unilateral inguinal hernia NOS
Constipation - functional
Chronic constipation
Chronic diarrhea
proliferative nephritis unspecified
Emphysematous pyelonephritis
Steroid-sensitive nephrotic syndrome
Steroid-resistant nephrotic syndrome
Steroid-dependent nephrotic syndrome
Finnish congenital nephrotic syndrome
Endocapillary glomerulonephritis
Acute post-streptococcal glomerulonephritis
Idiopathic crescentic glomerulonephritis
Chronic mesangial proliferative glomerulonephritis
IgM nephropathy
Thin basement membrane disease
"Renal Failure, Progressive, with Hypertension"
Fechtner syndrome (disorder)
Chronic Kidney Insufficiency
Medullary nephrocalcinosis
Low renal threshold for glucose
Microalbuminuric diabetic nephropathy
Proteinuric diabetic nephropathy
Henoch-Schönlein nephritis
Anti-Glomerular Basement Membrane Disease
Salcedo syndrome
Renal dysplasia and retinal aplasia (disorder)
"Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness"
Ochoa syndrome
Dialysis disequilibrium syndrome
Adynamic bone disease
Chronic rejection of renal transplant
Transplant glomerulopathy
Primary vesicoureteric reflux
Chemical cystitis
Hypotonic bladder disorder
Bladder outflow obstruction
Urinary incontinence of non-organic origin
Retrograde ejaculation
Non-bacterial prostatitis
Male accessory gland infection
Uric acid urolithiasis
X-linked recessive nephrolithiasis with renal failure
Acquired phimosis
Secondary male infertility
Primary spermatogenic failure
Oligosynaptic Infertility
"Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa"
Congenital obstructive azoospermia
Congenital bilateral aplasia of vas deferens
Acquired obstructive azoospermia
Asthenozoospermia
Teratozoospermia
Globozoospermia
Acquired atrophy of ovary
Chronic pelvic pain of female
Infective vaginitis
Hypertrophy of labia
Incipient ovarian failure
Female infertility associated with anovulation
Vanishing twin syndrome
Nuchal Cord
Granulomatous Mastitis
Gigantism and acromegaly
Adrenal cortical hypofunction
Testicular dysfunction
Sucrose intolerance
Streptococcal impetigo
Seed corn
Pseudofolliculitis
Suntan
Actinic prurigo
Chronic prurigo
Eosinophilic pustular folliculitis
Chronic small plaque psoriasis
Psoriasis of nail
Scalp psoriasis
Follicular ichthyosis
Disseminated superficial porokeratosis
Acanthosis palmaris
Post-inflammatory hyperpigmentation in lichen planus
Lichen planus pemphigoides
Lichen planus of nail
Erosive oral lichen planus
Genital lichen planus
Aquagenic pruritus
Laugier-Hunziker syndrome
Pterygium of nail
Non-scarring alopecia
Diffuse alopecia
Loose Anagen Hair Syndrome
Comedonal acne
Nodulocystic acne
Sebaceous hyperplasia
Ocular Rosacea
Lipodermatosclerosis
Hereditary benign telangiectasia (disorder)
Morbilliform Drug Reaction
"Cutis laxa, acquired type"
Poikiloderma of Kindler
Follicular atrophoderma
Superficial fibromatosis
"Acrogeria, gottron type"
Lethal tight skin contracture syndrome (disorder)
Wiedemann-Rautenstrauch syndrome
Wrinkly skin syndrome
Insulin lipoatrophy
Encephalocraniocutaneous lipomatosis
Autoimmune skin disease
Erythema multiforme-like lupus erythematosus
Genital lichen sclerosus
Amyopathic dermatomyositis
Linear IgA Bullous Dermatosis
Eosinophilic spongiosis
Cutaneous focal mucinosis
Vulvodynia
Eczematous drug eruption
"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive"
Rudiger syndrome 1
Basan syndrome
Hay-Wells syndrome
Hypodontia and nail dysgenesis
"Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy"
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Curly hair-ankyloblepharon-nail dysplasia syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Kohlschutter Tonz syndrome
Keratolytic winter erythema
Hereditary palmoplantar keratoderma
Keratoderma with scleroatrophy of the extremities
Symmetrical dyschromatosis of extremities
Dermatopathia pigmentosa reticularis
Syringocystadenoma Papilliferum
Carney Complex
Reticulate acropigmentation of Kitamura
Labial lentigo
Rhabdomyomatous mesenchymal hamartoma
Arthritis of hand
Arthritis of wrist
Ochronotic arthropathy
Discoid lateral meniscus
Anterior knee pain
Flexion contracture-shoulder
Flexion contracture - elbow
Flexion contracture - wrist
Contracture of joint of thumb
Flexion contracture of proximal interphalangeal joint
Flexion contracture of hip
Ankylosis of the elbow joint
Protrusio acetabuli
Pyogenic arthritis of hip
Rheumatic joint disease
Rheumatoid arthritis of ankle
Seropositive rheumatoid arthritis
Seronegative rheumatoid arthritis
Juvenile Chronic Polyarthritis
Juvenile ankylosing spondylitis
Juvenile spondyloarthropathy
Seronegative arthritis
Synovitis of knee
"Chronic Infantile Neurological, Cutaneous, and Articular Syndrome"
Rotator cuff tear arthropathy
Familial chondrocalcinosis
Osteoarthritis of ankle
Osteoarthritis of glenohumeral joint
Idiopathic osteoarthritis
Osteoarthritis of elbow
Osteoarthrosis of the carpometacarpal joint of the thumb
Osteoarthritis of distal interphalangeal joint
"Osteoarthritis, Knee"
Lupus Erythematosus
Bullous systemic lupus erythematosus
Neonatal Systemic lupus erythematosus
Primary antiphospholipid syndrome
Secondary antiphospholipid syndrome
Undifferentiated Connective Tissue Diseases
Overlap syndrome
Nodular fasciitis
Muscle damage
X-linked muscular dystrophy with abnormal dystrophin
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Fukuyama Type Congenital Muscular Dystrophy
Ullrich congenital muscular dystrophy 1
Eichsfeld type congenital muscular dystrophy
"Muscular Dystrophy, Emery-Dreifuss"
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
"Muscular Dystrophy, Scapulohumeral"
Proximal myopathy
X-linked centronuclear myopathy
"Myopathy, Centronuclear, Autosomal Recessive"
Tubular Aggregate Myopathy
Myopathy with Abnormal Lipid Metabolism
Congenital Myotonic Dystrophy
Traumatic rhabdomyolysis
Contracture of tendo achilles
Contracture of hamstring(s)
Defect of articular cartilage
Chronic multifocal osteomyelitis
Primary osteoporosis
Osteomalacia secondary to drug
Avascular Necrosis of Femur Head
Skeletal dysplasia
Hypochondroplasia (disorder)
Metachondromatosis
Osteodysplasia
Mesomelic dysplasia
Pseudoachondroplasia
Craniodiaphyseal dysplasia
Synovial Hypertrophy
Cervical Disc Degenerative Disorder
Intervertebral disk calcification
Prolapsed cervical intervertebral disc
Prolapsed thoracic intervertebral disc
Schmorl's nodes
Degenerative lumbar spinal stenosis
Spinal instability
Cervical spine instability
Atlantoaxial instability
Instability of atlantooccipital joint
Neuromuscular scoliosis
Adolescent idiopathic scoliosis
Deformity of bone
Acquired deformity of finger
Hereditary Connective Tissue Disorder
Prosthetic joint infection
Neonatal Death
Wide cranial sutures
Fetal acidosis
Idiopathic anaphylaxis
Birth length
Neurological observations
"Seizures, Somatosensory"
"Seizures, Auditory"
Olfactory seizure
Gustatory seizure
Vertiginous seizure
CNS symptom
"Apraxia, Gestural"
Primitive reflex
Visual symptoms
Intermittent divergent squint
Comitant heterophoria
Hypometric saccades
Hypermetric saccades
Staring
Upward slant of palpebral fissure
Downward slant of palpebral fissure
Short palpebral fissure
Telecanthus
Ptosis of eyebrow
Sunken eyes
Corneal stromal opacities
Corneal endotheliitis
Shallow anterior chamber of eye
Deep anterior chamber of eye
Heterochromia iridis
Atrophic iris
Iridodonesis
Ectropion uveae
Lens tremulous
Posterior Vitreous Detachment
Retinal flecking
Absent foveal reflex
Atrophic macular change
Scarred macula
Subretinal exudate
Cilioretinal artery (disorder)
Opticociliary vessels
Ear symptom
Throbbing Headache
Bilateral Headache
Cardiac pain
Sore nipple
Right Flank Pain
Pain in spine
"Low Back Pain, Mechanical"
"Low Back Pain, Posterior Compartment"
Growing pains
"Neuralgia, Perineal"
"Neuralgia, Iliohypogastric Nerve"
Neurogenic pain
Central post-stroke pain
Chest pain on breathing
After pains
Deep pain on intercourse
Thin skin
Cutaneous Fistula
Scaly skin
Scurfiness of scalp
Palmar pit
Maculopapular Lesion
Increased tendency to bruise
Overcurvature of nail
Brachyonychia
Splits in nails (finding)
Ridged nails
Thin nails
Distichiasis
Fine hair
Feeling suicidal (finding)
Verbal auditory hallucinations
"Hallucinations, Visual, Unformed"
"Hallucinations, Visual, Formed"
"Hallucinations, Hypnapompic"
"Hallucinations, Dissociative"
Inattention
Anxiety and fear
Social Anxiety
Motor retardation
Compulsive hoarding
Hyperactive behavior
Social disinhibition
Inappropriate laughter
Physical aggression
Hoarding
Biting self
Mask-like facies
Chapping of lips
Coarse features
Dysmorphic facies
Impaired exercise tolerance
Quality of sleep
Duration of sleep
Developmental delay (disorder)
Body Fat Distribution
Lean body mass
Small head
Asymmetrical skull
Broad skull
Orbital separation diminished
Single transverse palmar crease
Rigor - Temperature-associated observation
Periorbital swelling
Learning difficulties
Mobility poor
Gasping for breath
Sighing respiration
Irregular breathing
Sexual symptom
Premature development of the breasts
Breast size
Peau d'orange surface of breast
Absent nipple (finding)
Uterus absent (finding)
Secondary amenorrhea
amniotic fluid meconium stained
Genitourinary symptoms
Absent scrotum
Urinary symptoms
Urine looks dark
Large nose
Wide nose
Narrow nose
Bifid nasal tip
Broad nasal tip
Drooping nasal tip
Pinched nasal tip
Narrow nostrils
Large nostrils
Gingival cleft
Short frenulum of tongue
Gastrointestinal symptom
Swallowing symptoms
Urgent desire for stool
Absent kidney
"Torticollis, Intermittent"
Short thorax
Narrow thorax
Congenital hypoplasia of clavicle
Broad clavicle
Hooked clavicle
Short clavicle
Long clavicle
Pseudoarthrosis of clavicle
Absence of rib
Short ribs
Thin rib
Thick rib
Beading of ribs
Gap in ribs
Sacral dimple
Absence of hand
Large hand
Trident hand
Tapering fingers (finding)
Broad thumbs
Tibial torsion
Short leg
Telescoping of limb at hip
Dystonic posture
Spastic Quadriplegia
Motor symptoms
Ankle stiff
Facial Paresis
Shoulder girdle weakness
Pelvic girdle weakness
Distal muscle weakness
Involuntary Movements
Rapid Fatigue of Gait
Toe-walking gait
"Gait, Drop Foot"
Marche a Petit Pas
"Gait, Hysterical"
"Ataxia, Truncal"
Floppy Muscles
Muscle Tone Atonic
"Folic acid measurement, RBC"
MCH - low
Red cell distribution width determination
Elliptocytosis found
Finding of bite cells
Neutrophil abnormality
Increased blood monocyte number
Monocytopenia
Cerebrospinal fluid lymphocytosis
Leucine measurement
Methionine measurement
Finding of creatinine level
Serum creatinine low
Calcium level result
Measurement of liver enzyme
Human chorionic gonadotropin measurement
Triiodothyronine measurement
Serum lipids high (finding)
Serum HDL cholesterol measurement
Serum LDL cholesterol measurement
Serum transferrin measurement
Fasting blood glucose measurement
Iron level result
Vitamin measurement
FAI - Free androgen index measurement
Aortic valve calcification
Senile sclerosis of aortic cusp
"Dilatation of pulmonary artery, unspecified"
Right to left cardiovascular shunt (finding)
Diastolic blood pressure
Mean blood pressure
Sinus Node Dysfunction (disorder)
Supraventricular arrhythmia
Supraventricular Arrhythmia by ECG Finding
Bradycardia
P wave duration (observable entity)
QT interval feature (observable entity)
Electrocardiogram: P-R interval
QRS complex feature
Gastrointestinal sensation
EMG positive sharp waves
Anovulatory (finding)
Depth of anterior chamber of eye
Ocular axial length
Respiratory quotient
Bladder trabeculation
Susceptibility to tuberculosis
Malignant melanoma - category
Anaplastic Oligoastrocytoma
Choroid Plexus Carcinoma
Rhabdomyosarcoma with ganglionic differentiation
Anaplastic ganglioglioma
Clear Cell Meningioma
Atypical meningioma
Solitary neurofibroma
Cellular Schwannoma
Papillary craniopharyngioma
Adamantinous Craniopharyngioma
"Malignant lymphoma, stem cell type"
Frontal Encephalocele
Abnormality of neurogenesis
Aprosencephaly
Primary microcephaly
Secondary microcephaly
External hydrocephalus
Lobar Holoprosencephaly
Alobar Holoprosencephaly
Congenital malformation of corpus callosum
Partial agenesis of corpus callosum
Dysgenesis of corpus callosum
Atrophy of corpus callosum
Absence of septum pellucidum
Classical Lissencephaly
Cobblestone Lissencephaly
Nodular heterotopia
Laminar heterotopia
Cortical Dysplasia
Colpocephaly
Microdysgenesis
Hemimegalencephaly
Familial aplasia of the vermis
Gillespie syndrome
Cerebellar cortical dysplasia
Asymmetric crying face association
Sacral dysgenesis
Lumbosacral agenesis
Vein of Galen aneurysm
Anomalies of cerebrum
Synophrys
Absent eyebrow
Posteriorly rotated ear
Bilateral arterial duct
Laryngeal hypoplasia
Lobulated tongue
Hamartoma of tongue
Ectopic liver
Mullerian aplasia
Vaginal septum
Hypoplasia of scrotum
Bilateral Cryptorchidism
Unilateral Cryptorchidism
Webbed penis
Unilateral Renal Hypoplasia
Bilateral renal hypoplasia
Renal cysts and diabetes syndrome
Oligomeganephronic hypoplasia of kidney
Unilateral renal dysplasia
Bilateral renal dysplasia
Adult type polycystic kidney disease type 1
Nephronophthisis - medullary cystic disease
Multiple renal cysts
Congenital malformation syndromes involving limbs
Carpal synostosis
Brachymesophalangia
Thumb in palm deformity
Hitch-hiker thumb
Hypoplasia of thumb
Ulnar polydactyly of fingers
Congenital overgrowth of lower limb
"Lower Extremity Deformities, Congenital"
Split foot
"Simple syndactyly of toes, first web space"
Simple syndactyly of fingers - first web
Congenital malformation syndromes affecting facial appearance
Dysmorphic features
Defect of skull ossification
Cleft of hard palate
Cleft Soft Palate
Submucous cleft of hard palate
Midline facial cleft - Tessier cleft 0
Interfrontal craniofaciosynostosis
Sagittal craniosynostosis
Unicoronal craniosynostosis
Bicoronal craniosynostosis
Supernumerary lumbar vertebra
Lumbar hemivertebra
Thoracic hemivertebra
Defect of vertebral segmentation
Aplasia of muscle
Schneckenbecken dysplasia
Short rib dysplasia
"Short rib-polydactyly syndrome, Verma-Naumoff type"
"Short rib-polydactyly syndrome, Beemer type"
Boomerang dysplasia
"Dyssegmental dysplasia, Rolland-Desbuquois type"
Spondyloepimetaphyseal disorder
Namaqualand hip dysplasia
Progressive pseudorheumatoid dysplasia
Wolcott-Rallison syndrome
Opsismodysplasia
"Spondylometaphyseal dysplasia, 'corner fracture' type"
Spondyloenchondrodysplasia
Metaphyseal chondrodysplasia Spahr type
Metaphyseal anadysplasia
Brachyolmia Type 3
Brachyolmia
Langer Mesomelic Dysplasia Syndrome
Nievergelt syndrome
Trichorhinophalangeal dysplasia type I
CRANIOECTODERMAL DYSPLASIA 1
Bent bone dysplasia
Kyphomelic dysplasia
Stuve-Wiedemann dysplasia
Desbuquois syndrome
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Osteodysplastic primordial dwarfism
"Microcephalic Osteodysplastic Primordial Dwarfism, Type II"
Osteoporosis with pseudoglioma
Bruck syndrome
Singleton Merten syndrome
Geroderma osteodysplastica
Osteopetrosis - intermediate type
Dysosteosclerosis
Tricho-thiodystrophy disorder
Osteopathia striata cranial sclerosis
Lenz Majewski hyperostotic dwarfism
Van Buchem disease
Worth disease
Pseudochondroplasia
Dysplasia epiphysealis hemimelica
Osteoglophonic dwarfism
Infantile myofibromatosis
Winchester syndrome (disorder)
Mandibuloacral dysostosis
Familial expansile osteolysis
Autosomal dominant ichthyosis vulgaris
Erythrodermic lamellar ichthyosis
Ichthyosis Bullosa of Siemens
Ichthyosis hystrix of Curth-Macklin
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex with mottled pigmentation
"Epidermolysis bullosa simplex, Ogna type"
"Epidermolysis bullosa, pretibial"
"Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)"
Junctional epidermolysis bullosa mitis
"Xeroderma pigmentosum, variant form"
Erythrokeratoderma
Abnormal dermatoglyphic pattern
Inherited cutis laxa
"Cutis laxa, recessive, type I"
Uncombable hair syndrome
Hypoplasia of nipple
Congenital absence of breast with absent nipple
Neurofibromatosis type 5
Diffuse neurofibroma
Shagreen patch
Thalidomide embryopathy syndrome
Trisomy 12
Trisomy 11
"Chromosome 9, trisomy"
"Down Syndrome, Partial Trisomy 21"
"Trisomy 21, Meiotic Nondisjunction"
Chromosome 18p deletion syndrome
Deletion of long arm of chromosome 18
"46, XY female"
Klinefelter's syndrome - male with more than two X chromosomes
XX males
"46, XX true hermaphrodite"
Fragile X chromosome
Post-transplant neoplasia
Post-transplant lymphoproliferative disorder
Desmoplastic trichoepithelioma
Proliferative fasciitis
Malignant lymphoma of spleen
Varus angulation
Noise-induced temporary threshold shift
Myoclonic Encephalopathy
"Scotoma, Ring"
Dermatoglyphs - skin lines
Suicidal
Chest pressure
Back Pain without Radiation
Fatigue - symptom
Hormone measurement
"Visual acuity, no light perception"
Arteriolar hyalinosis
Cardiac embolism
Corneal epithelial loss
Microinvasive carcinoma
Multiple cysts
Neuropathy
Occult carcinoma
Periungual fibroma
Septal hypertrophy
Spastic
Nephrotic range proteinuria
Thickening of glomerular basement membrane
Carrier status
Urolithiasis
Neuropathy in association with hereditary ataxia
Severe combined immunodeficiency with low T- and B-cell numbers
Severe combined immunodeficiency with low or normal B-cell numbers
Major histocompatibility complex class II deficiency
Immunodeficiency following hereditary defective response to Epstein-Barr virus
Non-obstructive reflux-associated chronic pyelonephritis (disorder)
"Nephrotic syndrome, focal and segmental glomerular lesions"
Dietary selenium deficiency
Dietary zinc deficiency
Simple obesity
Erosive osteoarthrosis
"Conductive hearing loss, bilateral"
"Sensorineural hearing loss, bilateral"
"Paraplegia, Flaccid"
"Hypospadias, penoscrotal"
"Hypospadias, perineal"
"Hypospadias, balanic"
Osteomyelitis of vertebra
Mirror movements disorder
"Stuttering, Acquired"
Acquired Language Disorders
Transcortical sensory dysphasia
"Aphasia, Mixed"
Receptive aphasia (finding)
Semantic impairment
Deep dyslexia
Surface dyslexia
Motor speech disorder
"Dysarthria, Spastic"
"Dysarthria, Flaccid"
"Dysarthria, Mixed"
Extrapyramidal dysarthria
Pyramidal dysarthria
Oral Dyskinesia
"Apraxia, Oral"
Expressive language impairment
Expressive language delay
Receptive language delay
Word finding difficulty (disorder)
Delayed speech and language development
Developmental syntactic impairment
Specific language impairment
Semantic-Pragmatic Disorder
Serum urea measurement
Serum selenium measurement
FH: Depression
H/O: depression
Knight's move in thought
Small scrotum
Infant length
Left ventricular mass
Waist Circumference
Large adenoids
"Hydrops Fetalis, Non-Immune"
Immune Hydrops Fetalis
Chronic pulmonary insufficiency of prematurity
Perinatal hepatitis
Transient neonatal renal tubular acidosis
"Infant, Extremely Low Birth Weight"
Growth delay
Intrapartum fetal hypoxia
Congenital viral disease
Sepsis of the newborn
Neonatal meningitis
Neonatal rickets
Large fontanelle
Cerebral dysgenesis
Peritoneal dialysis-associated peritonitis
Simple Endometrial Hyperplasia
Peutz Jehgers polyp
Sleep Paralysis
Severe childhood autosomal recessive muscular dystrophy
Light chain myeloma
Cutaneous/peripheral T-cell lymphoma
Low grade B-cell lymphoma
High grade B-cell lymphoma
High grade T-cell lymphoma
Enteropathy-Associated T-Cell Lymphoma
Primary pulmonary hypoplasia
Blindness
Weyers acrofacial dysostosis
Muscle eye brain disease
Desmoplastic infantile astrocytoma
Xanthomatous Meningioma
Soft tissue mass
Acute monoblastic leukemia
Reactive thrombocytosis
Unicystic ameloblastoma
Juvenile ossifying fibroma
Plexiform ameloblastoma
Acanthomatous ameloblastoma
Desmoplastic ameloblastoma
Peripheral ameloblastoma
Mural unicystic ameloblastoma
Tooth absent
Bent bone dysplasia group
Chronic low back pain
Acute low back pain
Cervicogenic Headache
Total body pain syndrome
Complex Regional Pain Syndromes
Allodynia
"Pain, Splitting"
"Pain, Crushing"
Site-specific infective disorders of skin
Performance anxiety
Peripheral neuropathic pain
Abdominal stoma
Posterior Circulation Transient Ischemic Attack
"Subarachnoid Hemorrhage, Spontaneous"
Progressive post hemorrhagic ventricular dilatation
Vasogenic Cerebral Edema
Cytotoxic Cerebral Edema
High altitude cerebral edema
Anemia of renal disease
Homozygous alpha thalassemia
Alpha trait thalassemia
Beta thalassemia intermedia
Gamma thalassemia
Hemoglobin E/beta thalassemia disease
Chronic non-spherocytic hemolytic anemia
Hemolytic anemia due to hexokinase deficiency
Hemophilia A carrier
Hereditary factor VIII deficiency disease with inhibitor
Hypodysfibrinogenemia
X-linked agammaglobulinemia with growth hormone deficiency
Autosomal agammaglobulinemia with absent B-cells
WHIM syndrome
Ischemic hepatitis
Physiological hyperbilirubinemia (disorder)
Fecal peritonitis
Protracted diarrhea
Renal hypouricemia
Cryoglobulinemic glomerulonephritis
Aluminum intoxication
Frank hematuria
Hemorrhagic cyst of ovary
Lactational amenorrhea
Hypoalphalipoproteinemias
Vibratory angioedema
Localized lipoatrophy
Inflammatory linear verrucous epidermal nevus
Acantholytic Dyskeratotic Epidermal Nevus
Eccrine nevus
Porokeratotic eccrine ostial and dermal duct nevus
Hair follicle nevus
Nevus elasticus
Michelin tire baby syndrome
Radiolabeled somatostatin analog study
Keratinization of ocular surface
Color of iris
Optic disc neovascularization
Peripheral retinal neovascularization
Generalized Headache
Labor Pain
Inappropriate sexual behavior
Fine corneal edema
Corneal stromal edema
"Diarrhea and vomiting, symptom"
"Myokymia, Generalized"
Mean corpuscular hemoglobin concentration determination
Hemoglobin A2 measurement
Serum ceruloplasmin measurement
Sulfate measurement
Cerebellopontine Angle Tumor
Chromophobe tumor
Follicular neoplasm
Endometrioid tumor
Glomus vagale tumor
Benign pheochromocytoma
Halo nevus
Melanotic malignant nerve sheath tumor
Compound leukemias
Neutrophilic Leukemia
Localized recessive dystrophic epidermolysis bullosa
Generalized dystrophic epidermolysis bullosa
Inherited disorder of keratinization
Spindle cell nevus of Reed
Brown tumor of hyperparathyroidism
Perinatal pulmonary hemorrhage
Neonatal hyperglycemia
"Hypercalcemia, Infantile"
Idiopathic infantile hypercalcemia - mild form
"Leukemia, Prolymphocytic, B-Cell"
Perinatal anoxic-ischemic brain injury
Disorder of keratinization
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Generalized pruritus
Papillary neoplasm
Endometrial Carcinoma
ovarian serous tumor
Chondrogenic Neoplasm
Head movements abnormal
pricking of skin
Developmental symptoms
Metabolic symptoms
Delayed developmental milestones
Dyslexia
Cardiovascular symptoms
Respiratory distress
Breath-holding spell
Right iliac fossa pain
Blood gases abnormal
Echocardiogram abnormal
Electroretinogram abnormal
Electromyogram abnormal
Lung function testing abnormal
Reduced vital capacity
Physical violence
Chronic intractable pain
Restlessness and agitation
Generalized enlarged lymph nodes
Other specified coagulation defects
Other primary thrombocytopenia
Other combined immunodeficiencies
Immunodeficiency associated with other specified major defects
Other dystonia
Other specified extrapyramidal and movement disorders
Other specified degenerative diseases of nervous system
Other forms of migraine
Post-Traumatic Hydrocephalus
Dermatitis and eczema
Other specified nonscarring hair loss
Other chondrocalcinosis
Necrotising vasculopathy
"[X]Spinal osteochondrosis, unspecified"
Cervical disc disorder
"Adult osteomalacia, unspecified"
Hereditary nephropathy
Other chronic tubulo-interstitial nephritis
Other reduction deformities of brain
Other specified congenital malformations of brain
Other congenital corneal malformations
Other congenital malformations of anterior segment of eye
Other malformations of cerebral vessels
"Congenital malformation of cardiac chambers and connections, unspecified"
Other specified congenital malformations of respiratory system
Other doubling of uterus
"Other congenital malformations of spine, not associated with scoliosis"
Other congenital ichthyosis
Other epidermolysis bullosa
Other congenital malformation syndromes with other skeletal changes
Other deletions of part of a chromosome
Disorder of psychological development
Human anaplasmosis due to Anaplasma phagocytophilum
hydatids
Ejection fraction (procedure)
Height
Disseminated due to other mycobacteria
Glanders and melioidosis
"Neurosyphilis, Symptomatic"
Secondary malignant neoplasm of small intestine
Secondary malignant neoplasm of liver
Combined immunodeficiency
Other specified immunodeficiencies
Type 2 diabetes mellitus without complication
"Lipodystrophy, not elsewhere classified"
"Reaction to severe stress, and adjustment disorders"
Nonorganic Sleep Wake Cycle Disorders
Specific developmental disorders of speech and language
"Alzheimer Disease, Late Onset"
Tonic - clonic seizures
Other headache syndrome
Mononeuropathies
Diseases of inner ear
Hepatic fibrosis and cirrhosis
Vulval intraepithelial neoplasia grade 1
Vulval intraepithelial neoplasia grade 2
Noninfective neonatal diarrhea
"Congenital absence, atresia and stricture of auditory canal (external)"
Congenital scoliosis due to bony malformation
Congenital malformation syndromes involving early overgrowth
Dysarthria and anarthria
elevated blood glucose level
Malignant neoplasm of lateral floor of mouth
Malignant neoplasm of abdominal part of esophagus
Malignant neoplasm of appendix
Malignant neoplasm of endocrine pancreas
Malignant tumor of eye
Malignant neoplasm of pituitary gland
Benign neoplasm of liver
Benign neoplasm of kidney
"Benign neoplasm of brain, unspecified"
Benign neoplasm of pituitary gland
Neoplasm of uncertain or unknown behavior of stomach
Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of testis
Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of breast
Lymphadenopathy
hiv-infection/aids
Abnormal ocular motility
Hearing complaints (excluding H84-86)
Neoplasm of cardiovascular system
Uncomplicated hypertension
hypertension complicated
meningitis/encephalitis
Feeling depressed
Dementia
atopic eczema/dermatitis (non-specific)
Anorexia and bulimia syndrome
Overweight
Benign digestive system neoplasms
Benign neurologic neoplasms
Congenital neurologic anomalies
Hemoglobin measurement
body fat percentage (physical finding)
Change in voice (finding)
Chronic fatigue
Chlamydia trachomatis infection
Left atrial myxoma
BRONCHIAL ADENOCARCINOMA
Dental abscess
Acute diverticulitis
Gastrointestinal amyloidosis
HEPATOSPLENIC LYMPHOMA
Pneumonia due to Klebsiella pneumoniae
Lymphoma of colon
Renal involvement in scleroderma
Acute Q fever
tuberculosis chronic pulmonary
Left ventricular aneurysm
ASSAY FOR TACROLIMUS
Necrotizing Enterocolitis
Chronic active hepatitis
Aseptic Necrosis of Bone
Prostatic Adenoma
Somatization Disorder
Rebound hypertension
Hypotensive episode
Arteriovenous malformation of liver
Numbness of tongue
Fibrosis of bile duct
Enzymopathy
Buffalo hump
Cerebrovascular amyloidosis
Acute pyelonephritis
Retractile testis
Menopausal depression
Premenstrual Dysphoric Disorder
Postpartum psychosis
"Sleep Apnea, Obstructive"
"Sleep Apnea, Central"
Pallidopontonigral degeneration
Stenosis of retinal artery
Retraction Nystagmus
Coombs positive hemolytic anemia
Hereditary pyropoikilocytosis
Mediastinal lymphadenopathy
Paratracheal lymphadenopathy
Delayed Emergence from Anesthesia
Prolonged neuromuscular block
Posttransfusion viral hepatitis
Progressive subcortical gliosis
Hepatic schistosomiasis
Unexplained sudden death
Patellar clonus
Raised jugular venous pressure
Diastolic dysfunction
Shortened PR interval
ST segment elevation (finding)
ST segment depression (finding)
Inverted T wave
Postoperative Nausea
"Vomiting, Postoperative"
Postoperative Nausea and Vomiting
Decreased fertility
Abnormal spermatogenesis
Clumsiness - motor delay
Localized pain
Abnormal coordination
Accommodation phosphene disorder
Recurrent tumor
Vasculitic rash
Osteoporotic Fractures
Granulomatosis
Microcalcification
Neuropil Threads
Toxicoderma
Mucocutaneous ulcer
Mucous membrane hyperplasia
Calcific tendinitis
Polymyalgia
Short neck
Shortened trunk
Diaphragmatic paresis
Atrial septal aneurysm
Congenital anomaly of joint
Retinal arteriovenous malformation
Coloboma of eyelid
Congenital strabismus
Gastrointestinal mucositis
Peritoneal Fibrosis
Gallstone pancreatitis
Pseudoporphyria
Stenosis of ureter
Obstruction of pelviureteric junction
Dilatation of ureter
Bilateral hydronephrosis
Kidney crystallization
Fibrosis of urinary bladder
Neonatal respiratory failure
Caffeine withdrawal
Neurologic Deficits
"Motor Neuron Disease, Upper"
"Hemiplegia, Transient"
"Paraparesis, Chronic Progressive"
Acute Confusional Migraine
Primary Thunderclap Headache
Cranial nerve compression
Chorioretinal degeneration
Glaucomatous retinal degeneration
Generalized progressive retinal atrophy
Atrophic retina
Vogt-Koyanagi-Harada like syndrome
Unilateral cataract
Bilateral cataracts (disorder)
Clouding of corneal stroma
Corneal fibrosis
"Corneal dystrophy, epithelial basement membrane"
Lower eyelid entropion
Lower eyelid ectropion
Temporary Nystagmus
Permanent Nystagmus
Unidirectional Nystagmus
Multidirectional Nystagmus
Conjugate Nystagmus
Convergence Nystagmus
Fatigable Positional Nystagmus
Non-Fatigable Positional Nystagmus
Asteroid hyalosis
"Hearing Loss, Unilateral"
"Tinnitus, Clicking"
"Tinnitus, Leudet"
Central cyanosis
Congenital atransferrinemia
Influenza-like illness
Increased drug tolerance
Increased drug resistance
Decreased drug resistance
Symptoms of stress
Edema of the upper extremity
Acute chest pain
Electrocardiogram abnormal
Pancreatic symptom
Pancreatic pain
Urine Discoloration
Delinquent behavior
Death anxiety
Tocophobia
Sexual inhibition
Abnormal visual evoked potential
Abnormal auditory evoked potential
Paralysed
Analgesic Overuse Headache
Humoral immune defect
"Reflex, Acoustic, Abnormal"
"Vertigo, Paroxysmal"
Focal dysplasia
Subcutaneous panniculitis-like T-cell lymphoma
"Acute lymphoblastic leukemia, L1 type"
"Acute myeloid leukemia, minimal differentiation"
Complement factor H measurement
Complement factor I measurement
Complement decay accelerating factor measurement
Acylcarnitines measurement
Alanine measurement
Serum albumin measurement
Angiotensinogen measurement
Apolipoprotein B Assay
Apolipoproteins E measurement (procedure)
Asparagine measurement
beta-Endorphin measurement
Catalase measurement
VLDL cholesterol measurement
Citrulline measurement
Folic acid measurement
Fibronectin measurement
Glycine measurement
Hemopexin measurement
Histidine measurement
5-Hydroxyindoleacetic acid measurement
Lipids measurement
Lysine measurement
Ornithine measurement
Oxygen saturation measurement
Oxytocin measurement
Inorganic phosphate measurement
Phosphatidylcholine measurement
Proline measurement
Serine measurement
Testosterone measurement
Threonine measurement
Cardiac troponin T measurement
Tryptophan measurement
Vitamin D3 measurement
Pseudoaphakia
Pervasive Development Disorder
Deciduoma
Mulibrey Nanism
Mean Corpuscular Volume (result)
Aseptic Necrosis of Femur Head
Chronic Alcoholic Hepatitis
Cryptogenic Chronic Hepatitis
Metabolic Syndrome X
Narcotic Abuse
Opiate Addiction
Neuropapillitis
"Periodontitis, Acute Nonsuppurative"
Pneumonic Plague
Pulmonary Thromboembolisms
Odontome
Retinal Neoplasms
Intracranial Hypotension
Neurodegenerative Disorders
"Hepatitis B, Chronic"
"Hepatitis C, Chronic"
"Hepatitis D, Chronic"
"Hepatitis, Chronic, Drug-Induced"
Maxillofacial Abnormalities
Corneal Topography
Schnitzler Syndrome
Neurobehavioral Manifestations
Mood Disorders
Schizophrenia Spectrum and Other Psychotic Disorders
Neuroendocrine disease or syndrome
Nephrosis and Glomerulosclerosis
Stress polycythemia
Delayed bone age
Platelet aggregation abnormal
Atrial standstill
Skeletal muscle atrophy
Early Awakening
Spermatozoa abnormal
Duodenal Cancer
Epigastric burning
"Fasciculation, Skeletal Muscle"
Gene genetic abnormality
Erythroid hypoplasia
Hypotriglyceridemia
Marrow hypercellular
Paralysis radial
Recurrent Laryngeal Nerve Paralysis
Pseudoparkinsonism
Lupus-like rash
Loss of speech
Morphological abnormality of the vestibule of the inner ear
Blood Pressure Disorders
Hypochondrogenesis
Forgetful
Blue sclera
Enlarged kidney
Congenital absence of kidney
Facial edema
Residual Tumor
Glycogen Storage Disease IXB
Sucrase deficiency
"Hyperlysinemia, type I"
HYPERGLYCINURIA (disorder)
Motiloma syndrome
Cervical syndrome
"Lupus erythematosus, subacute"
Fibrosing disease
"Megaloblastic anemia, secondary"
Heterozygous hemoglobinopathy
Idiopathic Autoimmune Hemolytic Anemia
"Neutrophilia, Hereditary"
Fibrinolytic disorder
Thymic alymphoplasia
Mixed cryoglobulinemia
Hypersensitive syndrome
ASA intolerant asthma
"Klinefelter Syndrome, Variants"
Idiopathic hypercalciuria
Progressive cardiomyopathic lentiginosis syndrome
Atherosclerotic occlusive disease
"Respiratory distress syndrome, children"
"Motor Neuron Disease, Secondary"
"Amyotrophic Lateral Sclerosis, Guam Form"
"Apraxia, oculomotor, Cogan type"
Epileptic encephalopathy
Neuroleptic-Induced Tardive Dyskinesia
"Psychosis, childhood onset"
SCHIZOPHRENIA 10
Cone dysfunction syndrome
"Glaucoma, primary"
Chronic primary angle closure glaucoma
Chandler syndrome
Fuchs' syndrome
Orthostatic hypertension
Focal Sensory Seizure
"Hallucinations, Kinesthetic"
Hypomanic personality
Genu varum
wegener's granuloma
"Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp"
"Myositis, Proliferative"
"Histiocytosis, generalized eruptive"
Macular amyloidosis
Nodular amyloidosis
"Dystrophy, granular"
"Hypertrichosis, universal"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3"
Neurocutaneous melanosis
Somatic mutation
Autophagic vaculoes (finding)
pituitary giant
Acrokeratoelastoidosis of Costa
Advanced bone age
Intermediate cell carcinoma
Myxoid/Round Cell Liposarcoma
Composite Lymphoma
mantle lymphoma
Supernumerary metacarpal bone
"Nemaline Myopathy, Childhood Onset"
Acute Confusional Senile Dementia
"Mercury Poisoning, Nervous System"
Congenital Fiber Type Disproportion
Single right ventricle
Hypoganglionosis
Hallux Varus
Mucosal erosion
Focal oral mucinosis
Hepatic periportal necrosis
Macular cutaneous amyloidosis
Nodular cutaneous amyloidosis
Idiopathic cardiac hypertrophy
Multiple self-healing squamous epithelioma
Lung cyst
Fluid overload
Malignant neoplasm of esophagus
Nodding spasm
Hypovolemia
Congenital facial asymmetry
Subacromial bursitis
Atrial tachycardia
Genu recurvatum
Parachute malformation of mitral valve
Monilethrix
Posterior embryotoxon
Fistula of branchial cleft
"Preauricular Fistulae, Congenital"
Cystic fibrosis with meconium ileus
Post-Concussion Syndrome
Acute viral encephalitis
"Larva Migrans, Cutaneous"
Mixed oligoastrocytoma
Distress gastrointestinal
Low frustration tolerance
Burn infection
Frontal lobe syndrome
Hemiplegia-hemiconvulsion-epilepsy syndrome
Large tonsils (finding)
Pulmonary renal syndrome
Pseudofolliculitis barbae (disorder)
Follicular keratosis
Infant Death
Congenital atresia of rectum
Fibromatosis colli
Myasthenic Syndrome
Dilatation of the bladder
Opiate withdrawal symptoms
Thrombosis of inferior vena cava
Auricular swelling
Mesomelia
Morning glory syndrome
"Hydatidiform mole, benign"
Abdominal adhesions
Recurrent Carcinoma
Sensation of warmth
Alcohol problem
Deviated nasal septum
Low density lipoprotein increased
Low APGAR score
Palmar-plantar erythrodysesthesia syndrome
Blast cell proliferation
Obstructive Hydrocephalus
Hemoglobin increased
X-Linked Lymphoproliferative Disorder
Pancoast Tumor
Thyroid carcinoma
Alveolitis
Oropharynx (excludes nasopharynx)
Pigmentation Disorders
VEINS/LYMPHATICS
Dysfunction adrenal
Biliary tract abnormality
MALE GENITAL ABNORMALITIES
Sexual Dysfunction
Abnormal delivery
Abnormality of the lens
Necrotizing Arteritis
Jackknife Seizures
Primary infertility
Systemic mycosis
Post-tuberculous reactive arthritis
Ewings sarcoma
Round cell sarcoma
Cafe-au-lait macules with pulmonary stenosis
Myotonic Disorders
Soft tissue rheumatism
calcifying aponeurotic fibroma
Skin endocrine disorder
Labored breathing
Hypofibrinogenemia
Cerebral herniation
Brain hemorrhage
Oropharyngeal disorders
Heinz body observation
Malignant epithelioma
BREAST PAIN FEMALE
Renal artery occlusion
Spherocytosis
Diminished sweating
Squamous cell carcinoma of skin
Calcium pyrophosphate deposition disease
Olfaction Disorders
Congenital Cerebral Palsy
Endomyocardial Fibrosis
Recurrent mouth ulcers
Villous atrophy
Intestinal malabsorption of fat
Pancreatic malabsorption
Prerenal uremia syndrome
"Polymyositis, Idiopathic"
Group A Streptococcal Infections
poorly controlled diabetes mellitus
Pallor of optic disc
Racing thoughts
Moody (finding)
Aggressive outburst
Florid cemento-osseous dysplasia
Malignant Glioma
"Malignant lymphoma - lymphocytic, intermediate differentiation"
Chiari malformation type II
Multiple lung cysts
pseudohermaphrodite (non-specific)
Cerebral metastasis
Nasal infection
Oral infection
Infection of foot
Gross motor impairment
Mental health impairment
Binge Drinking
Drunk driving
Craving for alcohol
Household income
Global developmental delay
Tired
Intrusive thoughts
Verbally abusive behavior
Distorted body image
Macerated skin (finding)
Curly hair (finding)
Stiff limbs
Tongue Carcinoma
Tonsillar Carcinoma
Malignant melanoma of eye
Arthritis/arthrosis
Disorder of neck
Renal pain
Uric acid renal calculus
Knee reflex absent
"Reflex, Ankle, Absent"
"Reflex, Triceps, Absent"
"Reflex, Biceps, Absent"
Nasal and nasal-type NK/T-cell lymphoma
Lump on thigh
Carcinoma of the rectosigmoid junction
Functional Gastrointestinal Disorders
Ventricular preexcitation
Congenital scoliosis
Subchondral hematoma
Sacrococcygeal teratoma
Adrenal neuroblastoma
Allergy to eggs
Allergy to peanuts
Pentalogy of Cantrell
Neonatal unconjugated hyperbilirubinemia
Genital tuberculosis
Difficulty running
"Memory, Episodic"
Perineal fistula
Hip circumference
Manic behavior
Sexually disinhibited behavior
Carcinoma of anal canal
Poor coordination
IgA myeloma
IgG myeloma
IgD myeloma
IgM monoclonal gammopathy of uncertain significance
"Epispadias, male (disorder)"
"Hallucinations, Formed, of People"
Agnosia for Pain
Manifest-latent nystagmus
"Hallucinations, Reflex"
Manic mood
Impulsive character (finding)
Obstetric disorders
Maternal hypertension
Primary sclerosing cholangitis
Nasal voice
Large placenta
Small placenta
Narrow sacrosciatic notch
Small labia majora
Pain of uterus
Allergy to chlorpromazine
Allergy to vaccine
Overdose of cocaine
Edema of foot (finding)
Axillary vein thrombosis
Vertebral artery aneurysm
Guanidinoacetate methyltransferase deficiency
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
Liver calculus
Drug-induced erythema multiforme
Hair absent (finding)
Loss of scalp hair
Lower Urinary Tract Symptoms
Sacroiliitis
Cervical spine hypermobility
Finger joint hypermobility
Knee joint laxity
Spastic tetraparesis
Skeletal muscle tender
Gait abnormality
Equilibration disorder
Deformity of spine
Kyphoscoliosis deformity of spine
Cervical kyphosis
Long thorax
Short sternum
Hypertrophy of upper limb
Thin clavicle
Small hand
Radial deviation of hand
Small finger
Thumb deformity
Knee joint valgus deformity
Long foot
Short foot
Narrow foot
"Reflex, Anal, Absent"
Impaired body position sense
Lesion of salivary gland
Tonsil absent
Lesion of rectum
Gallbladder absent
Mass of body region
C4 complement assay (procedure)
Nut Hypersensitivity
Allergy to metal
Carotid Atherosclerosis
Quadriceps weakness
Infected hand
"Low Back Pain, Postural"
Disseminated squamous cell carcinoma
Exercise-induced angina
Finding of body mass index
Thin lips
Antibiotic-associated diarrhea
Ischemic foot
Adenocarcinoma of sigmoid colon
Pain in femur
Neck swelling
Cyanotic attack
Duodenal polyposis
Skin dimple
Cavitation of lung
Dissection of proximal aorta
blue iris (physical finding)
Madarosis of eyebrow
Inguinal lymphadenopathy
Chronic idiopathic urticaria
Inflammation of large intestine
Cavovarus deformity of foot
Portal hypertensive gastropathy
Benign lymphocytic infiltration of Jessner
3-Phosphoglycerate dehydrogenase deficiency
Neutrophil count abnormal
Prothrombin time low
Serum testosterone level abnormal
Lymphocyte count abnormal
Vertebral osteoporosis
Redundant skin
Recurrent sinusitis
Acute intestinal obstruction
Recurrent cystitis
Single coronary vessel disease
Double coronary vessel disease
Decompensated cardiac failure
Recurrent upper respiratory tract infection
Chronic anemia
Chronic anxiety
Chronic depression
Exacerbation of multiple sclerosis
Tongue symptoms
Late insomnia
Transient neurological symptoms
Complete Hearing Loss
Acute asthma
Processing speed
Choanal stenosis
Factor V Leiden mutation
Homozygous Factor V Leiden mutation
Heterozygous Factor V Leiden mutation
Deficiency of enoyl-CoA hydratase
Acute sciatica
Chronic sciatica
Hemorrhagic pleural effusion
Retroperitoneal sarcoma
Gastric retention
Cutaneous hypersensitivity
Infected ascites
Minor oral aphthous ulceration
Alpha-Thalassemia Myelodysplasia Syndrome
Multiple lacunar infarcts
Hypoglossal Nerve Palsy
Periodic syndrome
Squamous cell carcinoma of mouth
Osteosarcoma of bone
Chondromyxoid fibroma of bone
Ewing's sarcoma of bone
Pilomatrix carcinoma of skin
X-Linked Infantile Nystagmus
"Myoclonus, Oculopalatal"
Downbeat nystagmus
Macrosaccadic oscillations
Dysplasia of larynx
Laryngotracheomalacia
Demyelination of spinal cord
Alcohol Withdrawal Seizures
Esophageal dysplasia
Biliary Intraepithelial Neoplasia
Moderate pancreatic duct dysplasia
Parkinsonian tremor
Skin symptom
Raised TSH level
Bladder polyp
Calf muscle weakness
Varicella Zoster Virus Infection
Right ventricular thrombus
Left ventricular thrombus
Anti-nuclear antibody measurement
Muscle weakness of limb
Costello syndrome (disorder)
Mild depression
Moderate depression
Severe depression
Nodular tenosynovitis
Postoperative deep vein thrombosis
Postoperative myocardial infarction
Nonspecific abdominal pain
Serum chloride level decreased (finding)
cortex bone disorders
Intraocular pressure disorder
Serum calcium increased
Aqueous Humor Disorders
Stillbirth
Atypical absence seizure
Drug exanthem
Carcinoma of larynx
Roseola rash of secondary syphilis
Idiopathic scoliosis
"Overjet, Dental"
acquired immunodeficiency
Binge eating disorder
Cancer Pain
Carcinogenesis
Cardiovascular Infections
Cerebrovascular Occlusion
Chemical Carcinogenesis
clinical anxiety
connective tissue hyperplasia
disabling disease
Infectious Encephalitis
lipoprotein disorder
mathematical ability
myelinopathy
Neurogenic hypertension
Obstructive asymmetric septal hypertrophy
Islets of Langerhans hyperplasia
Viral Carcinogenesis
viral leukemogenesis
Secondary antibody deficiency
secondary immune deficiency
high renin hypertension
renin induced hypertension
Juxtaglomerular cell hyperplasia
Biliary stricture
Encephalomyelopathy
Hypoglycorrhachia
Harlequin type ichthyosis
Diffuse cerebral atrophy
genetic hypertension
intestinal angiodysplasia
Inherited neuropathies
Hyperhomocysteinemia
inborn aminoaciduria
Leukemogenesis
Dyslipoproteinemias
lung sarcoma
Lymphoid neoplasm
Monocytic leukemia
Tumor Initiation
Hyperornithinemia
Waldenstrom's disease
glycosphingolipidoses
activation of latent virus
colon growth
stress related disorder
Arterial Stiffness
Waardenburg Anophthalmia Syndrome
Congenital absence of spleen
Acquired Kyphoscoliosis
Urinary outflow obstruction
Chronic interstitial cystitis
Infective cystitis
Malignant Cystosarcoma Phyllodes
Autotomy
Ureter Carcinoma
Toxic goiter
Obsessive compulsive behavior
Stromal tumor of ovary
Testicular stromal tumor
Acute hematogenous osteomyelitis
Prolonged PR interval
Prostate carcinoma
Hot flushes
Argentaffinoma
Low Cardiac Output Syndrome
External Carotid Artery Diseases
Cardiopulmonary Arrest
heroin abuse
"Lung Diseases, Obstructive"
Morphine Abuse
Periodontosis
Toxic Shock Syndrome
Subcorneal pustular dermatosis
Arteriosclerotic Dementia
Cocaine Dependence
Activated Protein C Resistance
Hepatopulmonary Syndrome
Neurogenic Inflammation
Vascular Hemostatic Disorders
Choroidal Neovascularization
Ventricular Remodeling
Left Ventricle Remodeling
Manganese Poisoning
Chronic nephritic syndrome
CARCINOMA OF VULVA
essential thrombocytopenia
Carcinoma testes
Stinging Sensation
Congenital Nephrogenic Diabetes Insipidus
Stomatocytosis Result
Inspiratory stridor
Hashimoto Disease
Chorioangioma
Macular drusen
Gastro-esophageal reflux disease with esophagitis
Emotional problems
Indolent Adult Non-Hodgkin Lymphoma
Aggressive Adult Non-Hodgkin Lymphoma
Hereditary Breast and Ovarian Cancer Syndrome
hereditary Wilms tumor
Neurofibromatosis 1 and 2 (NF1 and NF2)
Bilateral Malignant Neoplasm
Brain Stem Glioma
Brain Stem Neoplasms
Epithelial ovarian cancer
invasive cancer
Progressive Neoplastic Disease
Refractory cancer
Sentinel node (disorder)
Stage II Colorectal Cancer
Stage III Colorectal Cancer
Stage IV Colorectal Cancer
Locally Advanced Malignant Neoplasm
Stage IV Adrenal Cortex Carcinoma AJCC v7
Friend leukemia
Pemphigus neonatorum
"Hyperlipidemia, group A"
Anemia of inadequate production
Terminal Ileitis
Regional enteritis
Complete hydatidiform mole
Breast Carcinoma
Congenital Epicanthus
Serum chloride level result
polydrug use
alcohol sensitivity
drug substitution (abuse)
alcohol effect
prenatal alcohol exposure
Brain Waves
perseverative thinking
Low self-esteem
Disease recurrence
Polydrug abuse
relief drinking
familial alcoholism
paternal alcoholism
physical symptom
Foodborne Disease
"Tuberculosis, extrapulmonary"
neurodevelopmental anomaly
vascular ischemia
Vascular rupture
Vascular stenosis
Gastrointestinal dysfunction
Lesion of stomach
noninfectious hepatitis
alcohol flush reaction
iron loading anemia
myeloblastosis
Disorder of olfactory system
Aggressive personality
sexual deviance
Recidivism
Mental impairment
organic disease
hazardous drinking
Excessive drinking
parental alcoholism
inflammatory joint disease
renin-dependent hypertension
Myokymia
Carcinoma of lung
Bacterial sepsis
"Hemophilia, NOS"
Hypsarrhythmia
Deficiency of phosphoglycerate kinase
Reasoning
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
heart overload
Benign neoplasm of sweat gland
Benign bone neoplasm
Secondary malignant neoplasm of vertebral column
Secondary malignant neoplasm of soft tissues
Malignant neoplasm of muscle
Secondary malignant neoplasm of axilla
Chemical-induced asthma
Carcinoma in situ of lung
Biventricular congestive heart failure
Lenegre's disease
Secondary malignant neoplasm of heart
Hemangioma of spleen
Congenital hypoplasia of radius
Congenital Camptodactyly
Full supernumerary rib
Congenital anomaly of ischium
Incomplete ossification of pubis
Single naris
Abnormal lung lobation
Membranous ventricular septum defect
Muscular ventricular septum defect
Congenital dilatation of pulmonary artery
Congenital absence of jaw
Congenital absence of mandible
Cleft mandible
Cleft face
Congenital dilatation of bladder
"Pure Gonadal Dysgenesis, 46, XX"
Gonadal dysgenesis XX type deafness
Congenital hypoplasia of ovary
Persistent fetal uterus
Monophthalmos
Congenital abnormal shape of inner ear
Splenic Hypoplasia
Congenital hypoplasia of thymus
Congenital absence of thymus
Food anaphylaxis
Allergy to fruit
Smokeless tobacco keratosis
Malignant neoplasm of gastrointestinal tract
Metastatic Neoplasm to the Gallbladder
Gender Dysphoria
Tardive Dyskinesia
"Muscular Dystrophies, Limb-Girdle"
CNS metastases
Acute leukemia in remission
Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph nodes of neck
Meningococcal conjunctivitis
Lack of bone formation
Nephronophthisis
Psychoticism
heavy drinking
Hemangioma of skin
Pure gonadal dysgenesis
Parathyroid Gland Adenocarcinoma
Acrocephalopolysyndactyly
Gastrointestinal Pain
Central Diabetes Insipidus
Acanthocytosis
"Neurotic, stress-related and somatoform disorders"
"Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)"
Moderate obesity
Chronic atrial fibrillation
Cough variant asthma
Community acquired pneumonia
Recurrent pneumonia
Right lower quadrant pain
Excessive daytime somnolence
extranodal lymphoma
Macular fibrosis
Blood thyroid stimulating hormone analysis
Beta carotene measurement
Serum ferritin measurement
Chronic progressive chorea
Hereditary Chorea
Progressive chorea
"Sensory Neuropathy, Hereditary"
Benign congenital myopathy
Congenital muscular dystrophy (disorder)
Infection of ear
Cancer Relapse
Acute alcoholism
Colon Carcinoma
Stomach Carcinoma
Disaccharidase deficiency
Carcinoma of bladder
Malignant Female Reproductive System Neoplasm
Skin carcinoma
airway disease
Idiopathic hypertrophic subaortic stenosis
Motor restlessness
Decreased tendon reflex
Central neuroblastoma
Carcinoma bone
PANCREAS EXOCRINE
Alcoholic blackout
Pulmonary aspiration
Multiple nevi
Presyncope
Dyssomnias
Structural Clinical Interview for DSM-III
Serum creatinine raised
Brachial Plexus Neuropathies
Hypoxemia
Heinz Body Anemias
"Candidiasis, Vulvovaginal"
Organophosphate poisoning
Ependymoblastoma
Pulmonary amyloidosis
Total iron binding capacity function
Sick Headaches
Congenital nystagmus
Acquired hypothyroidism
Chronic peptic ulcer
Radiculopathy
Spinal Muscular Atrophies of Childhood
Anxiety state
Strudwick syndrome
Focal nodular hyperplasia of liver
"Pyloric Stenosis, Hypertrophic"
Adrenogenital disorder
Acute anterior uveitis
Poor short-term memory
Choledocholithiasis
Staggering gait
Acute mastoiditis
Perinatal death
Coronary cataract
Primary atypical pneumonia
Congenital absence of external ear
Thalassemia trait
Constitutional aplastic anemia
Acne
Atrichia
Acrania
Basophilia
Parasympathomimetic Disorders
Congenital pes cavus
Serum albumin level
Absent finger
Disorder of circulatory system
Decreased circulating parathyroid hormone level
Dissecting aneurysm of the thoracic aorta
Preterm premature rupture of membranes (disorder)
Osteochondritis juvenilis
Subfertility
Bacterial respiratory infection
Bacterial upper respiratory infection
Bacterial oral infection
Viral respiratory infection
Genital infection
Infection of digestive system
Floating-harbor syndrome
Infective meningitis
Myocarditis due to infectious agent
Arteriovenous graft
Infective pharyngitis
Corneal Infection
Serpiginous choroiditis
Villous adenoma of rectum
Superficial femoral artery occlusion
Myopic macular degeneration
Vitreomacular traction syndrome
Macular pseudohole
Mild non-proliferative diabetic retinopathy
Moderate nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy
Proliferative diabetic retinopathy - quiescent
Clinically significant macular edema
Diabetic macular edema
Ischemic maculopathy
Choroidal ischemia
Cone Dystrophy
Choroidal dystrophy
Macular dystrophy
North Carolina macular dystrophy
BASAL LAMINAR DRUSEN (disorder)
Acute zonal occult outer retinopathy
Capillary hemangioma of retina
Cavernous hemangioma of retina
Cancer-Associated Retinopathy
Melanoma-Associated Retinopathy
Inherited optic neuropathy
Chronic central serous chorioretinopathy
Acute central serous chorioretinopathy
Punctate inner choroidopathy
Multiple evanescent white dot syndrome
Central Serous Chorioretinopathy
Microalbuminuria
Disorder of macula of retina
Idiopathic polypoidal choroidal vasculopathy
Rod dystrophy
Anhydramnios
Chronic Post-Traumatic Stress Disorder
Emotional abuse
Moderate chronic obstructive pulmonary disease
Severe chronic obstructive pulmonary disease
"Hypophosphatemic Rickets, X-Linked Dominant"
Carcinoma of glottis
Anal and rectal conditions
Pelvic prolapse
Bile duct carcinoma
Cerebellar atrophy
Multiple allergies
5q-syndrome
COPD exacerbation
Throat cancer
"Amyloidosis, Familial"
Germ Cell Cancer
Back Pain with Radiation
Benign cyst of ovary
Gastrointestinal lymphoma
Middle Cerebral Artery Thrombosis
Varicella zoster
"Aneurysm, Middle Cerebral Artery"
"Aneurysm, Anterior Communicating Artery"
"Aneurysm, Posterior Cerebral Artery"
Middle Cerebral Artery Occlusion
"Infarction, Middle Cerebral Artery"
Hyperuricemia
Auditory and visual hallucinations
Duodenal ulcer perforation
Limb defects
Incarcerated hernia
Psychotic behaviour
Lupus encephalitis
Chronic back pain
Postsurgical menopause
Stomach fullness
Acute diarrhea
Diabetic peripheral neuropathy
Granulomatous disorder
Herpes simplex type I
Malignant neoplasm of kidney
Biliary carcinoma
Undifferentiated High Grade Pleomorphic Sarcoma of Bone
Maxillary Sinus Carcinoma
Acute abdominal pain
Abdominal symptom
Multiple abscesses
ABUSE NEGLECT
Chronic metabolic acidosis
Acute pneumonia
AIDS defining illness
AIDS related illness
airway disease restrictive
Upper airway obstruction
Substance abuse problem
Hypochloremic metabolic alkalosis
Hypokalemic hypochloremic metabolic alkalosis
Hypokalemic metabolic alkalosis
allergic symptom
allergy chronic
Allergy to grass pollen
Elevated maternal serum alpha-fetoprotein
Acute anaemia
Chronic iron deficiency anaemia
anemia hemoglobin
"Anemia, normochromic macrocytic"
Atypical angina
Refractory angina
anxiety acute
"Aortic Aneurysm, Ruptured"
aortic stenosis symptomatic
arthritis symptoms
aspirin sensitivity
Adult onset asthma
Intermittent ataxia
ATRIAL ENLARGEMENT
atrial fibrillation new onset
back pain mechanical
Bandemia
Elevated total bilirubin
bladder symptoms
BODY ACHE
Brachial artery occlusion
Premenopausal breast cancer
breast fullness
Recurrent bronchitis
Poorly differentiated carcinoma
carcinoma sarcoma
Cardiac defects
Structural cardiac defects
cardiac event
cardiac symptom
Cardiovascular Pathology
carotid disease
Catheter infection
cellulitis superficial
Cerebellar vermis atrophy
cerebellar function
Cerebellar lesion NOS
Cerebellar signs
Mass lesion of brain
Cerebritis
cervical cancer metastasis
cervical mass
"Radiculopathy, Cervical"
Cervical spinal cord atrophy
Acute Chest Syndrome
"Cholestasis, chronic"
Central nervous system lesion
colon cancer liver metastasis
colon (non-specific) lesion
colon (non-specific) polyp hyperplastic
Polyp of sigmoid colon
High-output congestive heart failure
Multiple contractures
Conus Medullaris Syndrome
Acute cough
cyst benign
Bacterial cystitis
Eosinophilic cystitis
Abnormal Deep Tendon Reflex
"Depression, psychotic"
depression anxiety disorder
Granulomatous dermatitis
developmentally delayed
Intractable diarrhea
diarrhea persistent
Chronic drug abuse
"Dysphagia, progressive"
Acute dyspnea
Resting Dyspnea
Focal Dystonia
Recurrent ear infections
emotional dysfunction
endometrial polyp benign
eyes dry chronic
Disorder characterized by fever
Acute febrile illness
Short fetal femur length
Flank Mass
flexor tenosynovitis
Diabetic foot infection
gastric ulcer benign
gastritis h pylori
Gastroenterocolitis
Gastrointestinal arteriovenous malformation
Gastrointestinal polyps
Abnormality of the genital system
Immune-complex glomerulonephritis
Disseminated infection caused by Neisseria gonorrhoeae
gout tophaceous
Gram-negative bacteremia
Gram-positive bacteremia
growth hormone treatment
Tenosynovitis of hand
Head and neck cancer metastatic
Metastatic Head and Neck Squamous Cell Carcinoma
Complex congenital heart disease
heart inflammation
Liver sarcoidosis
hepatitis cryptogenic
hepatitis immune
Metastatic hepatocellular carcinoma
Recurrent singultus
hip infection
hip pain chronic
homicidal
Hypereosinophilia
Hyperlipoproteinemia Type IIa
hyperparathyroid
Macular hyperpigmentation
Resistant hypertensive disorder
Isolated systolic hypertension
Hypertensive emergency
Hypertensive urgency
"Hypoglycemia, acute"
Hypoglycaemic episode
hypoventilation syndrome
Immunoglobulin deficiency
Infantile apnea
infertility tubal factor
irregular bleeding
ischemic attack
Thrombosis of internal jugular vein
Klebsiella sepsis
knee pain chronic
knee symptoms
Dilated left ventricle
Multiple lipomata
End Stage Liver Disease
liver disease parenchymal
Hepatic granuloma
lower extremity neuropathy
Lumbar spondylolisthesis
Chronic lung disease
lung disease granulomatous
Chronic interstitial lung disease
lupus cutaneous
lymph node infected
lymph node necrotic
Benign Lymphoproliferative Disorder
malaria relapse
manic symptom
mass lesion
Recurrent meningitis
metabolic disturbance
Mitral valve endocarditis
muscle pain chronic
Generalized muscle weakness
Acute myocardial ischemia
Chronic nasal congestion
nausea chronic
Cancer of Neck
nephropathy salt wasting
Focal Neurologic Deficits
Chronic neutropenia
Febrile Neutropenia
Hyperpigmented nevi
"Multiple, subcutaneous nodules"
Obstructive ventilatory defect
organic heart disease
Generalized osteopenia
Chronic otitis
Recurrent otitis media
Ovarian failure
pacemaker ddd
Uncontrolled pain
Biliary acute pancreatitis
pancreatitis biliary
pancreatitis idiopathic
Erythematous papule
Paranoid ideation
Progressive spastic paraparesis
Parasitic infection
Malignant tumour of parotid gland
Periodontal infection
Recurrent peritonitis
Pharyngeal Carcinoma
Recurrent pharyngitis
pituitary incidentaloma
Recurrent aspiration pneumonia
Recurrent bacterial pneumonia
pneumonia childhood
Postobstructive pneumonia
"Pneumothorax, recurrent"
Polychondritis
polyglandular failure
polyp benign
Polysubstance abuse
Thrombosis of the popliteal vein
preeclampsia postpartum
"Malaria, antepartum"
early pregnancy
pregnancy preterm
Nodular prostate
Bacterial prostatitis
pruritus chronic
Erythrodermic psoriasis
psychiatric hospitalization
psychosocial impairment
psychosocial stressor
Pulmonary Pathology
Recurrent pyelonephritis
rapid ventricular response
respiratory compensation
Acute respiratory distress
retinal neuropathy
Reynolds syndrome
Right atrial enlargement
"Arthritis, Sacroiliac"
Salmonella bacteraemia
"Sarcoma, metastatic"
sciatic nerve inflammation
"Scleroderma, Limited"
nocturnal seizures
Recurrent seizure
Sellar Region Neoplasm
sick sinus
Chronic sinus disease
Allergic sinusitis
Metastatic small cell carcinoma
Spinal cord degeneration
spinal cord involvement
Moderately differentiated squamous cell carcinoma
Thrombosis of subclavian vein
"Hematoma, Subdural, Acute"
Active suicidal ideation
Supraglottic Squamous Cell Carcinoma
Orthostatic syncope
syphilis infection
temporal pain
Thoracolumbar scoliosis
Chronic thrombocytopenia
Thyroid Agenesis
Thyroid Hurthle Cell Carcinoma
thyroid cancer lymphoma
Benign thyroid nodule
Thyroid cold nodule
thyroid nodule solitary
toe necrosis
tonsillopharyngitis
"Upper Extremity Deformities, Congenital"
Upper motor neuron signs
Granulomatous uveitis
Vaginal neoplasia
VAGINOSIS
Occlusive vascular disease
Vaso-Occlusive Crisis
vasomotor symptom
Ventral incisional hernia
Non-sustained ventricular tachycardia
Sustained ventricular tachycardia
Malabsorption of Vitamin B12
"Vomiting, recurrent"
Coumarin Resistance
Proximal weakness
"Wound, non-healed"
Yeast infection
"Physical Appearance, Body"
hyperthyroid cardiac disease
Finding of creatine kinase level
Monocyte count result
Adrenal Cancer
"Alzheimer's Disease, Focal Onset"
"Alzheimer Disease, Early Onset"
"Amino Acid Metabolism, Inherited Disorders"
Tactile Amnesia
Amnestic State
Pre-Ictal Amnesia
Retrograde Memory Loss
Pre-Ictal Memory Loss
"Aphasia, Auditory Discriminatory"
"Aphasia, Commisural"
"Aphasia, Post-Ictal"
"Aphasia, Post-Traumatic"
Dejerine-Lichtheim Phenomenon
"Apraxia, Developmental Verbal"
"Apraxia, Facial-Oral"
"Arnold-Chiari Malformation, Type I"
"Arnold-Chiari Malformation, Type III"
"Arnold-Chiari Malformation, Type IV"
Cerebral Astrocytoma
Intracranial Astrocytoma
"Ataxia, Appendicular"
"Tremor, Rubral"
Auditory Inattention
Peripheral Autonomic Nervous System Diseases
"Nervous System Diseases, Parasympathetic"
"Nervous System Diseases, Sympathetic"
Vertebrogenic Pain Syndrome
Lenticulostriate Disorders
Biliary Tract Cancer
Urinary Bladder Neurogenesis
"Neurogenic Urinary Bladder, Spastic"
"Blindness, Monocular"
Central Nervous System Metabolic Disorders
Vasogenic Brain Edema
Cytotoxic Brain Edema
"Brain Tumor, Primary"
Recurrent Brain Neoplasm
Primary malignant neoplasm of brain
Internal Carotid Artery Diseases
"Arterial Diseases, Common Carotid"
Common Carotid Artery Thrombosis
External Carotid Artery Thrombosis
Internal Carotid Artery Thrombosis
"Catatonia, Malignant"
Schizophreniform Catatonia
Cerebellar Hemiataxia
"Aneurysm, Anterior Cerebral Artery"
"Aneurysm, Basilar Artery"
"Aneurysm, Posterior Communicating Artery"
Brain Aneurysm
Giant Intracranial Aneurysm
"Mycotic Aneurysm, Intracranial"
Intracranial Atherosclerosis
"Intracranial Arteriovenous Malformation, Ruptured"
"Cerebral Infarction, Left Hemisphere"
"Cerebral Infarction, Right Hemisphere"
Anterior Choroidal Artery Infarction
Subcortical Infarction
Carotid Circulation Transient Ischemic Attack
"Transient Ischemic Attack, Vertebrobasilar Circulation"
Crescendo Transient Ischemic Attacks
"Brain Stem Ischemia, Transient"
"Cerebral Palsy, Mixed"
"Cerebral Palsy, Rolandic Type"
Hereditary Motor and Sensory Neuropathy Type I
"Cockayne Syndrome, Type III"
"Cockayne Syndrome, Type II"
"Cockayne Syndrome, Type I"
"Color Blindness, Inherited"
Monochromatopsia
"Communication Disorders, Developmental"
Non-epileptic convulsion
"Seizure, Febrile, Complex"
"Cranial Neuropathies, Multiple"
"Craniopharyngioma, Child"
"Deafness, Acquired"
Familial Dementia
Frontotemporal Lobar Degeneration
Diabetic Neuralgia
Cancer of Digestive System
"Diplopia, Vertical"
"Trisomy 21, Mitotic Nondisjunction"
"Duane Retraction Syndrome, Type 2"
"Duane Retraction Syndrome, Type 3"
"Dyskinesia, Medication-Induced"
"Dystonia, Limb"
"Empty Sella Syndrome, Secondary"
Single Seizure
Awakening Epilepsy
Subclinical Seizure
Uncinate Seizures
Digestive Epilepsy
Cryptogenic Tonic-Clonic Epilepsy
"Epilepsy, Tonic-Clonic, Familial"
"Epilepsy, Tonic-Clonic, Symptomatic"
Benign Infantile Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
Atonic Absence Seizures
"Epilepsy, Absence, Atypical"
Facial Neuritis
Craniofacial Pain
"Facial Palsy, Upper Motor Neuron"
"Facial Palsy, Lower Motor Neuron"
Hemifacial Paralysis
"Fasciculation, Benign"
FRAXA Syndrome
FRAXE Syndrome
UDPglucose 4-epimerase deficiency disease
Adult Glycogen Storage Disease Type II
"Glycogen Storage Disease Type II, Infantile"
"Glycogen Storage Disease Type II, Juvenile"
Hallucination of Body Sensation
"Hallucinations, Internal Body Sensation"
Cancer of Head
Orthostatic Headache
Periorbital Headache
Post-Dural Puncture Headaches
Retro-Ocular Headache
Sharp Headache
Vertex Headache
"Hemiplegia, Post-Ictal"
Fulminant Hepatic Failure with Cerebral Edema
Hepatic Stupor
Cystathionine beta-Synthase Deficiency Disease
Akinetic-Rigid Variant of Huntington Disease
Juvenile Huntington Disease
"Hyperalgesia, Primary"
"Hyperalgesia, Secondary"
Tactile Allodynia
"Hyperalgesia, Thermal"
"Hyperesthesia, Tactile"
"Hyperesthesia, Thermal"
"Hyperkinesia, Generalized"
Inappropriate ACTH Secretion Syndrome
"Hypersomnia, Recurrent"
Hypersomnolence
Hypothalamic Dysfunction Syndromes
"Illusions, Visual"
Chronic Insomnia
Psychophysiological Insomnia
Secondary Insomnia
Sleep Initiation Dysfunction
"Creutzfeldt-Jakob Disease, Familial"
"Auditory Processing Disorder, Central"
Adult Learning Disorders
Learning Disturbance
Learning Disabilities
"Encephalopathy, Subacute Necrotizing, Infantile"
"Encephalopathy, Subacute Necrotizing, Juvenile"
Infantile Globoid Cell Leukodystrophy
"Metachromatic leukodystrophy, juvenile type"
"Metachromatic Leukodystrophy, Infant"
"Metachromatic Leukodystrophy, Adult-Type (disorder)"
Cystic Periventricular Leukomalacia
"Maple Syrup Urine Disease, Thiamine Responsive"
Desmoplastic Medulloblastoma
Age-Related Memory Disorders
"Memory Disorder, Semantic"
"Memory Disorder, Spatial"
Memory Loss
Leptomeningeal Neoplasms
Cerebral Convexity Meningioma
Parasagittal Meningioma
Acquired Meningomyelocele
"Multiple Sclerosis, Acute Fulminating"
"Hypertonia, Detrusor Muscle"
"Hypertonia, Infantile"
"Hypertonia, Neonatal"
"Hypertonia, Sphincter"
"Hypertonia, Transient"
Unilateral Hypotonia
Progressive Proximal Myelopathic Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy
Distal Muscular Dystrophies
X-Linked Emery-Dreifuss Muscular Dystrophy
"Myasthenia Gravis, Generalized"
"Myasthenia Gravis, Ocular"
Infectious Myelitis
"Myelitis, Postinfectious"
Myoclonus Simplex
"Myoclonus, Eyelid"
"Myoclonus, Lower Extremity"
"Myoclonus, Segmental"
"Myoclonus, Nocturnal"
"Myoclonus, Upper Extremity"
"Myoclonus, Action"
Polymyoclonus
Idiopathic Inflammatory Myopathies
"Myositis, Focal"
Myotonic Phenomenon
Percussion Myotonia
Becker Generalized Myotonia
Narcolepsy-Cataplexy Syndrome
"Cancer, Embryonal"
"Cancer, Embryonal and Mixed"
Radiation-Induced Cancer
"Neuralgia, Ilioinguinal"
Nerve Pain
Paroxysmal Nerve Pain
"Schwannomatosis, Plexiform"
Neurologic Dysfunction
Neurologic Signs
Foley-Denny-Brown Syndrome
Juvenile Neuronal Ceroid Lipofuscinosis
Cancer of Nose
Mixed Oligodendroglioma-Ependymoma
Well Differentiated Oligodendroglioma
Familial Olivopontocerebellar Atrophy
Ophthalmoparesis
Optic Disk Disorders
Post-Traumatic Osteoporosis
"Pain, Migratory"
"Suffering, Physical"
Upper Extremity Paresis
Lower Extremity Paresis
Painful Paresthesias
"Parkinson Disease, Secondary Vascular"
Atherosclerotic Parkinsonism
Pelvic Cancer
Hemispatial Neglect
Hereditary Autoinflammatory Diseases
Classical phenylketonuria
Hyperphenylalaninaemia
"Hyperphenylalaninemia, Non-Phenylketonuric"
Adenohypophyseal Diseases
Posterior pituitary disease
"Encephalitis, Polio"
"Poliomyelitis, Nonpoliovirus"
"Poliomyelitis, Preparalytic"
"Polyneuropathy, Familial"
Acquired Polyneuropathy
Developmental Psychomotor Disorders
Flaccid Quadriplegia
"Paralysis, Spinal, Quadriplegic"
Nerve Root Compression
Phonophobia
"Bulbocavernosus Reflex, Decreased"
Bulbocavernousus Reflex Absent
Palmo-Mental Reflex
"Reflex, Anal, Decreased"
"Reflex, Ankle, Abnormal"
"Reflex, Ankle, Decreased"
"Reflex, Biceps, Abnormal"
"Reflex, Biceps, Decreased"
"Reflex, Gag, Decreased"
"Reflex, Knee, Abnormal"
"Reflex, Knee, Decreased"
"Reflex, Moro, Asymmetric"
"Reflex, Triceps, Abnormal"
"Reflex, Triceps, Decreased"
Familial Retinoblastoma
Sporadic Retinoblastoma
Reye-Like Syndrome
Adult Sandhoff Disease
Infantile Sandhoff Disease
Juvenile Sandhoff Disease
Convulsive Seizures
"Seizures, Focal"
"Seizures, Sensory"
Special Senses Disorders
Petrous Sinus Thrombophlebitis
Intracranial Sinus Thrombophlebitis
Petrous Sinus Thrombosis
Insufficient Sleep Syndrome
REM Sleep Deprivation
Sleep Fragmentation
Long Sleeper Syndrome
Short Sleeper Syndrome
Sleep-Related Neurogenic Tachypnea
Subwakefullness Syndrome
Dysglossia
Rhinolalia
Verbal Fluency Disorders
"Status Epilepticus, Subclinical"
Non-Convulsive Status Epilepticus
Simple Partial Status Epilepticus
"Stuttering, Adult"
"Stuttering, Childhood"
"Stuttering, Developmental"
"Subarachnoid Hemorrhage, Aneurysmal"
Syncopal Episode
"Syncope, Cardiogenic"
Tangier Disease Neuropathy
Neurogenic Thoracic Outlet Syndrome
Malignant neoplasm of thymus
Childhood Tic Disorders
Motor Tic Disorders
"Tinnitus, Spontaneous Oto-Acoustic Emission"
"Tinnitus, Tensor Palatini Induced"
"Tinnitus, Tensor Tympani Induced"
Pulsatile Tinnitus
Malignant neoplasm tonsil
Pill Rolling Tremor
"Tremor, Semirhythmic"
Genitourinary Cancer
Cancer of Urinary Tract
Vertebrobasilar Dolichoectasia
Bilateral Vocal Cord Paresis
"Paralysis, Unilateral, Vocal Cord"
Partial Paralysis (Paresis) Vocal Cords
"Encephalitis, West Nile Fever"
West Nile Fever Meningitis
West Nile Fever Meningoencephalitis
West Nile Fever Myelitis
CADASIL Syndrome
Benign Supratentorial Neoplasms
"Cancer, Supratentorial"
Primary Supratentorial Neoplasms
Zellweger-Like Syndrome
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
"Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal"
"Ataxia with Lactic Acidosis, Type I"
Hereditary Autosomal Dominant Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia
"X-Linked, Spastic Paraplegia, Hereditary"
Adult Acute Lymphocytic Leukemia
Intracranial Arachnoid Cysts
Semilobar Holoprosencephaly
"Central Nervous System Neoplasms, Primary"
"Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related"
"Toxoplasmosis, Central Nervous System"
Neurotoxoplasmosis
Carotid Artery Plaque
Carotid Ulcer
Common Carotid Artery Stenosis
External Carotid Artery Stenosis
Cryptogenic Partial Complex Epilepsy
"Epilepsy, Symptomatic, Partial Complex"
"Epilepsy, Anterior Fronto-Polar"
"Epilepsy, Orbito-Frontal"
"Human Transmissible Spongiform Encephalopathies, Inherited"
Recurrent Low Back Pain
Mitochondrial Diseases
"Nemaline Myopathy, Autosomal Dominant"
"Nemaline Myopathy, Autosomal Recessive"
"Canavan Disease, Familial Form"
"Canavan Disease, Neonatal"
"Canavan Disease, Sporadic Form"
"Canavan Disease, Infantile"
"Canavan Disease, Juvenile"
Machado-Joseph Disease Type I
Machado-Joseph Disease Type II
Machado-Joseph Disease Type III
Machado-Joseph Disease Type IV
Lymphangioleiomyomatosis
Cerebral Primitive Neuroectodermal Tumor
Basal Cell Cancer
"Ganglioglioma, Intracranial"
Malignant Squamous Cell Neoplasm
Peripheral Nerve Sheath Neoplasm
Malignant Peripheral Nerve Sheath Tumor
Perineurioma
Multiple Hemangioblastomas
Post-Traumatic Vegetative State
Minimally Conscious State
"Hypokinesia, Antiorthostatic"
Primary Progressive Nonfluent Aphasia
"Peroxisomal Dysfunction, General"
"Peroxisomal Dysfunction, Multiple"
"Peroxisomal Dysfunction, Single"
Anterior Ischemic Optic Neuropathy
Posterior Ischemic Optic Neuropathy
"Inclusion Body Myopathy, Sporadic"
Adult Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy
"Intracranial Hypotension, Essential"
"Intracranial Hypotension, Secondary"
"Degenerative Diseases, Spinal Cord"
Lenticulostriate Vasculopathy
"Metabolic Disorder, Central Nervous System, Acquired"
"Brain Diseases, Metabolic, Acquired"
"Hyperglycinemia, Nonketotic, Type III"
Nonketotic Hyperglycinemia
"Argininosuccinic Acid Synthetase Deficiency Disease, Partial"
"Argininosuccinic Acid Synthetase Deficiency, Complete"
Carbamoyl-Phosphate Synthase I Deficiency Disease
"Hypersomnolence, Idiopathic"
Advanced Sleep Phase Syndrome
Non-24 Hour Sleep-Wake Disorder
Shift-Work Sleep Disorder
Upper Airway Resistance Sleep Apnea Syndrome
Sleep Bruxism
REM Sleep Behavior Disorder
Nocturnal Myoclonus Syndrome
Atypical Inclusion-Body Disease
Familial Progressive Myoclonic Epilepsy
"Myoclonic Epilepsies, Progressive"
Action Myoclonus-Renal Failure Syndrome
Biotin-Responsive Encephalopathy
Dentatorubral-Pallidoluysian Atrophy
May-White Syndrome
Lafora Disease
"Lafora Body Disease, Late Onset"
Unverricht-Lundborg Syndrome
"Reflex Epilepsy, Audiogenic"
"Intracranial Hematoma, Traumatic"
"Coma, Post-Traumatic, Prolonged"
"Carotid Artery, Internal, Dissection"
Carotid Pseudoaneurysm
"Septic Phlebitis, Sagittal Sinus"
Sagittal Sinus Thrombophlebitis
"Gait Disorder, Sensorimotor"
"Gait Disorders, Neurologic"
"Gait, Frontal"
"Gait, Widebased"
"Gait Ataxia, Sensory"
Gait Ataxia
Middle Cerebral Artery Embolus
Left Middle Cerebral Artery Infarction
"Embolic Infarction, Middle Cerebral Artery"
"Thrombotic Infarction, Middle Cerebral Artery"
Right Middle Cerebral Artery Infarction
"Heavy Metal Poisoning, Nervous System"
Arsenic Encephalopathy
Arsenic Induced Polyneuropathy
Mercury Encephalopathy
Mad Hatter Disease
Mercurial Neuroanesthenia
Mercury Psychosis
"Lead Poisoning, Nervous System"
"Lead Poisoning, Nervous System, Adult"
MPTP-Induced Degeneration of the Striatum
"Alcohol-Induced Disorders, Nervous System"
Alcohol Withdrawal-Induced Major Motor Seizure
"Status Epilepticus, Alcohol Withdrawal-Induced"
"Heredodegenerative Disorders, Nervous System"
Autoimmune Diseases of the Nervous System
"Immune Disorders, Nervous System"
"Vasculitis, Central Nervous System"
Primary CNS Vasculitis
"Myasthenic Syndromes, Congenital"
"Congenital Myasthenic Syndromes, Postsynaptic"
"Congenital Myasthenic Syndromes, Presynaptic"
"Myasthenic Syndromes, Congenital, Slow Channel"
"Brain Stem Neoplasms, Primary"
Medullary Neoplasms
Mesencephalic Neoplasms
Pontine Tumors
Posterior Fossa Hemorrhage
"Vasospasm, Intracranial"
"Tic, Gestural"
"Tic, Transient"
"Tic, Motor"
"Tic, Vocal"
Vestibular Neuronitis
Paraneoplastic Encephalomyelitis
"Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated"
Adult Pelizaeus-Merzbacher Disease
"Pelizaeus-Merzbacher Disease, Atypical"
Classic Pelizaeus-Merzbacher Disease
"Pelizaeus-Merzbacher Disease, Transitional"
Cockayne-Pelizaeus-Merzbacher Disease
Acquired Neuromyotonia
Median Neuropathy
"Neuralgia-Neuritis, Sciatic Nerve"
Sciatic Nerve Palsy
Neuromuscular Junction Diseases
Central Core Myopathy (disorder)
Anterior Circulation Brain Infarction
"Brain Infarction, Posterior Circulation"
"Venous Infarction, Brain"
Brain Infarction
Acute Cerebrovascular Accidents
"Lymphoma, Lymphocytic, Intermediate"
"Multiple Sclerosis, Primary Progressive"
"Multiple Sclerosis, Secondary Progressive"
"Multiple Sclerosis, Relapsing-Remitting"
Hypocatalasemia
Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Parkinsonism
Autosomal Recessive Parkinsonism
"Parkinsonism, Experimental"
Familial Juvenile Parkinsonism
"Parkinsonism, Juvenile"
"Brain Diseases, Metabolic, Inherited"
"Brain Diseases, Metabolic, Inborn"
Central Nervous System Inborn Metabolic Diseases
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 7
Spinal Cord Vascular Diseases
Spinal Cord Ischemia
Intracranial Arterial Diseases
Intracranial Thrombosis
Brain Thrombosis
Chronic Daily Headache
"Headache, Intractable"
Central Nervous System Vascular Malformations
Dural Arteriovenous Fistula
"Hemangioma, Cavernous, Central Nervous System"
"Cavernous Hemangioma, Extracerebral"
"Cavernous Hemangioma, Intracerebral"
Bardet-Biedl Syndrome
Ballismus
Adult-Onset Dystonias
Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Torsion Dystonias
Autosomal Dominant Familial Dystonia
Autosomal Recessive Familial Dystonia
Childhood Onset Dystonias
"Dystonia, Primary"
"Dystonia, Secondary"
"Dystonias, Sporadic"
Familial Dystonia
Pseudodystonia
"Dyskinesias, Paroxysmal"
Lyme Neuroborreliosis
Rathke Cleft Cysts
Muscle Disease Manifestations
Neuromuscular Manifestations
"Impairment, Light Touch Sensation"
Pain Sensation Diminished
Pinprick Sensation Diminished
Position Sense Disorders
Proprioceptive Disorders
Thermal Sensation Disorders
Somatosensory Disorders
Congenital Structural Myopathy
"Hypersomnia, Post-Traumatic"
Adjustment Sleep Disorder
Environmental Sleep Disorder
Limit-Setting Sleep Disorder
Nocturnal Eating-Drinking Syndrome
"Sleep Disorders, Extrinsic"
Hypoxic-Ischemic Encephalopathy
Anoxic-Ischemic Encephalopathy
"Anoxia-Ischemia, Brain"
"Anoxia-Ischemia, Cerebral"
"Hypoxia-Ischemia, Brain"
Focal Clonic Seizures
Focal Tonic Seizures
"Lupus Vasculitis, Central Nervous System"
Lupus Meningoencephalitis
Neuropsychiatric Systemic Lupus Erythematosus
Lewy Body Disease
Embryo Death
Embryo Loss
"Atrophy, Muscular, Spinobulbar"
Myotonia Fluctuans (disorder)
Cerebral arterial thrombosis
"Subarachnoid Hemorrhage, Intracranial"
Congenital omphalocele
HEART PROBLEM
Hyperlactatemia
Skeletal malformation
"Chromosome 1, monosomy 1p"
trisomy 2
"Chromosome 2, trisomy 2p"
"Chromosome 2, trisomy 2q"
"Chromosome 3, monosomy 3p"
"Chromosome 3, trisomy 3q"
"Chromosome 4, trisomy 4q"
Tetrasomy 5p
"Chromosome 6, monosomy 6q"
Chromosome 7 ring syndrome
"Chromosome 7, trisomy 7p"
"Chromosome 7, trisomy 7q"
Recombinant chromosome 8 syndrome
"Chromosome 8, monosomy 8p"
"Chromosome 8, trisomy 8p"
"Chromosome 8, trisomy 8q"
CHROMOSOME 9p DELETION SYNDROME
"Chromosome 9, tetrasomy 9p"
KLEEFSTRA SYNDROME 1
"Chromosome 10, monosomy 10p"
"Chromosome 10, monosomy 10q"
Jacobsen Distal 11q Deletion Syndrome
chromosome 11q duplication syndrome
Chromosome 12 ring
"Chromosome 12, 12p trisomy"
"Chromosome 12, trisomy 12q"
Ring chromosome 15 syndrome
Trisomy 15
"Chromosome 15q, trisomy"
"Chromosome 15q, tetrasomy"
Smith-Magenis syndrome
"Chromosome 17, trisomy 17p"
"Chromosome 18, tetrasomy 18p"
Chromosome 21 monosomy
Monosomy 22
Complex Glycerol Kinase Deficiency
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 4"
Allan-Herndon-Dudley syndrome (AHDS)
Cleft Palate-Lateral Synechia Syndrome
"Coloboma, cleft lip-palate and mental retardation syndrome"
Cantu syndrome
CONOTRUNCAL ANOMALY FACE SYNDROME
COWCHOCK SYNDROME
Winter Shortland Temple syndrome
"Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type"
"Deafness, congenital onychodystrophy, recessive form"
fontaine syndrome
Digitorenocerebral Syndrome
AMINOPTERIN SYNDROME SINE AMINOPTERIN
Filippi syndrome
Galloway Mowat syndrome
Corpus callosum agenesis neuronopathy
MASA SYNDROME (disorder)
Chylomicron retention disease
Hereditary macular epidermolysis bullosa
"STRIATONIGRAL DEGENERATION, INFANTILE (disorder)"
JACKSON-WEISS SYNDROME
Multiple non-ossifying fibromatosis
Johnson neuroectodermal syndrome
Juberg-Marsidi syndrome
Kabuki make-up syndrome
Krause-Kivlin syndrome
Zimmerman Laband syndrome
"Microphthalmia, syndromic 1"
SPASTIC PARAPLEGIA 23 (disorder)
Lowry Wood syndrome
Lujan Fryns syndrome
"ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION"
Malouf syndrome
Malpuech facial clefting syndrome
MARDEN-WALKER SYNDROME
Marinesco-Sjogren-like syndrome (MSLS)
Martsolf syndrome
Gurrieri Sammito Bellussi syndrome
Mercaptolactate-Cysteine Disulfiduria
Oculopalatoskeletal syndrome
microcephaly-digital anomalies syndrome
Oculodigitoesophagoduodenal syndrome
"MICROPHTHALMIA, SYNDROMIC 7"
MOHR-TRANEBJAERG SYNDROME
Myhre syndrome
Najjar syndrome
Nance-Horan syndrome
"LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE"
Odontoonychodermal dysplasia
Blepharophimosis syndrome Ohdo type
Opitz trigonocephaly syndrome
Orofaciodigital syndrome 9
"Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor"
Pitt-Rogers-Danks Syndrome
Primrose syndrome
Proud Syndrome
AICARDI-GOUTIERES SYNDROME 1
Ramon Syndrome
Renpenning syndrome 1
3C syndrome
Acrocallosal Syndrome
Scott Syndrome
"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1"
Mental retardation Smith Fineman Myers type
"MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE"
Spondyloperipheral dysplasia short ulna
STUVE-WIEDEMANN SYNDROME
Teebi syndrome
Acromelic frontonasal dysplasia
"Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence"
Waisman syndrome
Wieacker-Wolff syndrome
Wittwer syndrome
"SPINOCEREBELLAR ATAXIA, X-LINKED 1"
Atkin syndrome
"MENTAL RETARDATION, X-LINKED 2 (disorder)"
"MENTAL RETARDATION, X-LINKED 3"
"Mental Retardation, X-Linked 9"
"MENTAL RETARDATION, X-LINKED 12"
"MENTAL RETARDATION, X-LINKED 14"
"MENTAL RETARDATION, X-LINKED 15"
"MENTAL RETARDATION, X-LINKED 18"
"Mental Retardation, X-Linked 19"
"MENTAL RETARDATION, X-LINKED 20"
"MENTAL RETARDATION, X-LINKED 23"
Bohring syndrome
"Mental Retardation, X-Linked 30"
"MENTAL RETARDATION, X-LINKED 31"
"MENTAL RETARDATION, X-LINKED 34 (disorder)"
"MENTAL RETARDATION, X-LINKED 35"
"MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)"
"Mental Retardation, X-Linked 47"
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
"DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES"
Brown-Vialetto-Van Laere Syndrome 1
Brunner Syndrome
Carnevale syndrome
Acromegaloid facial appearance syndrome
Visual Pathway Glioma
Refractory cytopenia with multilineage dysplasia
Localized Malignant Neoplasm
Newly Diagnosed Childhood Ependymoma
recurrent childhood ependymoma
Childhood Testicular Germ Cell Tumor
Childhood Ovarian Germ Cell Tumor
"Chromosome 18, trisomy 18q"
Branchio-skeleto-genital syndrome
Schizophrenia and related disorders
Acute cerebrovascular disease
alcohol-related liver disease
Pancreatic disorders (not diabetes)
Cystitis and urethritis
preeclampsia and eclampsia
Cleft palate without cleft lip
Cleft Lip with or without Cleft Palate
Malignant Pleural Mesothelioma
Kidney problem
Chromosome 11p deletion syndrome
Oculo-dento-digital syndrome
Circadian Rhythm Disorders
Stage I Endometrial Carcinoma
Metastatic Endometrial Carcinoma
Expressionless face
Serum triglycerides increased
respiratory system cancer
upper GI cancer
endocrine system cancer
"Viral hepatitis, type G"
Alcohol Related Neurodevelopmental Disorder
impaired motor coordination
psychological distress
liver scarring
neurobehavioral problems
Thrombocytosis
"Acute promyelocytic leukemia, in remission"
Rupture of bladder
Acanthoma
fever with rash
Blood autoimmune disorders
Viral keratitis
facet joint degeneration
Nasal allergies
internal lesion
Low IQ
Nausea in pregnancy
Afterbirth pain
Nocturnal polyuria
female puberty
Schizophrenic psychoses
male puberty
Spots on skin
fluid retention in lung
hypertensive nephropathy
Hypospadias
Nerve root irritation
Sinus pressure
"Subfertility, Male"
circulation problem
Hearing disability
neurological disability
musculoskeletal infection
endocrine carcinoma
skin damage
peri-menopausal
caruncle
charmed
Bacterial diarrhoea
abnormal taste
Skin blotches
psychological disturbance
Ventricular failure
Feeling nervous
Gluten sensitivity
Neurological infection
Dry cough
Adenomatous polyp of colon
radiating back pain
premalignant lesion
Infection caused by Helicobacter pylori
Non-diabetic hyperglycemia
hereditary anemia
congenital metabolic disorder
Frequent falls
Adult Acquired Toxoplasmosis
Abnormality of blood and blood-forming tissues
Smoker's lung
Pelvic pain female
cardiovascular problem
Localized skin lesion
Degeneration of spine
digestive problem
In situ cancer
Malignant neoplasm of larnyx stage IV
Carcinoma in situ of uterine cervix
Infections of musculoskeletal system
Pseudocoarctation
Learning problems
Hypoglycemic shock
Metabolism and nutrition disorders
General disorders and administration site conditions
Anxiety disorders and symptoms
Glaucoma and ocular hypertension
Haematopoietic neoplasms (excl leukaemias and lymphomas)
Prostatic disorders (excl infections and inflammations)
Sleep Disorders
Hepatic metabolic disorders
Enterococcal infection
Infection caused by Francisella
Neisseria infection
Pneumocystis Infections
Adenoviral infections
Influenza viral infections
Gastrointestinal vascular malformation
Peritoneal Infection
Bone and joint infections
Pregnancy associated hypertension
"Blood Coagulation Disorders, Inherited"
Congenital connective tissue disorder
Lower respiratory tract infection viral
Necrosis NEC
Placental abnormalities (excl neoplasms)
Respiratory Distress Syndrome
Gender disorders
Immune Hemolytic Anemia
Visual impairment and blindness (excl colour blindness)
Abnormal muscle tone
Speech and language abnormalities
Extranodal marginal zone B-cell lymphomas (low grade B-cell)
Benign chondrogenic neoplasm
21-hydroxylase deficiency
Vulval cancer metastatic
Congenital rubella infection
"17,20-desmolase deficiency"
Leukemic Phase of Non-Hodgkin's Lymphoma
Sickle Cell Dactylitis
Completed Suicide
Perinatal brain damage
Cervical cord compression
Pulmonary Alveolar Hemorrhage
Colitis aggravated
Arteriopathic disease
Atherosclerosis obliterans
Ventricular hypoplasia
Congenital cerebellar ataxia
Progressive cerebellar degeneration
Decreased glomerular filtration rate
Uterine ischaemia
Decreased LDL cholesterol concentration
Nail abnormality
Renal tubular atrophy
Penis carcinoma
Late onset hypogammaglobulinemia
Chronic infection with HIV
Bipolar I disorder
Mobius II syndrome
Exacerbation of anxiety
Pseudo-Bartter syndrome
Endocarditis enterococcal
Immunodeficiency congenital
Localized swelling
Abnormal mean corpuscular volume
Oestrogen deficiency
Kidney infection acute
Secondary hyperlipidemia
Neutrophil count decreased
Solvent sensitivity
Staphylococcal abscess
Fistula of genitourinary tract
Invasive carcinoma of breast
Hypocomplementaemia
Catabolic state
Diabetic Cardiomyopathies
Oral mucosal blisters
Pain worsened
Corneal calcification
Inflammatory carcinoma of breast stage IV
Abnormal visual field test
Allergy to sting
Increased total iron binding capacity
Tumor pain
Distal ileal obstruction syndrome
Diabetic retinal oedema
Diabetic end stage renal disease
Streptococcal necrotizing fasciitis
HIV-2 infection
Subcutaneous hemorrhage
Insulin-resistant diabetes mellitus
Ruptured Appendicitis
Pseudomonas aeruginosa infection
Thrombosis of aorta
Feeding Disorders
Metastases to adrenals
Cognitive deterioration
Hepatobiliary neoplasm
Metastases to abdominal cavity
Bacterial keratitis
Gastrointestinal angiodysplasia
Pneumonia due to Gram negative bacteria
Pseudoprecocious puberty
Congenital urinary tract obstruction
Basal ganglion degeneration
Head deformity
Bacillus infection
Infection due to anaerobic bacteria
Alice in Wonderland Syndrome
Insulin autoimmune syndrome
Lip discoloration
Chronic proliferative glomerulonephritis
Fatty acid deficiency
Gastric mucosal lesion
Vascular fragility
Myelosuppression
Secretory adenoma of pituitary
Tertiary hypothyroidism
Muscular sarcoidosis
Post surgical diarrhea
Infection by human herpesvirus 6
Myopericarditis
Trichomegaly
Neonatal infection
Retinal Dystrophies
Advanced sleep phase
Delayed sleep phase
Colorectal cancer recurrent
Oesophageal carcinoma recurrent
Stage I Esophageal Squamous Cell Carcinoma
Stage II Esophageal Squamous Cell Carcinoma
stage IV pancreatic cancer
Pancreatic carcinoma non-resectable
Pancreatic carcinoma recurrent
Pancreatic carcinoma resectable
Bile duct cancer resectable
Resectable Malignant Liver Neoplasm
Hepatoblastoma non-resectable
Recurrent Chronic Lymphoid Leukemia
Adult T-cell lymphoma/leukaemia refractory
Anaplastic large cell lymphoma T- and null-cell types refractory
Angioimmunoblastic T-cell lymphoma refractory
Mycosis fungoides refractory
Recurrent Non-Hodgkin Lymphoma
Non-Hodgkin's lymphoma refractory
Non-Hodgkin's lymphoma transformed recurrent
Pleural mesothelioma malignant advanced
Angiosarcoma non-metastatic
Benign Schwannoma
Pineal germinoma
Retinoblastoma bilateral
Retinoblastoma unilateral
Rhabdoid Tumor of the Kidney
Mucinous endometrial carcinoma
Papillary serous endometrial carcinoma
Metastatic Penile Cancer
Lung adenocarcinoma recurrent
"Adenocarcinoma of lung, stage I"
"Adenocarcinoma of lung, stage III"
"Adenocarcinoma of lung, stage IV"
Recurrent Lung Carcinoma Cell Type Unspecified
Stage IV Lung Cancer AJCC v7
Peripheral neuroepithelioma of bone
Chondrosarcoma metastatic
Chondrosarcoma recurrent
Alveolar soft part sarcoma metastatic
Epithelioid sarcoma non-metastatic
Extraskeletal Osteosarcoma
Fibrosarcoma metastatic
Metastatic leiomyosarcoma
Primary leiomyosarcoma
Recurrent Rhabdomyosarcoma
Synovial sarcoma metastatic
Synovial sarcoma non-metastatic
Undifferentiated (Embryonal) Sarcoma
Refractory Hodgkin Lymphoma
B-cell lymphoma refractory
Small Lymphocytic Lymphoma
B-cell small lymphocytic lymphoma recurrent
Diffuse large B-cell lymphoma recurrent
Diffuse large B-cell lymphoma refractory
Mantle cell lymphoma refractory
Monocytoid B-cell lymphoma
B Lymphoblastic Lymphoma
Placental Choriocarcinoma
Malignant Testicular Germ Cell Tumor
Eating disorder symptom
Food hoarding
Markedly reduced food intake
Sleep attack
Electrocardiogram change
Renin decreased
Abnormal platelet function
Abnormal platelet morphology
Decreased mean corpuscular volume
Abnormal basophil morphology
Abnormal eosinophil morphology
Leukemia secondary
Mental status changes
Multiple sclerosis relapse
Myotonia aggravated
Fat redistribution
Endothelial dysfunction
Increased serum zinc
Functional diarrhoea (due to spastic colon)
Influenza (epidemic)
Lumbar spine degeneration
Neurotic personality
Alcoholic brain damage
Circadian dysrhythmia
Hepatic cancer metastatic
Opium addiction
Pulmonary alveolitis
Rhesus antibodies (anti-D)
bilateral testicular swelling by history (symptom)
Transient hemiparesis
Infection caused by Trichinella
Asthma aspirin-sensitive
Cholesterol gallstones
Single vessel disease
Triple vessel disease
Post MI
Aneurysm of ascending aorta
Aneurysm of aortic arch
Bilateral renal artery stenosis
Budd-Chiari Syndrome
Primary erythrocytosis
Undifferentiated type acute leukemia
Acute GVH disease
Calcium pyrophosphate arthropathy
Seronegative juvenile chronic arthritis
Systemic juvenile chronic arthritis
Posterior cerebral artery occlusion
Broad-based gait
Subclinical diabetes
Sarcoma of skin
Retinol Deficiency
Allergy to fish
Stress induced hyperglycaemia
Autistic behavior
Childhood aggression
Scirrhous gastric carcinoma
Antral carcinoma
"Hyperbilirubinemia, Neonatal"
Feeling Sick
Acute anaphylaxis
Chronic candidiasis
Chronic open angle glaucoma
Endometriosis related pain
Bilateral glaucoma
Gross obesity
Hyponatraemic
Persistent dry cough
Postinfarction
Arthritic pain
Unwell
Bi-ventricular failure
Patellar subluxation
Thrombocytopenic purpura
Leishmania donovani disease
Leishmania tropica disease
Late onset epilepsy
Groin nodes
Abnormality of the pinna
Diabetic neovascularization
Pituitary hormone deficiency
Granulocyte count
Upper gastrointestinal symptoms
Acute schizophrenia
Floppy
Abnormality of thyroid physiology
Specific allergy (drug)
Vaginal yeast
Sickle cell-beta^+^-thalassemia
Hb-SD
Infection in solid organ transplant recipients
Infection in the elderly
JC virus infection
Vaccinia virus infection
Legionella pneumophila pneumonia
Staphylococcus aureus abscess
Staphylococcus aureus endocarditis
Staphylococcus Aureus Pneumonia
Abnormal circulating aldosterone
Decreased circulating aldosterone level
Elevated circulating parathyroid hormone level
Influenza A virus infection
Influenza B virus infection
Mumps virus infection
vascular aneurysm
"Stridor, Congenital"
Vasopressin low
Breast adenocarcinoma
Nasal discomfort
angina symptom
Mycobacterium tuberculosis meningitis
Plasmodium ovale infection
Plasmodium vivax infection
Addicted to heroin
Addicted to cocaine
Neuroparalysis
Rigidity of limbs
Taste salty
Taste sour
Taste sweet
Optic nerve oedema
Posterior subcapsular cataract
Dyschromatopsia
Vitiligo vulgaris
Facial telangiectasia
Skin keratosis
Joint swelling inflammatory
Insulin hypoglycemia
Neuro-Behcet disease
Hypomnesia
Impulsive aggression
Unrest
Spot pigmented
Rosacea-like dermatitis
Reticulocytopenia
Infection pyogenic
General discomfort
Deafness labyrinthine
Finger spasticity
Pain after application
Hyperthymic state
Talkativeness
Oedema vascular
Renal function disorder
DDS syndrome
Inherited hearing loss
Non-seminoma testicular cancer
Hair Follicle Neoplasm
Neonatal intestinal obstruction
Idiopathic achalasia of esophagus
Hypotonic dehydration
Fulminant Wilson's disease
Acute fulminant hepatitis
Leishmania mexicana disease
Leishmania infantum disease
Vaginal Yeast Infections
BCG infection
Leydig Cell Hypoplasia
Partial androgen resistance
Distal colitis
Colonic dysfunction
Advanced chronic liver disease
Cholestatic liver disease
Drug-Induced Liver Disease
Fulminant hepatitis B
ABO incompatibility
Disseminated leishmaniasis
Mottled pigmentation
Split ends
Loss of skin elasticity
Dairy intolerance
Adolescent antisocial behaviour
Lactose intolerant
Freezing of gait
Refeeding Syndrome
Retinoic acid syndrome
Medullary carcinoma of breast
Mucinous breast cancer
"Malignant melanoma, metastatic"
Anxious personality
Anxiety symptoms
Inappropriate crying
Loss of memory ability
Psychogenic coma
Aloof
Bilateral optic neuritis
Allergic rhinoconjunctivitis
Rhinoconjunctivitis
Visual phenomena
Lymphoplasmacytoid immunocytoma
Lobular Neoplasia
Noninvasive ductal carcinoma
Stage IV Colon Carcinoma
Adenocarcinoma of the cardia
Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma resectable
Stage IV Rectal Carcinoma
Periampullary carcinoma NOS
Recurrent Hepatocellular Carcinoma
B-immunoblastic lymphoma (Kiel Classification)
Centrocytic (mantle cell) lymphoma (Kiel classification)
Precursor B-lymphoblastic lymphoma/leukemia
Precursor B-lymphoblastic lymphoma stage II
Mycosis fungoides/Sezary syndrome NOS
"Epithelioid mesothelioma, malignant"
Stage IV Renal Cell Cancer
Endometrioid adenocarcinoma metastatic
Borderline ovarian tumour
Adenocarcinoma of the prostate metastatic
Stage IV Laryngeal Carcinoma
Adenocarcinoma of lung stage IIIB
Recurrent lung cancer
Stage III Lung Cancer
Dedifferentiated chondrosarcoma
Multiple trichoepitheliomas
Superficial basal cell carcinoma
Cholangiocarcinoma non-resectable
Localized Ewing Sarcoma
Cold symptoms
Recurrent respiratory tract infections
Neck discomfort
Afebrile seizure
AGEP
Larynx carcinoma recurrent
Stage III Carcinoma of Stomach
Hepatoma resectable
dmac
Sporothrix schenckii Infection
parathyroiditis
Female Virilization
Autosomal recessive agammaglobulinemia
Acute intravascular hemolysis
progressive anemia
Thrombopathy
High-oxygen-affinity hemoglobin
Polycythemia due to fall in plasma volume
Polycythemia due to high altitude
Schizophreniform psychosis NOS
Adult attention deficit hyperactivity disorder
(non-specific) purulent meningitis
Parkinsonism or Parkinson's disease NOS
Idiopathic Parkinsonism or Parkinson's disease
Primary Parkinsonism or Parkinson's disease
Mitral disease
Chronic myocarditis
Obstructive bronchitis
asthma with copd
Segmental Ileitis
Postoperative peritoneal adhesions
Renal thrombosis
lupus erythematodes
Chronic graft-versus-host disease
postoperative stroke
"Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM"
"Hereditary disturbances in tooth structure, NEC in ICD9CM_2014"
Pancolitis
"Congenital malformations of palate, not elsewhere classified in ICD10CM"
"Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM"
Neonatal hyperthyroidism
"Adverse effects, not elsewhere classified"
Dyscalculia
Carditis
Beta thalassemia minor
Hyperkeratosis
neuroinfections
snake phobia
positive and negative symptoms
Psychotic symptom
Reading Disabilities
social stress
Subcortical lesions
Systolic Pressure
winter depression
facial features
Sarcopenia
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
Posturing
Infectious Lung Disorder
Histiocytosis haematophagic
Cardiotoxicity
Enzyme inhibition disorder
Muscle fibrosis
Pelvic Organ Prolapse
Heparin-induced thrombocytopenia type II
Generalized tonic-clonic seizures with focal onset
Pituitary enlargement
Schimke immunoosseous dysplasia
Tooth Infection
Oral fungal infection
Acute Generalized Exanthematous Pustulosis
Hypoglycemic seizures
Lymphocytic dermatitis
Epiduritis
Retinal toxicity
Painful scar
AIDS related complication
Osteopenia periarticular
Pharyngotonsillitis
Neutropenic sepsis
Short phalanx of finger
"Hematoma, Epidural, Spinal"
Food aversion
Respiratory tract infection viral
Peripartum cardiomyopathy
Decreased erythroid precursor production
Increased serum serotonin
Infantile asthma
Peritonsillitis
Iris hyperpigmentation
Neonatal neuroblastoma
Gonarthrosis
Vertebral lesion
Asthma chronic
Non-ischemic cardiomyopathy
Sigmoid polyp
Candidemia
Heyde's syndrome
Chronic synovitis
Carcinomatous ascites
Lymphohistiocytosis
Treatment related secondary malignancy
Anteroseptal infarction
Cervical Melanoma
Cytomegalovirus viremia
Gastrointestinal cramps
Hemicrania
"Sleep Disorders, Circadian Rhythm"
Distorted hearing
Askin's tumor
Cerebral Arteriosclerosis
Cerebral Embolism and Thrombosis
Arteriolosclerosis
Intraepithelial Neoplasia
Internal hydrocephalus
"beta Thalassemia, heterozygous"
Beta thalassemia trait
Cardiomyopathies
Coronary artery ectasia
Diffuse panbronchiolitis
Electrocardiogram J wave
Peripheral demyelination
Posterior Leukoencephalopathy Syndrome
Sister Mary Joseph's Nodule
lung cavity
Mucosal neuromas
pathergy
Abnormality of the tongue
Gastric hyperplastic polyp
Disproportionate short stature
Proportionate short stature
Analbuminemia
Increased urinary urate
Erdheim-Chester Disease
6-pyruvoyl-tetrahydropterin synthase deficiency
Glycogen Storage Disease Type IIb
Dent's disease
Ceruloplasmin deficiency
Pituitary Dwarfism Type 3
SHORT syndrome
Conjunctivochalasis
Overactive Bladder
Growth failure
Hereditary Papillary Renal Carcinoma
Stromal Neoplasm
Cardiac troponin I measurement
Childhood Malignant Testicular Germ Cell Tumor
Posterior Choroidal Artery Infarction
Psychogenic Inversion of Circadian Rhythm
"Carcinoma, Pancreatic Ductal"
"Polycystic Kidney, Type 1 Autosomal Dominant Disease"
Monckeberg Medial Calcific Sclerosis
Experimental Lung Inflammation
Upper Aerodigestive Tract Neoplasms
Chlamydophila Infections
Becker Muscular Dystrophy
Hajdu-Cheney Syndrome
Female sterility
Male sterility
"Optic Atrophy, Hereditary, Leber"
Cerebral Ischemia
Hypersomnia
"Epilepsy, Myoclonic, Infantile"
Sleeplessness
"Arteriovenous Malformations, Cerebral"
Transient Cerebral Ischemia
Vegetative State
Nerve Entrapment
Tetanilla
"Spina Bifida, Open"
"Aphasia, Expressive"
Mental deficiency
Neurofibromatosis 3
Pineocytoma
"Pupillary Functions, Abnormal"
Progressive Muscular Atrophy
Acro-Osteolysis
Cerebral Aneurysm
ovarian neoplasm
Genomic Instability
Dissection of renal artery
Impatience
Sudden onset of sleep
Enterochromaffin cell hyperplasia
"Upper Extremity Deep Vein Thrombosis, Primary"
Malignant pleurisy
Tumour ulceration
Oropharyngeal candidiasis
Protein C measurement
Protein S measurement
Lupus-like syndrome
Calcification of mitral valve
Engraftment syndrome
Cytokine storm
Vitamin D measurement
Decreased transferrin saturation
Anti-neutrophil cytoplasmic antibody positive vasculitis
Cytolytic hepatitis
Hyperfibrinogenemia
Myeloblastoma
Ascites infection
Pleural Infection
Tonic clonic movements
Abdominal wall infection
Abulia
Renal cancer metastatic
Metastatic renal carcinoma
Thickened Achilles tendon
Cholestatic hepatic disorder
Leukaemia recurrent
Left ventricular overload
Radiation-induced liver disease
Idiopathic thrombocytopenia
Fundic gland polyp
Hepatic artery stenosis
Congenital neuropathy
Photodermatosis
Hypercapnic encephalopathy
Pisa syndrome
Psoriatic plaque
Emergence Delirium
Microsatellite Instability
Sluggishness
Developmental reading disorder
Overriding toe
Autoimmune thyroiditis
"Carcinogenesis, Radiation"
Environment-Related Malignant Neoplasm
Insulin Sensitivity
Neoplasm diagnosis
Ischemia of kidney
skin irritant
Myocardial hypoxia
hormone related neoplasm/cancer
Multiple disability
Breast Carcinoma Metastatic in the Skin
Testicular Feminization
Vitamin B 6 Deficiency
Metastatic Prostate Carcinoma
HIV-1-Associated Cognitive Motor Complex
Brain Embolism and Thrombosis
Chondroma
Eczema Herpeticum
Polyradiculitis
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Brain Thrombus
Cerebral Thrombus
"Familial Amyloid Polyneuropathy, Type IV"
Blastoma
Rectal pouch
Pancreatic Duct Stenosis
pancreatitis as a complication
infection as a complication
precancerous lesions
angioectasia
Diagnosis for colon
"Ulcerative colitis, quiescent"
Cholecystolithiasis
Vascular inflammations
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
Parkinson's disease and parkinsonism
Myasthenias
Atopic disorders
Ischemic stroke
Venous aneurysm
Primary Graft Dysfunction
Gastritis caused by bacterium
Malignant neoplasm progression
Anal infection
Corneal defect
Acute Coronary Syndrome
Gastrointestinal tract adenoma
Idiopathic neutropenia
Ovarian fibrosis
Hepatic siderosis
Hepatic cyst infection
Splenic Infection
Portal vein stenosis
Pulmonary sepsis
Pancreatic Infection
Leukoaraiosis
Bone marrow toxicity
Myelocytosis
Tracheomalacia
Primary infection NOS
Alloimmunisation
Intestinal adenocarcinoma
Ovarian adenocarcinoma
Sarcoma of peritoneum
"Nuchal bleb, familial"
Cytokine Release Syndrome
Femoral artery occlusion
Neuroborreliosis
Hemodynamic instability
Beta haemolytic streptococcal infection
Malignant syndrome NOS
Corneal striae
Carcinoma of peritoneum
Transfusion-Related Acute Lung Injury
Nephroangiosclerosis
Myocardial bridging
Periprosthetic osteolysis
Kaufman-McKusick syndrome
Myocardial reinfarction
Impaired insulin secretion
Cerebral hygroma
Secondary Adrenal Insufficiency
Convulsion in childhood
Borderline mental impairment
Oedematous pancreatitis
Hypertrophic pachymeningitis
Bone marrow dysplasia
Venoocclusive disease
Mitochondrial DNA mutation
Coronary Restenosis
Hydroxyprolinuria
Lymphangiosis carcinomatosa
Ocular discomfort
Cancer of lymph node
Hyperuricosuria
Adenocarcinoma of liver
Coronary spastic angina
Infusion-Related Reaction
Loss of cervical lordosis
Gastric candidiasis
Hypoplasia of the pituitary gland
Salivary gland carcinoma
Pulmonary failure
High weight
Gastrointestinal hypomotility
Rhinosinusitis
Bronchopulmonary infection
Blanching
Klebsiella pneumoniae infection
Hepatic impairment
Anemia due to blood loss
Systremma
Unilateral leg pain
Euthymia
Oxalate crystalluria
Flu symptoms
Primary hypogonadism
Nephrotoxic serum nephritis
fungus foot
Osteomyelofibrosis
Leukemic infiltration of skin
Congenital eye disorders (excl glaucoma)
Infection caused by Coxiella
Polyp of large intestine
Hospital acquired pneumonia
Candida sepsis
Congenital hypoplastic anemia
Delayed menarche
IIeocolitis
Gonadal Agenesis
Cervical Dystonia
Luft Disease
Porokeratosis of Mibelli
Hurthle Cell Tumor
Wheat Hypersensitivity
"Gonadal Dysgenesis, 46,XX"
Uniparental Disomy
"Cardiomyopathy, Hypertrophic, Familial"
Tauopathies
Spondylarthritis
Spondylarthropathies
Polyomavirus Infections
"Electron Transport Chain Deficiencies, Mitochondrial"
Oxidative Phosphorylation Deficiencies
Mitochondrial Respiratory Chain Deficiencies
Denys-Drash Syndrome
Frasier Syndrome
Disease due to Papilloma virus
Autosomal Chromosome Disorders
"Arthritis, Collagen-Induced"
Dysphasia
"Arthritis, Experimental"
Rheumatoid lung disease
Type 1 Duane Retraction Syndrome
Anoxia of brain
Secondary hyperthyroidism
Progressive multiple sclerosis
Bronchopulmonary disease
Drug Resistant Epilepsy
Drug-induced immune hemolytic anemia
Deformity of lower limb
Iris transillumination defect
Acquired haemophilia
Skeleton dysplasia
Kinsbourne Syndrome
Macrophage Activation Syndrome
Chromosome 17 trisomy
West Nile viral infection
Type II hypersensitivity
Immune reconstitution syndrome
Lipoprotein (a) measurement
Gait deviation
Calcification of the aorta
Gastrointestinal discomfort
Cardiac infection
Escherichia bacteraemia
Corneal thinning
Arterial fibrosis
Macroangiopathy
Placental dysplasia
Myolipoma
Radiculomyelopathy
Pancreatic enlargement
Increased mean platelet volume
Decreased mean platelet volume
Near sudden infant death syndrome
Slight temperature
Neonatal Early-Onset Sepsis
Vascular occlusion
Haemophilia A with anti factor VIII
Hereditary factor VIII deficiency disease without inhibitor
Hereditary factor IX deficiency disease without inhibitor
Gastroduodenal haemorrhage
Mosaic trisomy 8 syndrome
Superficial punctate keratopathy
Infection caused by Malassezia
Klebsiella oxytoca infection
Staphylococcus epidermidis infection
Campylobacter jejuni infection
Chlamydia pneumoniae Infections
Postoperative hip pain
Corneal crystalline deposits
Contralateral breast cancer
Peritoneal lesion
Cardiac fibroma
Thyroid cancer metastatic
BK virus infection
Lactescent serum
Pain during injection
Neonatal Late-Onset Sepsis
Late onset neonatal pneumonia
Macrophagic myofascitis
Infantile Sialic Acid Storage Disease
"Sialic Acid Storage Disease, Finnish Type (disorder)"
Hepatitis viral infections
Hereditary non-polyposis colorectal cancer syndrome
Intrauterine infection
Gastrooesophageal cancer
Transient psychosis
Panencephalitis
Abdominal Infection
Hepatic Infection
Cholestasis in newborn
Sensorimotor neuropathy
Gaze palsy
Tissue anoxia
Atypical benign partial epilepsy
Diabetic gastroenteropathy
Adenoviral hepatitis
Congenital cutis laxa
Multifocal micronodular pneumocyte hyperplasia
Apoptotic DNA damage
Connective tissue inflammation
Spinal cord paralysis
Bronchial dysplasia
Interferon gamma receptor deficiency
Thromboembolic stroke
Female sexual dysfunction
Male sexual dysfunction
Unresectable Hepatocellular Carcinoma
Aeromonas hydrophila infection
Mast cell aggregation
Small cell carcinoma of esophagus
Aggressive Systemic Mastocytosis
Tubular adenoma of colon
"Leukoplakia of oral mucosa, incl tongue"
Polyp of cecum
Paraneoplastic pemphigus
Granulomatous ileocolitis
Antral ulcer
Hypertonic dehydration
Loss of proprioception
Allergic keratoconjunctivitis
Peripheral artery dissection
Nuclear non-senile cataract
non-gonococcal urethritis (NGU)
Gastric infection
Gastrooesophageal heterotopia
Hepatic lymphoma
Anterior subcapsular cataract
Thyroid hyperplasia
Invasive Ductal Breast Carcinoma
Breakthrough Pain
Stage 4S neuroblastoma
Critical illness myopathy
"Heart Failure, Systolic"
Chronic systolic heart failure
"Heart Failure, Diastolic"
Persistent pulmonary hypertension
"Meningitis, Meningococcal, Serogroup A"
"Meningitis, Meningococcal, Serogroup B"
"Meningitis, Meningococcal, Serogroup C"
"Acquired Metabolic Diseases, Nervous System"
Gestational Trophoblastic Neoplasms
"Hemorrhagic Septicemia, Viral"
"Wasting Disease, Chronic"
Cutaneous Mastocytosis
Familial Acoustic Neuroma
"Neuroma, Acoustic, Bilateral"
"Schwannoma, Acoustic, Bilateral"
Embryo Disintegration
Plasma cell dyscrasia
Monoclonal Gammapathies
Water Stress
Posterior Tibial Tendon Dysfunction
Hammer Toe
"Meningitis, Meningococcal, Serogroup Y"
"Meningitis, Meningococcal, Serogroup W-135"
"Mental Retardation, X-Linked"
HIV-Associated Lipodystrophy Syndrome
Sclerocystic Ovaries
"Retinoschisis, Degenerative"
Malignant neoplasm of ovary
Cerebral Cavernous Hemangioma
Hypoxic Brain Damage
Sclerosing encapsulating peritonitis
Congenital long QT syndrome
Shunt infection
Abdominal sepsis
Wound sepsis
Multi-organ disorder
HIV disease progression
Stage IV Esophageal Squamous Cell Carcinoma
Chronic lymphocytic leukaemia transformation
Vitamin E Assay
Abdominal Compartment Syndrome
Infectious Enterocolitis
Meningococcal bacteraemia
Pneumococcal bacteraemia
Carnitine deficiency
Autoimmune nephritis
Heart valve calcification
Brugada Syndrome (disorder)
Recurrent Acute Myeloid Leukemia
Abdominal cocoon
Epimacular membrane
Granulomatous iritis
Call-Fleming syndrome
Infected cyst
Arthrofibrosis
Intestinal edema
Neutrophilic dermatosis
Nevus cell nevus
Renal anemia
Brown urine
Melanonychia
Paratubal Cyst
Intestinal adenoma
Neurotmesis
Myoglobinaemia
Bacteremia due to Staphylococcus aureus
Psychogenic seizure
Sundowning
Intrahepatic biloma
Apraxia of eyelid
Lupus anticoagulant measurement
Smooth philtrum
Pneumonia due to methicillin resistant Staphylococcus aureus
Native valve endocarditis
Primary HIV infection
Cytomegalovirus infection reactivation
Hypertensive cardiomyopathy
Autonomic nervous system disorders
Respiratory Failure
"Deafness, Sudden"
X-Linked Dyskeratosis Congenita
biotin-[acetyl-CoA-carboxylase] ligase activity
peptidylamidoglycolate lyase activity
"2-oxo-hept-3-ene-1,7-dioate hydratase activity"
sucrose-phosphate synthase activity
Endometrial adenocarcinoma
sensory perception of bitter taste
Lower respiratory tract inflammation
Biloma
Situs ambiguous
Epidermal necrosis
Stage I Gallbladder Carcinoma
Pancreatic carcinoma stage I
Pleuropericarditis
Graft ischaemia
Candida endophthalmitis
Neutropenic infection
Lung hyperinflation
Skin toxicity
Increased alpha-globulin
Beta globulin measurement
Coagulation factor measurement
Increased CSF lactate
Arterial calcification
Septicopyemia
Recurrent respiratory papillomatosis
Uremic anemia
Asymmetry of the ears
Laryngopharyngeal Reflux
Central Hypogonadism
Melalgia
Corneal melt
High-Grade Prostatic Intraepithelial Neoplasia
Low Grade Prostatic Intraepithelial Neoplasia
Flash pulmonary oedema
Non-ischemic dilated cardiomyopathy
Apical myocardial infarction
Squamous cell carcinoma of the head and neck
Protein C antigen measurement
Pseudocholinesterase Measurement
Kallikrein hypertension
Renoprival hypertension
Severe Acute Respiratory Syndrome
Ductal Carcinoma
Thoracic kyphosis
Lumbar hyperlordosis
Hair whorls
Child Malnutrition
Overnutrition
"Choledochal Cyst, Type II"
"Choledochal Cyst, Type III"
"Choledochal Cyst, Type IV"
"Choledochal Cyst, Type V"
Chromosomal Instability
"Aganglionosis, Rectosigmoid Colon"
pseudomembranous colitis
Colonic Inertia
"Pheochromocytoma, Extra-Adrenal"
Intestinal Polyposis
"Mammary Carcinoma, Animal"
"Mammary Neoplasms, Human"
Glucose Metabolism Disorders
Mannosidase Deficiency Diseases
Endogenous Hyperinsulinism
Exogenous Hyperinsulinism
Compensatory Hyperinsulinemia
Henipavirus Infections
Barrett Epithelium
Diffuse Scleroderma
Ileus
Myxoid cyst
"Dendritic Cell Sarcoma, Follicular"
"Dendritic Cell Sarcoma, Interdigitating"
Langerhans Cell Sarcoma
Erythropoietin-resistant anemia
Glucocorticoid-remediable aldosteronism
Alpha thalassemia intermedia
Alpha thalassemia minor
Splenic sequestration
prothrombin gene mutation
frontal dementia
Delayed separation of umbilical cord
Acute ulcerative colitis
Aortic valve disorder
Infective dermatitis
Rhinorrhea
Allergic bronchitis
Mural thrombus of heart
Hypertrophic obesity
"Anemia, Diamond-Blackfan"
Dysfibrinogenemia
Abnormal breathing
Abnormal pigmentation
Morphologically altered structure
Drusen
Eccrine ductal carcinoma
Lipoblastoma
Central odontogenic fibroma
Chronic bullous emphysema
Pontoneocerebellar hypoplasia
Agenesis of vagina
Stenosis
Allergic reaction to insect bite
Fasting blood sugar result
Congenital meningocele
Sarcoma
Finding of Mean Corpuscular Hemoglobin
Congenital absence of both testes
Type I hyperlipidaemia
Chondrosis
Ischaemic cerebral infarction
Bacterial sinusitis
Hyperphosphatasemia
Post lumbar puncture syndrome
Uremic pruritus
Diffuse alveolar damage
Diabetic cystopathy
Glial scar
Lymphocytic infiltration
Congenital hyperthyroidism
Neuromuscular toxicity
Lipohypertrophy
Fungal keratitis
Scleroderma renal crisis
Grip strength decreased
Cerebrovascular infarction
Lymphocytic alveolitis
Diarrhoea predominant irritable bowel syndrome
IgM gammopathy
Dysmetabolic syndrome
Testicular infection
Oral wart
High turnover bone disease
Invasive Fungal Infections
Weight decreased
Eosinophilic gastroenteritis
Hereditary stomatocytosis
Hepatocellular jaundice
"Hepatitis, Drug-Induced"
Osteoprotegerin test
Macroorchidism
Advanced cirrhosis
Chronic metabolic disorder
Sulfatiduria
Uroporphyrinuria
Coproporphyrinuria
Disorder of organic acid metabolism
Female genital tract infection
Endocervical adenocarcinoma
Neoplasm of body of uterus
Attention deficit hyperactivity disorder
Paralytic stroke
Lumbar radiculopathy
Peripheral axonal neuropathy
"Muscular dystrophy congenital, merosin negative"
"Duane's syndrome, type 2"
Neoplasm of cerebrum
Neoplasm of frontal lobe
Neoplasm of temporal lobe
Neoplasm of cauda equina
Hemolytic disorder
Regenerative anemia
Sickle cell-Hemoglobin O Arab disease
Familial polycythemia vera
Alloimmune thrombocytopenia
"von Willebrand Disease, Type 1"
"von Willebrand Disease, Type 2"
"von Willebrand Disease, Type 3"
Disorder of intra-abdominal lymph nodes
"Follicular non-Hodgkin's lymphoma, small cleaved cell"
"Follicular non-Hodgkin's lymphoma, large cell"
Refractory anemia with ringed sideroblasts
Blister with infection
Persistent infection
Infectious peritonitis
Fatal infectious mononucleosis
Trephine hole
Progonoma
Orthokeratinized odontogenic cyst
Lateral protrusion
Calcified aneurysm
Multiple aneurysms
Diffuse telangiectasis
Single cyst
Chronic emphysema
Eggshell calcium deposition
Hyperparakeratosis
Clear cell tumor
Large cell neuroendocrine carcinoma
Glassy cell carcinoma
Non-small cell carcinoma
Basaloid squamous cell carcinoma
Adenoid basal carcinoma
Trichilemmocarcinoma
Papillary transitional cell neoplasm of low malignant potential
Canalicular adenoma
"Hepatocellular carcinoma, scirrhous"
Flat adenoma
Traditional Serrated Adenoma
Enterochromaffin-like cell carcinoid
Atypical carcinoid tumor
Chromophobe Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
Collecting Duct Carcinoma of the Kidney
Metanephric adenoma
Atypical follicular adenoma
Fetal adenocarcinoma
Hyalinizing trabecular adenoma
Poorly Differentiated Thyroid Carcinoma
Papillary microcarcinoma
Mixed medullary-follicular carcinoma
Syringofibroadenoma
Malignant eccrine spiradenoma
Eccrine porocarcinoma
Intraductal papillary-mucinous adenoma
"Intraductal papillary-mucinous carcinoma, invasive"
Atypical medullary carcinoma
Polymorphous low grade adenocarcinoma
Adenocarcinoma with neuroendocrine differentiation
Metaplastic carcinoma
Hepatoid adenocarcinoma
"Thymoma, type A"
"Thymoma, type AB"
"Thymoma, type B2"
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Carcinoma showing thymus-like element
Thymic epithelial tumor
Large cell calcifying Sertoli cell tumor
"Glomus tumor, malignant"
Diffuse melanocytosis
Meningeal melanomatosis
Cellular fibroma
Solitary fibrous tumor
Myofibroma (morphologic abnormality)
Angiomyofibroblastoma
tumor miofibroblástico peribronquial congénito
"Histiocytoma, Angiomatoid Fibrous"
Ossifying fibromyxoid tumor
Atypical Lipoma
Chondroid lipoma
Metastasizing leiomyoma
Spindle cell rhabdomyosarcoma
"Gastrointestinal stromal tumor, benign"
Benign cystic nephroma
Cystic Partially Differentiated Nephroblastoma
Nephrogenic adenofibroma
Pleuropulmonary blastoma
Adenomyoepithelioma
Neuroendocrine tumor grade 1
"Multicystic mesothelioma, benign"
Intratubular malignant germ cells
Nongerminomatous Germ Cell Tumor
"Trophoblastic tumor, epithelioid"
Intraosseous well differentiated osteosarcoma
High grade surface osteosarcoma
Intracortical osteosarcoma
"Chondrosarcoma, Clear Cell"
Malignant tenosynovial giant cell tumor
Parachordoma
Atypical choroid plexus papilloma
Dysembryoplastic neuroepithelial tumor
Gliofibroma
Large cell medulloblastoma
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)
Atypical Teratoid Rhabdoid Tumor
"Retinoblastoma, spontaneously regressed"
Granular cell tumor of the sellar region
Lymphocyte Rich Classical Hodgkin Lymphoma
Polybrominated biphenyl measurement
Porphyric polyneuropathy
Localized candidiasis
Mammographic Breast Density
Congenital Thrombotic Thrombocytopenic Purpura
Diarrhea-associated hemolytic uremic syndrome
Diarrhea-negative hemolytic uremic syndrome
"Myelodysplastic syndrome, no ICD-O subtype"
Major Depressive Disorder
Caliectasis
Infection due to resistant organism
Keratosis lichenoides chronica
Tumor Cell Invasion
Disorder of chorion
Desmoplastic mesothelioma
Mild cognitive disorder
Lower limb spasticity
Congenital ectopic pupil
Pigment dispersion syndrome (disorder)
Scotopic sensitivity
Autoantibody measurement
Disorder of vitamin B12
Deficiency of vitamin D3
Small cell glioblastoma
Secondary angle-closure glaucoma - synechial
Benign mixed epithelial and stromal tumor of kidney
Minimal deviation adenocarcinoma of endocervical type
Follicular bronchiolitis
Left ventricular diastolic dysfunction
Upper limb spasticity
First myocardial infarction
Oncogenic osteomalacia
Lupus erythematosus overlap syndrome
IgA pemphigus
Autosomal dominant ichthyosis
Autosomal recessive ichthyosis
Punctate palmoplantar keratoderma
Inherited epidermolysis bullosa
Chylomicronemia syndrome
T-lymphocyte immunodeficiency
Febrile Ulceronecrotic Mucha-Habermann disease
Primary cutaneous B-cell lymphoma
Recurrent herpes simplex infection of eye
Recurrent herpes simplex labialis
Recurrent genital herpes simplex
Streptococcal infection of skin
Vibrio vulnificus infection
Chronic plaque-like oral candidiasis
Fixed cutaneous sporotrichosis
Lichenoid actinic keratosis
Segmental vitiligo
Hypopigmented scar
Postmenopausal frontal fibrosing alopecia
Central centrifugal cicatricial alopecia
Atrophic acne scar
Hyperhidrosis Palmaris Et Plantaris
Atopic keratoconjunctivitis
Ligneous conjunctivitis
Urban Schosser Spohn syndrome
Scleroderma-like secondary cutaneous sclerosis
Port-wine stain with oculocutaneous melanosis
Midline cervical cleft
Cutaneous hyperalgesia
Cutaneous allodynia
Skin-ache syndrome
Stinging of skin
Drug-Induced Stevens Johnson Syndrome
Drug-induced panniculitis
Drug-induced mucositis
Retinoid dermatitis
Skin flap necrosis
Radiation-induced xerostomia
Odonto-onycho-dermal dysplasia
Acrocephalopolysyndactyly type 2
Cardio-facio-cutaneous syndrome
Ichthyosis follicularis with alopecia and photophobia (IFAP)
Keratoderma with deafness
Epidermolysis Bullosa Pruriginosa
Familial multiple trichoepitheliomata
Inherited disorder of porphyrin metabolism
TNF receptor-associated periodic fever syndrome (TRAPS)
Hyper-IgD periodic fever syndrome (HIDS)
Autosomal recessive hyperimmunoglobulin M syndrome
Multiple skin tags
Multiple basal cell papillomata
"Bowen's disease, pagetoid"
Subungual keratoacanthoma
Mantleoma
Sebaceoma
Paget's disease of vulva
Fibroma of tendon sheath
Storiform collagenoma
Dermatomyofibroma
Familial Multiple Lipomatosis
Spindle cell liposarcoma
Soft tissue chondroma
Extraskeletal Myxoid Chondrosarcoma
Low-grade fibromyxoid sarcoma
Lymphomatoid papulosis type A (CD-30 positive type)
Poikilodermatous mycosis fungoides
Granulomatous mycosis fungoides
Erythrodermic mycosis fungoides
Primary cutaneous marginal zone B-cell lymphoma
Primary cutaneous diffuse large cell B-cell lymphoma
Necrobiotic Xanthogranuloma
Familial mastocytosis
Non-involuting congenital hemangioma
Desmoplastic spindle and epithelioid cell melanocytic nevus of skin
Extra-abdominal fibromatosis
Rapidly involuting congenital hemangioma
Relapsing linear acantholytic dermatosis
Lymphedema of lower extremity
Familial hypercholesterolemia due to genetic defect of apolipoprotein B
Tumor stage mycosis fungoides
Funisitis (disorder)
Acute myeloid leukemia with recurrent genetic abnormality
Melanotic medulloblastoma
Meibomian gland dysfunction
Avellino corneal dystrophy
Granulomatous rosacea
Congenital central hypoventilation
D - transposition of the great vessels
Transitional cell dysplasia
Metaplastic squamous cell carcinoma
Cellular neurothekeoma
Sensory exotropia
Bilateral superior oblique palsy
Pena-Shokeir syndrome type I
Acute non-ST segment elevation myocardial infarction (disorder)
Infantile atopic dermatitis
Childhood atopic dermatitis
Adult atopic dermatitis
Chronic hand eczema
Sporadic porphyria cutanea tarda
Cutaneous lymphoma
Delayed adrenarche
Left ventricular systolic dysfunction
Delayed myelination
Pangastritis
Cough with fever
Transferrin saturation measurement
Serum gamma-glutamyl transferase measurement
Transient myocardial ischemia
Postnatal infection
Chlamydial urethritis
Laboratory animal dander allergy (disorder)
Chronic leukemia (category)
Cardiomyopathy in Duchenne muscular dystrophy
Inflammatory abdominal aortic aneurysm
Postoperative pneumonia
periodic paralysis (finding)
Anxiety neurosis (finding)
X-Linked Combined Immunodeficiency Diseases
Tinea profunda (disorder)
Calorie overload
Acute interstitial pneumonia
Lipoatrophy
Podoconiosis
Axenfeld syndrome
displaced uterus
"Von Willebrand disease, platelet type"
Vascular degeneration
Intercritical gout
Familial obesity
Fatty acid measurement
Hemoglobin A measurement
Corneal allograft rejection
Obstruction of nasolacrimal duct
Refractory heart failure
Choroidal neovascular membrane (disorder)
Postoperative endophthalmitis
Endogenous endophthalmitis
Adenoviral keratitis
Sterile keratitis
Intermittent pain
Ocular Cicatricial Pemphigoid
Mixed type cataract
Acquired nasolacrimal duct obstruction
Primary acquired nasolacrimal duct obstruction
Metastasis from malignant tumor of prostate
Gastric Xanthoma
Granulocytosis
Penile swelling
De Vaal's syndrome
Secondary Raynaud's phenomenon
Type 2 diabetes mellitus in nonobese
Enthesitis
"von Willebrand Disease, Type 2A"
"von Willebrand Disease, Type 2B"
von Willebrand disease type 2M
"von Willebrand Disease, Type 2N"
Transient hypoparathyroidism
ehrlichiosis chafeensis (diagnosis)
Iron binding capacity total measurement
Postcapillary pulmonary hypertension
Deficiency of acetylcholinesterase
Butyrylcholinesterase deficiency
Deficiency of sulfatase
"Sucrase-isomaltase deficiency, congenital"
Deficiency of aminopeptidase
Deficiency of cathepsin C
Degenerative disorder
Autoimmune connective tissue disorder
Fetal Nutrition Disorders
Fetal ascites
Neonatal respiratory system disorder
Vegetation
Memory performance
Finding of liver enzyme levels
Bilirubin level result
Atrophoderma maculatum
Subretinal membrane
Chronic disease of skin
Plaque morphea
Acute mucositis
Post-streptococcal reactive arthritis
Disorder of cervical spine
Disorder of smooth muscle
Neoplasm of chest wall
Nonspecific interstitial pneumonia
Acute disease of cardiovascular system
Chronic heart disease
Cerebral arterial aneurysm
Abnormal number of teeth
Anodontia of Permanent Dentition
Familial hypodontia
Amelogenesis imperfecta pigmented hypomaturation type
Failure of tooth eruption
Hyperplastic tooth follicle
Resorption of apex of tooth root
Dentin bridge
Acute apical abscess
Chronic apical abscess
Osteomyelitis of mandible
Peripheral ossifying fibroma
Acquired anomaly of tongue
Diarrheal disorder
Disorder of skull
Disorder of hand
Inflammatory disorder
Acute inflammatory disease
Chronic inflammatory disorder
Abnormal peristalsis
Abdominal bloating
Decreased reticulin
Increased histidine
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Cortisone reductase deficiency
Deficiency of aldehyde oxidase
Deficiency of iodide peroxidase (disorder)
Deficiency of dehydrogenase
Deficiency of oxidase
Deficiency of monooxygenase
Deficiency of reductase
Deficiency of transferase
Transaldolase Deficiency
Deficiency of sedoheptulokinase
D-glycericacidemia
Deficiency of phosphorylase kinase
Deficiency of 3-oxoacid CoA-transferase
Deficiency of triacylglycerol lipase
Deficiency of phosphoserine phosphatase
Hyaluronidase Deficiency
Beta-Ureidopropionase Deficiency
Deficiency of lyase
Deficiency of glutamate decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of citrate(si)-synthase
Deficiency of isomerase
Deficiency of maleylacetoacetate isomerase
Ribose 5-Phosphate Isomerase Deficiency
Deficiency of mannose-6-phosphate isomerase
Deficiency of glucose-6-phosphate isomerase
Deficiency of bisphosphoglycerate mutase
In(Lu) phenotype (finding)
Primary Effusion Lymphoma
Mediastinal (Thymic) Large B-Cell Lymphoma
Precursor B-cell lymphoblastic lymphoma
Precursor T-cell lymphoblastic lymphoma
Precursor B-cell lymphoblastic leukemia
"Chronic myelogenous leukemia, BCR/ABL positive"
"Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative"
Acute myeloid leukemia with multilineage dysplasia
"Acute myeloid leukemia, t(8;21) (q22;q22)"
"Acute myeloid leukemia, 11q23 abnormalities"
Therapy-related acute myeloid leukemia and myelodysplastic syndrome
Aggressive natural killer-cell leukemia
Chronic myeloproliferative disorder
Myelodysplastic Syndrome with Isolated del(5q)
Therapy-related myelodysplastic syndrome
Leptin measurement
Decreased vibratory sense
Increased estradiol level
Increased glucagon level
Partial Trisomy
Radial scar
Single tumor
Occlusive stroke
Oxalosis
Autistic spectrum disorder with isolated skills
Chronic pain syndrome
Cleft lip and alveolus
Hypoplasia of optic disc
Congenital pelviureteric junction obstruction
Aneurysm of aortic root
Endocervical Carcinoma
Carcinoma of supraglottis
Primary malignant neoplasm of ovary and other uterine adnexa
Sarcoma - category (morphologic abnormality)
Multi vessel coronary artery disease
Left main coronary artery disease
Developmental failure of fusion
Neonatal stroke
Early cirrhosis
Non-insulin-dependent diabetes mellitus with unspecified complications
Postural Orthostatic Tachycardia Syndrome
Glaucomatous visual field defect
Eosinophilic myositis (disorder)
laminitis
Enteric coccidiosis
Exudative diathesis
Perivascular Epithelioid Cell Neoplasms
Villitis of unknown etiology
Diaphyseal medullary stenosis with bone malignancy
Blomstrand dysplasia
"Thanatophoric dysplasia, type 1"
"Thanatophoric dysplasia, type 2"
"Spondyloepimetaphyseal dysplasia, sponastrime type"
Acroscyphodysplasia
Brachydactyly syndrome type B
Brachydactyly syndrome type C
SAUL-WILSON SYNDROME
Transient neonatal hyperparathyroidism
Desmoplastic fibroblastoma
Atypical polypoid adenomyoma
Small cell carcinoma of prostate
Acute and chronic colitis
Necrotic tumor
Pancreatic intraepithelial neoplasia
Mast cell malignancy
Mast cell abnormality
"Mucoepidermoid carcinoma, high grade"
Salivary duct carcinoma
Gastrointestinal Crohn's disease
Extraovarian endometriosis
Myelodysplastic-Myeloproliferative Diseases
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Acute Leukemia of Ambiguous Lineage
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
"Post-transplant lymphoproliferative disorder, polymorphic"
Primary Cutaneous Anaplastic Large Cell Lymphoma
Blastic plasmacytoid dendritic cell neoplasm
"Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease"
Severe visual impairment
Hypertension with albuminuria
Cardiovascular morbidity
Neurological morbidity
Respiratory morbidity
Induced hypothermia (finding)
Talipes
Bulbar weakness
Dysplasia of colon
Adenoma of small intestine
Adenoma of large intestine
"Mucinous adenocarcinoma, intestinal type"
Plasma cell myeloma/plasmacytoma
Complex atypical endometrial hyperplasia
Necrotic melanoma
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Polyp of small intestine
Adenoma of rectum
Retinal thickening
Hamartoma of skin
Melanocytic neoplasm
Primary cutaneous lymphoma
Low Grade Squamous Intraepithelial Neoplasia
Congenital lymphatic malformation
Congenital malformation syndrome
Cutaneous vascular malformation
Myopericytoma
Lipomatous hamartoma
Congenital Fibrosis of the Extraocular Muscles
Ankyloblepharon filiforme adnatum
Congenital euryblepharon
Epicanthus inversus
Brushfield spots
"Microcoria, congenital"
"Mydriasis, Congenital"
Nicolaides Baraitser syndrome
Tortuous carotid artery
Acute ST segment elevation myocardial infarction (disorder)
Brachioradial pruritus
Irritant contact dermatitis due to incontinence
Chronic stable plaque psoriasis
Early onset psoriasis type 1
Onset of psoriasis in childhood (1-10 years)
Familial psoriasis
Retention hyperkeratosis
Idiopathic angioedema
Autoimmune urticaria
Chronic autoimmune urticaria
Pemphigoid nodularis
Cutaneous xanthoma
Skin Nodular Basal Cell Carcinoma
Metastatic basal cell carcinoma
Eruptive melanocytic nevi
Occupational irritant contact dermatitis
Urticarial vasculitis
Localized vitiligo
Generalized vitiligo
Microvenular hemangioma
Spindle cell hemangioma
Glomeruloid hemangioma
Ischemic fasciitis
Extrarenal rhabdoid tumor
RDW - Red blood cell distribution width result
"Thoracoabdominal aortic aneurysm, ruptured"
Congenital supravalvular aortic stenosis
Atypical adenoma
Overbite
Diastolic blood pressure measurement
Body mass index
Familial hematuria
Eccrine dermal cylindroma
Primary malignant neoplasm of appendix
DEVELOPMENTAL DYSPLASIA OF THE HIP 1
Drug-induced paranoid state
After-cataract
Oguchi disease
Kidney replacement disorder
ACTH-Secreting Pituitary Adenoma
Dyschromatosis universalis
Aggressive angiomyxoma
Melanotic neurilemmoma
Mental handicap
Primary malignant neoplasm
Primary malignant neoplasm of lung
Congenital exomphalos
Chronic venous insufficiency
Hepatic Insufficiency
Botryoid-Type Embryonal Rhabdomyosarcoma
Botryoid rhabdomyosarcoma
Acute encephalopathy
"Congenital dyserythropoietic anemia, type II"
Radial nerve palsy
Systolic blood pressure measurement
Facial asymmetry
Congenital naevus
Eosinophilic disorder
Aortoiliac occlusive disease
Red man syndrome
Atypical subacute thyroiditis
Papillary Renal Cell Carcinoma
Pyrophosphate arthritis
Endemic osteoarthritis
Megaloblastic anemia due to inborn errors of metabolism
Nonbacterial gastroenteritis
Climacteric discomfort
Peripheral arterial occlusive disease
Anomaly of placenta
Hereditary edema of legs
Respiration intermittent
Trichorrhexis nodosa syndrome
Dental cyst
Acute contagious conjunctivitis
Dipstick assessment of hemoglobin concentration
Serum alkaline phosphatase raised
Ameloblastic Carcinoma
Age at menarche
"Astrocytoma, low grade"
Steatocystomas
Stromal keratitis
immunoglobulin G index
Serum iron measurement
Serum zinc measurement
Liver regeneration disorder
Non-toxic nodular goiter
Finding of hemoglobin concentration
Infantile malignant osteopetrosis
Necrotizing vasculitis
Secondary polycythemia
Sertoli-Leydig cell tumor of intermediate differentiation
Fibrous histiocytoma of tendon sheath
M5b Acute differentiated monocytic leukemia
Refractory anemia with excess blasts I
Congenital melanocytic nevus
Infantile digital fibromatosis
Anti-cyclic citrullinated peptide antibody level
Herpes simplex type 1 infection
Vancomycin intermediate staphylococcus aureus infection
Staphylococcus aureus infection
"Nephrogenic rest, intralobar"
Asthmatic bronchitis
Corticosteroid induced cataract
Infection due to vancomycin resistant Staphylococcus aureus
Pediatric human immunodeficiency virus infection
"Nephroblastoma, favorable histology"
Transitional cell carcinoma of kidney
Adenocarcinoma of large intestine
Squamous cell carcinoma of pharynx
Barber Say syndrome
"Asthma, Aspirin-Induced"
Sendai virus infection
Invasive Group A beta-hemolytic streptococcal disease
Invasive Streptococcus pneumoniae disease
Cervical Squamous Cell Carcinoma In Situ
Nephrogenic rest
"Mesoblastic nephroma, cellular"
Nuchal Rigidity
Bone marrow myeloid dysplasia
Peripheral retinal degeneration
Non-specific colitis
Astrocytic hamartoma
Paraneoplastic retinopathy
Elliptical nystagmus
Slowed saccades
Monoblastic leukemia
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Torre-Muir syndrome
Anaplastic large B-cell lymphoma
T-cell/histiocyte rich large B-cell lymphoma
Shprintzen-Goldberg syndrome
Ocular ischemic syndrome
Trichobezoar disorder
Breathing abnormally deep
Achalasia
Histiocytic leukemia
Malignant chondroid syringoma
Gestosis
"HYPOTHYROIDISM, GOITROUS"
Juvenile astrocytoma
Pediatric Intraocular Retinoblastoma
childhood acute myeloid leukemia/other myeloid malignancies
Stage IV Skin Melanoma
Desmoplastic infantile ganglioglioma
Atresia of vagina
Blood in stool
Minimal Brain Dysfunction
Congenital absence of parathyroid gland
Chordoid Glioma of the Third Ventricle
Seasonal rhinitis
sympathomimetic disorder
fibrinogen activity
Congenital amegakaryocytic thrombocytopenia
REVESZ SYNDROME (disorder)
Oculootoradial syndrome
Myelocerebellar Disorder
"Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive"
type B thymoma
"Myelodysplastic/myeloproliferative neoplasm, unclassifiable"
Mucocutaneous leishmaniasis
Ankle brachial pressure index (observable entity)
Mitochondrial hepatopathy
Neuropathy ataxia and retinis pigmentosa
Laryngoonychocutaneous syndrome
Acute right ventricular failure
Metastatic glioma
Hip Dysplasia
Abnormality of amino acid metabolism
Pancreatic Endocrine Carcinoma
Intraoperative hypertension
Rhizarthrosis
Hormone refractory prostate cancer
Tubular breast carcinoma
Autologous graft versus host disease
Transfusion associated graft versus host disease
Empty follicle syndrome
Panhypogammaglobulinemia
Agraphesthesia
Autoimmune Lymphoproliferative Syndrome
Autoimmune vasculitis
Multiple Lentigines/LEOPARD syndrome
Multiple lentigines
Developmental Academic Disorder
Aortic sclerosis
Thymic Dysplasia
Infection by Ascaris lumbricoides
AIDS-Related Diffuse Large B-cell Lymphoma
AIDS-Related Non-Hodgkin Lymphoma
AIDS-Related Primary Effusion Lymphoma
"Anaplastic large cell lymphoma, ALK negative"
"Anaplastic Large Cell Lymphoma, ALK-Positive"
Lung Acinar Adenocarcinoma
Prostate Acinar Adenocarcinoma
Acrofacial Dysostosis
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
Acute myelomonocytic leukemia with abnormal eosinophils
Acute Thymic Involution
Adenocarcinoma of the gastroesophageal junction
Adenoid cystic breast carcinoma
Thymic Adenosquamous Carcinoma
Adult Acute Leukemia in Remission
Adult Anaplastic Large Cell Lymphoma
Adult Astrocytic Tumor
Adult Atypical Meningioma
Adult Brain Glioblastoma
Adult Clear Cell Sarcoma of Soft Parts
Adult Desmoplastic Small Round Cell Tumor
Adult Diffuse Astrocytoma
Adult Diffuse Large B-Cell Lymphoma
Adult Lymphocyte-Rich Classical Hodgkin Lymphoma
Adult Lymphoma
Adult Nodular Lymphocyte Predominant Hodgkin Lymphoma
Adult B Lymphoblastic Lymphoma
Adult T Lymphoblastic Lymphoma
Adult Primary Cutaneous Anaplastic Large Cell Lymphoma
Adult Spinal Cord Ependymoma
Adult Systemic Anaplastic Large Cell Lymphoma
Adult Type Ovarian Granulosa Cell Tumor
Adult Kidney Wilms Tumor
Adult Xanthogranuloma
Adult Yolk Sac Tumor
Aggressive Non-Hodgkin Lymphoma
Alcohol-Related Hepatocellular Carcinoma
Adenocarcinoma of ampulla of Vater
Adenocarcinoma of anal canal
Anal canal squamous cell carcinoma
Perianal Squamous Intraepithelial Neoplasia
"Castleman Disease, Hyaline-Vascular Type"
Anti-Basement Membrane Glomerulonephritis
Aortic Angiosarcoma
Breast Apocrine Adenosis
Apocrine breast carcinoma
Asbestos-Related Lung Carcinoma
Asbestos-Related Malignant Mesothelioma
Atypical Adenomatous Lung Hyperplasia
Atypical Ductal Breast Hyperplasia
Atypical Small Acinar Proliferation of the Prostate Gland
Autoimmune Hepatitis with Centrilobular Necrosis
BRCA1 Syndrome
Barrett's Adenocarcinoma
Benign Dermal Neoplasm
Bilateral Carcinoma
Biphasic Pulmonary Blastoma
Bladder Paraganglioma
Small cell neuroendocrine carcinoma of bladder
Blastoid Variant Mantle Cell Lymphoma
Bone Epithelioid Hemangioma
Haemangioma of bone
Primary bone lymphoma
Bone Surface (Peripheral) Osteosarcoma
Astrocytoma of brain stem
Brain Stem Glioblastoma
Angiosarcoma of the breast
"Breast Fibrocystic Change, Proliferative Type"
Breast Liposarcoma
Breast Mucosa-Associated Lymphoid Tissue Lymphoma
Breast Small Cell Carcinoma
Complement component 3 deficiency
Calcifying Fibrous Pseudotumor
Cardiac Epithelioid Hemangioendothelioma
Cardiac Paraganglioma
Cardiac rhabdomyoma
Cauda Equina Paraganglioma
Cavernous Sinus Meningioma
Adenocarcinoma of cecum
Central nervous system leukaemia
Central Nervous System Melanocytic Neoplasm
Central nervous system melanoma
Cerebellar Glioblastoma
Cerebellar hemangioblastoma
Cervical Clear Cell Adenocarcinoma
Cervical Endometrioid Adenocarcinoma
Cervical Mucinous Adenocarcinoma
Cervical Squamous Intraepithelial Neoplasia
Childhood Acute Erythroid Leukemia
Childhood Acute Leukemia in Remission
Childhood Anaplastic Large Cell Lymphoma
Childhood Anaplastic Oligodendroglioma
Childhood Botryoid-Type Embryonal Rhabdomyosarcoma
Childhood Brain Meningioma
Childhood Brain Stem Neoplasm
Childhood Cerebellar Neoplasm
Childhood Clear Cell Sarcoma of Soft Parts
Congenital Mesoblastic Nephroma
Childhood Desmoplastic Small Round Cell Tumor
Childhood Ganglioglioma
Childhood Hematopoietic Neoplasm
Childhood Leukemia
Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma
Childhood Lymphoma
Childhood Mesenchymal Chondrosarcoma
Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma
Childhood Osteosarcoma
Childhood Pilocytic Astrocytoma
Childhood B Lymphoblastic Lymphoma
Childhood T Lymphoblastic Lymphoma
Childhood Renal Cell Carcinoma
Childhood Kidney Neoplasm
Childhood Supratentorial Neoplasm
Childhood Kidney Wilms Tumor
Chronic Adult T-Cell Leukemia/Lymphoma
Chronic Cancer Pain
Chronic Myelomonocytic Leukemia-1
Chronic Myelomonocytic Leukemia-2
"Myeloproliferative Neoplasm, Unclassifiable"
Conventional Lipoma
Classical Burkitt Lymphoma
Classical Hodgkin's Lymphoma
Lung Clear Cell Tumor
Clear Cell Hepatocellular Carcinoma
Thymic Clear Cell Carcinoma
Chordoma of clivus
Colloid Carcinoma of the Pancreas
Colon Neuroendocrine Tumor G1
Colon Carcinoma Metastatic in the Liver
Colon Mucosa-Associated Lymphoid Tissue Lymphoma
Squamous cell carcinoma of colon
Colorectal High Grade Intraepithelial Neoplasia
Colorectal Intraepithelial Neoplasia
Colorectal Traditional Serrated Adenoma
Colorectal Tubular Adenoma
Colorectal Villous Adenoma
combined type small cell lung cancer
Conjunctival intraepithelial neoplasia
Lipoma of corpus callosum
Primary Cutaneous Follicle Center Lymphoma
Cutaneous Follicular Lymphoma
Lymphoproliferative Disorder of the Skin
Cystic Neoplasm
Deep Penetrating Nevus
Dermal Fibroma
Desmoplastic melanoma
Diencephalic Neoplasm
Diffuse follicle center lymphoma
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia
Diffuse infiltrative lymphocytosis syndrome
ALK positive large B-cell lymphoma
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Activated B-cell type diffuse large B-cell lymphoma
Type C Lymphomatoid Papulosis
Distal-Type Epithelioid Sarcoma
Distal Bile Duct Carcinoma
Duodenal Villous Adenoma
Barretts esophagus with dysplasia
Ectopic thymus
Central Nervous System Embryonal Neoplasm
Encapsulated Thymoma
Endometrial intraepithelial neoplasia
Endometrial Squamous Cell Carcinoma
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
epithelioid cell intraocular melanoma
EBV-Related Hodgkin Lymphoma
EBV-Related Lymphoma
EBV-Related Malignant Neoplasm
Esophageal Basaloid Carcinoma
Esophageal Gastrointestinal Stromal Tumor
Esophageal High Grade Intraepithelial Neoplasia
Esophageal Liposarcoma
Esophageal Melanoma
Esophageal Squamous Intraepithelial Neoplasia
Ethmoid Sinus Adenocarcinoma
Exaggerated placental site
Extragastrointestinal Gastrointestinal Stromal Tumor
extragonadal seminoma
Fallopian Tube Adenocarcinoma
Fallopian Tube Gestational Choriocarcinoma
Hereditary Malignant Neoplasm
Flat Ductal Epithelial Atypia of the Breast
Gallbladder Melanoma
Gastric Adenosquamous Carcinoma
Gastric Cardia Adenocarcinoma
Gastric Cardia Carcinoma
Gastric Gastrointestinal Stromal Tumor
Gastric Inflammatory Myofibroblastic Tumor
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Gastric Precancerous Condition
Gastric Squamous Cell Carcinoma
Tubular adenocarcinoma gastric
Digestive System Non-Hodgkin Lymphoma
Gastrointestinal Stromal Tumor of the Gastrointestinal Tract
Central Nervous System Germinoma
Glomus Tumor of Uncertain Malignant Potential
Grade 3 Invasive Breast Carcinoma
Grade 3 Colon Adenocarcinoma
Grade 3 Colorectal Adenocarcinoma
Grade 2 Colon Adenocarcinoma
Grade 2 Colorectal Adenocarcinoma
Grade 1 Colon Adenocarcinoma
Pancreatic Intraepithelial Neoplasia-1
Granular Cell Tumor of the Neurohypophysis
B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma
Head and Neck Basaloid Carcinoma
Paraganglioma of head and neck
Heavy Chain Deposition Disease
central nervous system hemangioblastoma
Hepatic Angiomyolipoma
Carcinoid tumour of the liver
Liver Dysplastic Nodule
Inflammatory pseudotumor of liver
Liver Leiomyosarcoma
Mesenchymal hamartoma of liver
Liver and Intrahepatic Bile Duct Neoplasm
Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma
Hepatitis Virus-Related Hepatocellular Carcinoma
Hepatosplenic T-cell lymphoma
Hereditary clear cell renal cell carcinoma
Hereditary Glomangioma
Familial meningioma
Hereditary Nonpolyposis Colorectal Cancer
Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Ovarian Carcinoma
hereditary paraganglioma
Barretts esophagus with high grade dysplasia
High Grade Sarcoma
High Grade Cervical Intraepithelial Neoplasia
High Grade Intraepithelial Neoplasia
Histiocytic and Dendritic Cell Neoplasm
Human Papillomavirus-Related Endocervical Adenocarcinoma
Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma
Human Papillomavirus-Related Squamous Cell Carcinoma
Hypercellular bone marrow
Hyperimmunoglobulin Syndrome
Malignant teratoma of testis
Indolent Non-Hodgkin Lymphoma
Infiltrating Cervical Carcinoma
Inflammatory Leiomyosarcoma
Inflammatory malignant fibrous histiocytoma
Intermediate Grade Ductal Breast Carcinoma In Situ
Intermediate Risk Gastrointestinal Stromal Tumor
Intestinal Graft Versus Host Disease
Intestinal Intraepithelial Neoplasia
Intracranial Germinoma
Intracranial Melanoma
Intramuscular Myxoma
Intraorbital Meningioma
Intraurothelial Neoplasia
Intraventricular Meningioma
Invasive Apocrine Breast Carcinoma
Invasive Carcinoma
Invasive Ductal and Lobular Carcinoma
Infiltrating Bladder Urothelial Carcinoma
Inverted urothelial papilloma
Lacrimal Gland Carcinoma
Lung Large Cell Neuroendocrine Carcinoma
Laryngeal Sarcoma
Laryngeal Small Cell Carcinoma
Meningeal melanoma
Lipomatous hemangiopericytoma
Localized Carcinoma
Localized Primitive Neuroectodermal Tumor
Locally Metastatic Malignant Neoplasm
Low Grade Ductal Breast Carcinoma In Situ
Barretts esophagus with low grade dysplasia
Low Grade Gastric Intraepithelial Neoplasia
Low Grade Malignant Peripheral Nerve Sheath Tumor
Low Grade Malignant Neoplasm
adenoid cystic carcinoma of lung
Neuroendocrine neoplasm of lung
Pulmonary Sclerosing Hemangioma
Salivary Gland Lymphoepithelial Carcinoma
Lymphohistiocytoid Mesothelioma
Major Salivary Gland Carcinoma
Malignant Adult Brain Neoplasm
Malignant Childhood Central Nervous System Neoplasm
Malignant Mixed Mesodermal (Mullerian) Tumor
Malignant Ovarian Sex Cord-Stromal Tumor
Malignant Phyllodes Tumor of Prostate
Malignant Smooth Muscle Neoplasm
Intraductal Proliferative Lesion of the Breast
Mature B-Cell Neoplasm
Mature B-Cell Non-Hodgkin Lymphoma
Maxillary Sinus Squamous Cell Carcinoma
Mediastinal Germ Cell Tumor
"Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma"
Mediastinal Hodgkin Lymphoma
Mediastinal Leiomyosarcoma
Mediastinal Lymphangioma
Mediastinal Lymphoma
Mediastinal Mixed Embryonal Carcinoma and Teratoma
Mediastinal seminoma
Mediastinal teratoma
Megakaryocytic Neoplasm
Megaloblastic erythroid hyperplasia
Melanomatosis
Meningeal Gliomatosis
Mesenchymal Cell Neoplasm
Metaplastic carcinoma of breast
metastatic Ewing sarcoma/peripheral primitive neuroectodermal tumor
Metastatic Malignant Peripheral Nerve Sheath Tumor
Lymphoproliferative disorder caused by methotrexate
Breast Microglandular Adenosis
Adenoma of middle ear
Minor Salivary Gland Adenocarcinoma
Minor Salivary Gland Carcinoma
Soft Tissue Tumor of Uncertain Differentiation
Mixed Cell Type Gastrointestinal Stromal Tumor
Monomorphic Post-Transplant Lymphoproliferative Disorder
Monophasic Synovial Sarcoma
Motor Manifestations
Mucinous carcinoma of breast
Mucinous neoplasm
Mucoepidermoid Breast Carcinoma
Thymic Mucoepidermoid Carcinoma
Multi-centric Castleman's Disease
Multifocal osteosarcoma
Adenocarcinoma of the nasal cavity
Neuroblastic tumors
"Neuroepithelial, Perineurial, and Schwann Cell Neoplasm"
Neoplasm of the posterior pituitary
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Medulloblastoma with extensive nodularity
Nodular Neoplasm
Non-Cutaneous Melanoma
Non-Hereditary Clear Cell Renal Cell Carcinoma
Non-Neoplastic Peripheral Nervous System Disorder
Non-Neoplastic Urinary System Disorder
testicular nonseminoma
Non-Small Cell Adenocarcinoma
Occult Lung Adenocarcinoma
Occupational Malignant Neoplasm
Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma
Olfactory Groove Meningioma
Oligodendroglial Neoplasm
Opisthorchis Viverrini-Related Cholangiocarcinoma
Optic Nerve Astrocytoma
Oral Cavity Granular Cell Tumor
Oral Cavity Mucosal Melanoma
Osteogenic Neoplasm
Osteosarcoma Arising in Paget Disease of Bone
Ovarian Carcinoid Tumor
Ovarian Cystic Teratoma
Ovarian Mucinous Adenocarcinoma
Ovarian mucinous tumor
Ovarian Adenosarcoma
Ovarian Serous Adenocarcinoma
Ovarian Serous Surface Papillary Adenocarcinoma
Ovarian Transitional Cell Carcinoma
Pancreatic Adenosquamous Carcinoma
Pancreatic Ductal Adenocarcinoma
Papillary Lung Adenocarcinoma
Parotid Gland Adenocarcinoma
Adenoid cystic carcinoma of parotid gland
Carcinoma ex pleomorphic adenoma of parotid gland
Mucoepidermoid carcinoma of parotid gland
Parotid Gland Squamous Cell Carcinoma
periampullary adenocarcinoma
Pericardial mesothelioma
Lipomatosis of Nerve
Pericytic Neoplasm
Prostate Phyllodes Tumor
Cyst of pineal gland
Pleural Carcinomatosis
Plexopathy
Postsurgical Stage I Hepatoblastoma
precancerous polyps
Precursor Lymphoid Neoplasm
Primary chondrosarcoma of bone
Primary Carcinoma
Gastric Burkitt Lymphoma
Gastric Diffuse Large B-Cell Lymphoma
Gastric T-Cell Non-Hodgkin Lymphoma
Primary Lung Meningioma
Prostate Leiomyosarcoma
Prostate Lymphoma
Proximal-Type Epithelioid Sarcoma
Radiation-Related Angiosarcoma
Reactive Lymphocytosis
Rectal Lipoma
Recurrent Anaplastic Large Cell Lymphoma
Recurrent Follicular Lymphoma
Recurrent Head and Neck Carcinoma
Recurrent Malignant Peripheral Nerve Sheath Tumor
Recurrent Medulloblastoma
Recurrent Meningioma
Refractory Follicular Lymphoma
Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma
Refractory Neoplasm
Renal Pelvis Adenocarcinoma
Renal Pelvis Carcinoma
Retroperitoneal Lymphoma
Salivary Gland Epithelial Myoepithelial Carcinoma
Mucoepidermoid carcinoma of salivary gland
Polymorphous low grade adenocarcinoma of salivary gland
Salivary Gland Sialoblastoma
Schwannomatosis
Breast Sclerosing Adenosis
Secondary Chondrosarcoma
Signet-ring cell adenocarcinoma gastric
"Vulvar Intraepithelial Neoplasia, Differentiated Type"
Skeletal Muscle Neoplasm
Skull Base Chordoma
Skull Base Meningioma
Gastrointestinal stromal tumor of small intestine
Small Intestinal Neuroendocrine Neoplasm
Small Intestinal Sarcoma
Small Lymphocytic Lymphoma with Plasmacytoid Differentiation
Solid Lung Adenocarcinoma
Solid Papillary Breast Carcinoma
Solid pseudopapillary tumour of the pancreas
Spinal Degenerative Disorder
Spindle Cell Neoplasm
Spindle Cell Type Gastrointestinal Stromal Tumor
Sporadic Breast Carcinoma
Sporadic Burkitt's lymphoma
"Papillary renal cell carcinoma, sporadic"
Squamous cell breast carcinoma
Thymic Squamous Cell Carcinoma
Squamous Lung Dysplasia
Stage IA1 Cervical Cancer
Stage IA Lung Adenocarcinoma AJCC v7
Stage IA Lung Cancer AJCC v7
stage IA non-small cell lung cancer
Stage IB1 Cervical Cancer
Stage IB Uterine Corpus Cancer AJCC v7
Stage IB Lung Adenocarcinoma AJCC v7
Stage IB Lung Cancer AJCC v7
Stage IB Non-Small Cell Lung Carcinoma AJCC v7
Stage IB Lung Squamous Cell Carcinoma AJCC v7
Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7
Stage IIB Osteosarcoma AJCC v7
Stage III Liver Cancer
Stage 3 Neuroblastoma
Stage IV Liver Cancer
Stage I Pleural Malignant Mesothelioma AJCC v7
Subglottic hemangioma
Adenoid cystic carcinoma of submandibular gland
"Carcinoma of urinary bladder, superficial"
Supratentorial Glioblastoma
"Supratentorial Embryonal Tumor, Not Otherwise Specified"
Systemic Anaplastic Large Cell Lymphoma
T-Cell and NK-Cell Neoplasm
Testicular Germ Cell Tumor
testicular embryonal carcinoma and teratoma
"Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified"
Testicular Sarcoma
Thalamic Neoplasm
Treatment related acute myeloid leukaemia
Thymic Lymphoma
Thymic Carcinoid Tumor
Thyroid Angiosarcoma
Thyroid Diffuse Large B-Cell Lymphoma
Thyroid Gland Oncocytic Adenoma
Thyroid Hyalinizing Trabecular Adenoma
Thyroid Lymphoma
Thyroid Non-Hodgkin's Lymphoma
Treatment-Induced Anemia
Tuberculum Sellae Meningioma
Type 1 Papillary Renal Cell Carcinoma
Papillary renal cell carcinoma type 2
Type A Lymphomatoid Papulosis
Type B Lymphomatoid Papulosis
Undifferentiated Pancreatic Carcinoma
Parotid Gland Undifferentiated Carcinoma
Ureter Small Cell Carcinoma
Urethral Squamous Cell Carcinoma
Urinary Bladder Inflammatory Myofibroblastic Tumor
Uterine Angiosarcoma
Endometrial Endometrioid Adenocarcinoma
Vaginal Leiomyoma
Visual Manifestations
Well Differentiated Pancreatic Endocrine Tumor
Well-differentiated papillary mesothelioma
Differentiated Thyroid Gland Carcinoma
Grade I Chondrosarcoma
Xanthogranulomatous cholecystitis
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Adrenalitis
Cerebral Cavernous Malformations 1
Kaposiform Hemangioendothelioma
Cellular angiofibroma
Nasopharyngeal Angiofibroma
Giant cell angiofibroma
Adamantinoma
BALT lymphoma
Marginal Zone B-Cell Lymphoma
Eccrine Papillary Adenocarcinoma
Digital papillary eccrine carcinoma of skin
Pineal parenchymal tumor of intermediate differentiation
Pagetoid reticulosis
Phlebitis and thrombophlebitis
Paget Disease
Pancreatic Somatostatinoma
islet cell gastrinoma
Aplastic bone marrow
Solitary Myofibromatosis
Pigmented Basal Cell Carcinoma
Malignant basal cell tumor
Hypopharyngeal Carcinoma
Epithelioma
Burkitt-like lymphoma
Sebaceous adenoma
Ovarian Sclerosing Stromal Tumor
Adult Teratoma
Mature Teratoma
Papillary urothelial carcinoma
Primary serous papillary carcinoma of peritoneum
Atypical Lobular Breast Hyperplasia
Anal cancer metastatic
Ovarian Granulosa Cell Tumor
Plasma cell myeloma recurrent
Scrotal Carcinoma
Tanycytic ependymoma
Cerebellar Liponeurocytoma
Adult Intracranial Germ Cell Tumor
Chordoid meningioma
Soft tissue perineurioma
Intraneural perineurioma
Clear cell hidradenoma
Stromal sarcoma
Bile duct adenocarcinoma
Recurrent Childhood Hepatocellular Carcinoma
"Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive"
"Liposarcoma, well differentiated"
carcinoma of the renal pelvis and ureter
Prostate cancer stage C
Regressing nevus
Peritoneal Mesothelioma
Childhood Central Nervous System Neoplasm
Adult Central Nervous System Neoplasm
Nasal cavity carcinoma
Periosteal Osteosarcoma
refractory carcinoma of the testis
Pleural Mesothelioma
Benign vascular neoplasm
Stage IV Nasopharyngeal Carcinoma
Odontogenic myxofibroma
Oncocytic Neoplasm
Undifferentiated leukemia
Blast cell leukemia
Renal carcinoma
Increased capillary permeability (finding)
Cardiac Hypertrophy
Cellular Ependymoma
Secretory meningioma
Microcystic meningioma
Metastatic Carcinoma
Conn Syndrome
Primary testicular failure
Congenital absence of germinal epithelium of testes
Generalized osteoarthritis
Tinea cruris
Hemangiomatosis
Systemic onset juvenile chronic arthritis
Dyspareunia
Cervical spondylosis
hearing impairment
Single umbilical artery
Intrauterine retardation
Acromicria
Acute depression
Caffeine dependence
Penis agenesis
Grass allergy
allergic rhinitis with asthma
Acute haemolytic anaemia
Chronic hemolytic anemia
Episodic paroxysmal anxiety
Abnormality of limbs
Arteriosclerosis of aorta
Ascending aortic rupture
Aneurysm of descending thoracic aorta
ATRIOVENTRICULAR CANAL DEFECT
Atrioventricular Septal Defect
Atrophy of the spinal cord
Generalized amyotrophy
Peroneal muscle atrophy
Lesions in the basal ganglia
Basal ganglia calcification
BB leprosy
Pelvic hypoplasia
Parathyroid hypoplasia
"Biotin-dependent carboxylase deficiency, unspecified"
Internal hemorrhage
Increased susceptibility to fractures
Bone xanthoma
Cancer cachexia
Congenital cardiomyopathy
Cardiovascular insufficiency
Coralliform cataract
Crystalline cataract
Centrocytic lymphoma
Nonobstructive chronic pyelonephritis NOS
Cognitive changes
Congenital onychodystrophy
Congenital finger flexion contractures
Coronal hypospadias
Cortical hyperostosis
Crisis state
Cryptitis
Cyanotic heart disease
Endometrial Cyst
Cystocele (female)
Intrinsic Factor Deficiency
Nervous system--Degeneration
Deep seated dermatophytosis
Dextrocardia with situs inversus
Placental dysfunction
Bowel diverticulosis
Polydactyly preaxial type 1
Perioral eczema
Epidemic polyarthritis
Hypoplasia of the epiglottis
Calcification of falx cerebri
Cardiac fibrosis
Stapes fixation
Persistent foramen ovale
Short palate
Narrow palate
Cleft palate and bilateral cleft lip
chronic glomerular disease
Growth arrest lines
Ectopic rhythm
Hemiparaesthesia
Hemiparkinsonism
Brain necrosis
skin fold (abnormality)
Humoral immunodeficiency
Attention deficit-hyperactivity
Thyroid hypertrophy
Absent pituitary
Pituitary anomalies
Immune complex nephritis
Ovarian Insufficiency
Peripheral Vascular Insufficiency
Carbohydrate intolerance
Short uvula
Pigmented lesions
Primary Lesion
Vascular lesions
Subcutaneous lipoma
Viral meningoencephalitis
Squamous cell metaplasia
Valve anomalies
Limb-girdle myopathy
Drug-induced Nephropathy
Septic peritonitis
"Poliomyelitis, paralytic"
Vaccine associated paralytic poliomyelitis
Infant Irritability
Language Problems
Retinitis punctata albescens (disorder)
Absent radius
Symptomatic epilepsy
Sirenomelia syndrome
Flexion contracture of toe
Thoracic dysplasia
Thymus enlargement
Hypertrophic neuropathy of infancy
"Hereditary motor and sensory neuropathy, types I-IV"
Renal disease (acute) NOS
Kidney damage
Supranuclear ophthalmoplegia
Absent forearm
Calcification of the auricular cartilage
Periostosis
Coronary sinus defect
Spine stiffness
"Nontraumatic subarachnoid hemorrhage, unspecified"
Narrow angle
Finger contracture
Developmental arithmetic disorder
Knot (abnormality)
Mycobacterium leprae infection
Mycobacterium; ulcerans (disease)
Clostridium; difficile (disorder)
Mycobacterium avium infection
Mesenteric vascular insufficiency
Atypical pneumonia
Tumor of the Pineal Region
Infiltrating duct carcinoma
Sweat gland carcinoma
Anal squamous cell carcinoma
"DEAFNESS, AUTOSOMAL RECESSIVE 25"
"Dystonia 6, torsion (disorder)"
"HETEROTAXY, VISCERAL, 2, AUTOSOMAL"
RP23 gene
RETINITIS PIGMENTOSA 28
CONE-ROD DYSTROPHY 9
Disseminated carcinoma
Immune diffusion
Enterostomy (morphologic abnormality)
Acute respiratory tract infection
Neonatal necrotizing enterocolitis
Myocardial necrosis
Hypervitaminosis D
Exostoses
Foreign body giant cell granuloma
Actinic porokeratosis
Avascular necrosis of the capital femoral epiphysis
Hernia of abdominal wall
Alcoholic liver damage
Estradiol level result
Carnitine Acetyltransferase Deficiency
Healthcare associated pneumonia
Axial myopia
Retinopathy of prematurity stage 1 - demarcation line
Retinopathy of prematurity stage 4 - subtotal retinal detachment
Chronic Q Fever
Severe diarrhea
Chronic esophagitis
Disease due to Neisseria
Ocular syphilis
Posterior capsule opacification
Anterior capsule opacification
"Juvenile idiopathic arthritis, enthesitis related arthritis"
Poor eye contact
Serum total cholesterol measurement
IgG Index (procedure)
Akinetic rigid syndrome
Non-specific brain syndrome
Overlapping fingers
rings tracheal
Cramping sensation quality
"Cardiomyopathy, Familial Idiopathic"
CADASILM
Primary Peritonitis
Secondary Peritonitis
Endocrine Breast Diseases
Adolescent Gynecomastia
Infant Gynecomastia
"Myopia, Progressive"
"Pseudohypoaldosteronism, Type I, Autosomal Dominant"
"Pseudohypoaldosteronism, Type I, Autosomal Recessive"
"Pseudohypoaldosteronism, Type II"
Erythematotelangiectatic Rosacea
Papulopustular Rosacea
"Micronuclei, Chromosome-Defective"
"Micronuclei, Genotoxicant-Induced"
"Plagiocephaly, Nonsynostotic"
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tibial Muscular Dystrophy
Pulmonary Histiocytosis X
Neurological ventriculitis
Acute fatty liver of pregnancy
Congenital hypoparathyroidism
Aortic valve sclerosis
Primary focal hyperhidrosis
Dental caries pit and fissure
Dental caries of smooth surface
Narcolepsy without cataplexy
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Fatty acid oxidation disorder
"Mitochondrial metabolism disorder, unspecified"
"Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)"
Other alcohol-induced mental disorders
Selective mutism specific to childhood and adolescence
Stimulant abuse
Crushing sensation
Absence of muscle
Genetic Brain Disorders
Vision Impairment and Blindness
Methamphetamine abuse
"Cancer, Benign"
Polio and Post-Polio Syndrome
Benign melanocytic nevus
Paranoia
Still's disease with juvenile onset and/or adult onset
Ventouse delivery (finding)
Ureteral Calculi
Diabetic foot ulcer
alpha^+^ Thalassemia
Sarcoid arthritis
Os trigonum disorder
Aggressive reaction
Congenital hypogammaglobulinemia
Bleeding tendency
Squamous odontogenic tumor
Mammary Neoplasms
Polypoidal choroidal vasculopathy
Allergic disorder of respiratory system
Diabetic macroangiopathy
Pulmonary arterial medial hypertrophy
Hippocampal sclerosis
Pyramidal Tract Dysfunction
Testotoxicosis
Idiopathic pneumonia syndrome
Cerebral artery stenosis
Infection by human herpesvirus 7
Acute lymphoblastic leukemia recurrent
Secondary epilepsy
Post transplant diabetes mellitus
Post transplant erythrocytosis
Cerebellitis
Pelvic insufficiency fracture
Retinal gliosis
Stenosis of middle cerebral artery
Partial chromosome Y deletion
Histiocytoma
Sclerosing hemangioma
Sense of smell altered
Osteosclerotic Myeloma
Gait Apraxia
Cavitation
childhood choroid plexus carcinoma
Cerebral abscess
Entrapment Neuropathies
Superficial Thrombophlebitis
Radiation Sickness
Acute ischemic heart disease
Chronic iridocyclitis
Dysacusis
Acrocephalosyndactylia
Orofaciodigital Syndrome I
Vitamin Deficiency
Drug Dependence
Diverticulosis
Neuralgic Amyotrophy
"Cerebral Amyloid Angiopathy, Hereditary"
Lens Opacities
Oxyphilic Adenoma
Fetal malnutrition without mention of light-for-dates
Autism Spectrum Disorders
Epididymal Adenocarcinoma
Breast Adenomyoepithelioma
Angiogenic Switch
Atypical neurofibroma
Benign Struma Ovarii
Breast Carcinoma with Choriocarcinomatous Features
Breast Diffuse Large B-Cell Lymphoma
cutaneous B-cell non-Hodgkin lymphoma
Desmoplastic
Differentiating Neuroblastoma
HER2 gene amplification
Grade II Meningioma
Grade I Meningioma
Hepatocarcinogenesis
Hereditary Melanoma
High Grade B-Cell Non-Hodgkin's Lymphoma
Cervical high grade squamous intraepithelial lesion
Human herpesvirus 8 infection
Increased Cellularity Present
Chronic Lymphoproliferative Disorder of NK-Cells
Infiltrating Urothelial Carcinoma
Mammary Tumorigenesis
Microcysts
Mild Adverse Event
Mixed Epithelial/Mesenchymal Metaplastic Breast Carcinoma
Mucin-Producing Intrahepatic Cholangiocarcinoma
Solid/Multicystic Ameloblastoma
Poorly Differentiated Neuroblastoma
Potassium Deficiency Disorder
"Glioblastoma, IDH-Wildtype"
Primary peritoneal carcinoma
Prostate Basal Cell Carcinoma
Prostate Stromal Proliferation of Uncertain Malignant Potential
Rete Testis Adenoma
Retinal hemangioblastoma
Surgically-Created Resection Cavity
Synchronous Bilateral Breast Carcinoma
Testicular gonadoblastoma
"Testicular Intratubular Germ Cell Neoplasia, Unclassified"
Astler-Coller B1 Rectal Carcinoma
B-Lymphoma Development
Cervical Mesonephric Adenocarcinoma
Cellular Congenital Mesoblastic Nephroma
Cholangiolocellular Carcinoma
Overt Primary Myelofibrosis
Prefibrotic/Early Primary Myelofibrosis
Serous Endometrial Intraepithelial Carcinoma
Endometrial Small Cell Carcinoma
Endometrial Undifferentiated Carcinoma
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
"Ganglioneuroblastoma, Intermixed"
"Ganglioneuroblastoma, Nodular"
Cervical Keratinizing Squamous Cell Carcinoma
Lipid-Rich Breast Carcinoma
Low Grade B-Cell Non-Hodgkin's Lymphoma
Low Grade Cervical Squamous Intraepithelial Neoplasia
Clear cell adenocarcinoma of ovary
Ovarian Fetiform Teratoma
Ovarian gonadoblastoma
"Ovarian Small Cell Carcinoma, Hypercalcemic Type"
Pancreatic Intraductal Papillary-Mucinous Adenoma
peak expiratory flow (procedure)
Peroxisome Proliferation
Pilomyxoid astrocytoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma
Salivary Gland Pleomorphic Adenoma
"Glioblastoma, IDH-Mutant"
Seminal Vesicle Adenocarcinoma
Skin Carcinogenesis
Skin Papule
Smoking Behaviors
Trisomy 4
Tumor-Associated Process
Tumor-Associated Vasculature
Tumor Angiogenesis
Tumor Cell Mobility
Tumor Expansion
Tumor Immunity
Tumor Promotion
Turcot Syndrome Type 1
Turcot Syndrome Type 2
Type II Endometrial Adenocarcinoma
Type I Endometrial Adenocarcinoma
Undifferentiated Neuroblastoma
Uterine Corpus Dissecting Leiomyoma
"Vulvar Deep ""Aggressive"" Angiomyxoma"
Mature T ALL
Hypercholesterolemia result
Hypermagnesemia result
"Leukemia, Large Granular Lymphocytic"
Transient Situational Disturbance
Depression and Suicide
Breast Adenolipoma
Bonnevie-Ullrich Syndrome
Angioblastic Meningioma
Radiation-induced disorder
Adrenomyeloneuropathy
Infantile paralysis
Dental Pulp Stone
Acanthocheilonemiasis
"Dysentery, Bacillary"
Chronic Airflow Obstruction
Allergic Reaction
spasmus nutans
Ametropia
Brain Edema
Alpha-Aminoadipic Semialdehyde Deficiency Disease
"Transient Ischemic Attack, Anterior Circulation"
Sjogren's Syndrome
"Familial Amyloid Polyneuropathy, Appalachian Type"
"Hereditary Cerebral Amyloid Angiopathy, Icelandic Type"
Voice Disturbance
Dysphonia
Brain Hypoxia
Ductal Breast Carcinoma
Hepatic Form of Wilson Disease
Phototoxicity
Salaam Seizures
Cystic Breast Disease
Morphea
Involuntary Quiver
Amniotic Bands
"Neoplasms, Intracranial"
Ogilvie Syndrome
Fibrocystic Disease of Pancreas
Narcotic Dependence
Female Pseudo-Turner Syndrome
Erythrocytosis
Eosinophilic Pneumonia
Thrombosis of retinal vein
Cervical Squamous Intraepithelial Neoplasia 1
Perinatal jaundice
Alpha carotene level
Chronic myeloid leukemia in lymphoid blast crisis
Dendritic cell neoplasm
Anterior segment ischemia
Smoldering myeloma
Cardioembolic stroke
Central topographic island
Cerebral ventriculomegaly
Currarino triad
A pattern strabismus
Paralytic rabies
Gossypiboma
Disorder of immune function
Infectious Endophthalmitis
Isoniazid resistant tuberculosis
Rifampicin resistant tuberculosis
Sarcoid uveitis
Histiocytic proliferation
Primary congenital glaucoma
Multifocal choroiditis
Eccrine Poroma
Disorder of cellular component of blood
Infantile nystagmus syndrome
"Acute myeloid leukemia, inv(16)(p13q22)"
Methamphetamine dependence
fertility disorders
Hydroxymethylglutaric aciduria
Malignant Paraganglionic Neoplasm
Pseudo-Zellweger syndrome
child neglect behavior
Disorder of skeletal muscle
ADENOMAS AND ADENOCARCINOMAS
Orthostatic intolerance
Nipah Virus Infection
Neurodevelopmental Disorders
Pneumocystis jiroveci pneumonia
Polyglandular Type III Autoimmune Syndrome
Gastrointestinal inflammation
Stenosis of foramen magnum
Cholestatic pruritus
Hyperchylomicronemia
Staphylococcal osteomyelitis
Lymphoma transformation
Dysbacteriosis
Osteoarticular pain
Sudden unexplained death in epilepsy
Geographic Atrophy
Negative myoclonus
Positive myoclonus
Central pain syndrome
Heart failure NYHA class II
Chocolate cyst of ovary
Chronic pelvic pain syndrome
Refractory angina pectoris
ST segment elevation myocardial infarction
Non ST segment elevation myocardial infarction
Non STEMI
Central areolar choroidal sclerosis
Deficiency of acetyl-CoA acetyltransferase
Bowenoid papulosis of penis
Arterial leg ulcer
cancer angiogenesis
"Schneiderian papilloma, inverted"
Cerebral seizure
Hypereosinophilic syndrome
Adult Giant Cell Glioblastoma
Adult Gliosarcoma
adult acute myeloid leukemia with inv(16)(p13;q22)
Adult Oligodendroglial Tumor
PRESENILE AND SENILE DEMENTIA
Infective endocarditis
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
bullous staphylococcal impetigo
Congenital erythroid hypoplasia
Acute Hemolytic Transfusion Reaction
Ocular surface disease
"Blurred Vision, CTCAE"
Adverse Event Associated with Cardiac Arrhythmia
Prolonged QTc interval
Chronic Kidney Diseases
Overweight and obesity
Anemia in chronic kidney disease
Anemia in end stage renal disease
Non-ST elevation (NSTEMI) myocardial infarction
"Fibrinogen, CTCAE"
Limbal stem cell deficiency
Valvular sclerosis
Undifferentiated inflammatory arthritis
Microspherophakia
Human T-cell Lymphoma Virus Type -1 associated uveitis
Right ventricular systolic dysfunction
Fleck corneal dystrophy
Retinochoroidopathy
Estrogen receptor positive tumor
Vein of Galen Malformations
"Leprosy, Multibacillary"
Congenital hereditary endothelial dystrophy
Acute cerebellar syndrome
Punctate epithelial keratitis
Retrocorneal fibrous membrane
Thiel-Behnke corneal dystrophy
Peripheral ulcerative keratitis
"Leprosy, Paucibacillary"
Hormone receptor positive tumor
"Congenital hereditary endothelial dystrophy,CHED 2"
"Dysarthria, Guttural"
DNA Repair-Deficiency Disorders
Chromosome Instability Syndromes
"Nephrogenic Diabetes Insipidus, Type I"
"Nephrogenic Diabetes Insipidus, Type II"
Myopathic Ophthalmopathy
Andersen Syndrome
Thyroid Dysgenesis
Genital Infantilism
Kallmann Syndrome 1
Kallmann Syndrome 2 (disorder)
Abdominal Cryptorchidism
Inguinal Cryptorchidism
adiposity
Atherogenesis
"Headache Disorders, Primary"
Mobility Limitation
Cholera Infantum
Renal Insufficiency
Acute Kidney Insufficiency
"Direct Hyperbilirubinemia, Neonatal"
"Indirect Hyperbilirubinemia, Neonatal"
Newborn physiological jaundice
Posterior Fossa Meningioma
Sphenoid Wing Meningioma
Icterus Gravis Neonatorum
Preterm Premature Rupture of Fetal Membranes
Delayed Graft Function
Granulosa Cell Cancer
Unilateral Multicystic Dysplastic Kidney
Bilateral Multicystic Dysplastic Kidneys
Polycystic Kidney - body part
Alport Syndrome
"Alport Syndrome, X-Linked"
"Alport Syndrome, Autosomal Dominant"
"Alport Syndrome, Autosomal Recessive"
"Usher Syndrome, Type I"
"Usher Syndrome, Type III"
"Usher Syndrome, Type II"
Tendinopathy
Tendinosis
Oral Mucositis
"Adenocarcinoma, Endometrioid"
Involutional paraphrenia
"Psychosis, Involutional"
Valgus deformities of feet
"Myxedema, Congenital"
Islet cell adenomatosis
Chronic uremia
Leg ischaemia
Retinal thrombosis
Autoimmune myocarditis
Megacystis microcolon intestinal hypoperistalsis syndrome
Malignant transformation
Head titubation
Compensated cirrhosis
Mycobacterium abscessus Infection
Optic nerve pallor
Mal de debarquement
Congenital absence of kidneys syndrome
Myelolipoma of adrenal gland
ADHF
Restrictive deficit on pulmonary function testing
Functional abdominal pain
Invasive Candidiasis
Latent Tuberculosis
Urethral atresia
Urinary tract inflammation
Circulatory depression
Uhthoff's phenomenon
Graft versus host disease in skin
Burkholderia cepacia Infection
Acinetobacter bacteraemia
Factor II mutation
Granulomatous infection
Lack of satiety
Thalamic infarction
Calcification of coronary artery
Congenital corneal dystrophy
Myosclerosis
Familial (FPAH)
Infection caused by Lassa virus
erythrocyte sedimentation rate result
Nephrogenic Fibrosing Dermopathy
RENAL ADYSPLASIA
Gastrointestinal telangiectasia
Cystatin C measurement
Decompensated cirrhosis of liver
Gout flare
Immune Reconstitution Inflammatory Syndrome
Lymphoepithelioid lymphoma (clinical)
Adrenal hyperplasia
Intermediate Maple Syrup Urine Disease
Glioblastoma Multiforme
Meretoja syndrome
Suxamethonium sensitivity
Lentiglobus
Portal cirrhosis
Neurocytoma
Adult Diffuse Small Cleaved Cell Lymphoma
Cirrhosis
Okihiro Syndrome
Electrocardiography
Paraneoplastic optic neuropathy
Follicular mycosis fungoides
Lattice corneal dystrophy Type II
Atypical Burkitt's lymphoma
Age at menopause
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)"
Complicated appendicitis
"Macular dystrophy, corneal type 1"
Groenouw corneal dystrophy type I (disorder)
Gelatinous droplike corneal dystrophy
Ectopia Lentis with Ectopia of Pupil
androgen independent prostate cancer
congenital muscle disorder
Early onset schizophrenia
tumor vasculature
Complete paraplegia
Intraoperative floppy iris syndrome
Cardiomyopathy associated with another disorder
Lattice corneal dystrophy Type I
Macular corneal dystrophy Type II (disorder)
Penile hypospadias
Cystic Kidney Diseases
Sensory hearing loss
Inflammatory polyarthritis
"Arthritis, Bacterial"
Non-dipping
Vertebral wedging
Cerebral hypoperfusion
Lewis-Sumner syndrome
Peritoneal Necrotic Lesion
Remitting seronegative symmetrical synovitis with pitting oedema syndrome
Hepatic calcification
Skin-picking
Prehypertension
Polyomavirus-associated nephropathy
obsolete Prominent epicanthal folds
Spontaneous hematomas
HIV peripheral neuropathy
Psoriatic conditions
BK virus nephropathy
Hypotestosteronism
Malignant Solid Neoplasm
Muscle Weakness Upper Limb
HCV coinfection
Acute promyelocytic leukaemia differentiation syndrome
Eosinophilic bronchitis
Mucosal Infection
Bacterial otitis media
Rokitansky Kuster Hauser syndrome
Small Intestinal Mucositis
Photodamaged skin
HER-2 positive breast cancer
EBV viremia
Associated Pulmonary Arterial Hypertension
Familial pulmonary arterial hypertension
"Pneumonia, Ventilator-Associated"
Embolus
Lipogranuloma
Basaloid carcinoma
Storiform-Pleomorphic Malignant Fibrous Histiocytoma
Dentinogenic Ghost Cell Tumor
Thyroid Gland Adenocarcinoma
Grade I Astrocytoma
Metastatic Malignant Neoplasm to the Leptomeninges
Trichodiscoma
Breast Lymphoma
Delusion of persecution
Benign Prostatic Hyperplasia
Endometrial Polyp
Intrauterine adhesions
Pyomyositis
"Hypobetalipoproteinemia, Familial, Apolipoprotein B"
Pyelonephritis acute necrotizing
Leukokeratosis
"Glomerulonephritis, Minimal Change"
"Nephrotic Syndrome, Minimal Change"
Paget's Disease of the Nipple
Bone Sarcoma
Osteoblastic Osteosarcoma
Dental Diseases
Apocrine cystadenoma
Enchondroma
Compulsive Personality Disorder
Carcinoma of Endocrine Gland
Hypophosphatemic Rickets
Uterine Corpus Carcinosarcoma
Bright Disease
Heymann Nephritis
Distal Renal Tubular Acidosis
Primary Lung Lymphoma
Hyperlipoproteinemia Type IIb
Skin Pigmentation Disorder
Milroy Disease
Hereditary lymphedema type II
"Hypoalphalipoproteinemia, Familial"
Urinary Schistosomiasis
Disorder of electrolytes
Peripheral Arterial Diseases
Oncocytic Schneiderian papilloma
Thyroid Gland Carcinoma Showing Thymus-Like Differentiation
Hyperparathyroidism-Jaw Tumor Syndrome
Neonatal Deformity
Flasher - visual manifestation
Anhydrotic Ectodermal Dysplasias
Sulfatidosis
Atopic IgE-mediated allergic disorder
Lipidemias
Primary intraocular non-Hodgkin malignant lymphoma
Cornea verticillata
"Pachyonychia Congenita, Jadassohn Lewandowsky Type"
Adult Extraskeletal Myxoid Chondrosarcoma
Aldosterone-Producing Adrenal Cortex Adenoma
Apocrine Carcinoma
Cancer Other
NUT midline carcinoma
Cellular Myxoma
Chondroid Hamartoma
Classic medulloblastoma
Colorectal Mucinous Adenocarcinoma
Colorectal Signet Ring Cell Carcinoma
Colorectal Small Cell Neuroendocrine Carcinoma
Columnar Cell Change of the Breast
Columnar Cell Hyperplasia of the Breast
Conventional Dermatofibrosarcoma Protuberans
Corneal Sensitivity
"Cutaneous Fibrous Histiocytoma, Epithelioid Variant"
Primary cutaneous gamma-delta T-cell lymphoma
Cutaneous Lymphomatoid Granulomatosis
Direct Contact Transmission Infection
Fetal Lung Adenocarcinoma
Functioning Pancreatic Neuroendocrine Tumor
Gardner Fibroma
HIV lipodystrophy
Hamartoma of Mature Cardiac Myocytes
Heavier Menses
Hereditary Diffuse Gastric Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Paraganglioma-Pheochromocytoma Syndrome
Histiocytoid Cardiomyopathy
Hydroa vacciniforme-like lymphoma
Indirect Contact Transmission Infection
Induced cataract
Intimal sarcoma
Intraocular Infection
Invasive Cutaneous Melanoma
Invasive Prostate Carcinoma
Keratocystic Odontogenic Tumor
Pericardial Solitary Fibrous Tumor
Low grade appendiceal mucinous neoplasm
Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes
Low grade myofibroblastic sarcoma
Lung Melanoma
mucoepidermoid carcinoma of lung
Sarcomatoid carcinoma of the lung
Lung Lymphoepithelioma-Like Carcinoma
Malignant Proliferating Pilar Tumor
Mediastinal Myeloid Sarcoma
Mediastinal Paraganglioma
Metastatic Adrenal Gland Pheochromocytoma
Mixed Somatotroph and Lactotroph Adenoma
Myxoinflammatory fibroblastic sarcoma
Nasopharyngeal Differentiated Carcinoma
Neoplastic C-Cell Hyperplasia
Desmoplastic Neurotropic Melanoma
Non-Neoplastic Disorder
Null Cell Pituitary Gland Adenoma
Osteofibrous Dysplasia
Papillary Thyroid Microcarcinoma
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Pleomorphic hyalinizing angiectatic tumor of soft tissue
Pleural Epithelioid Hemangioendothelioma
Pleural Sarcomatoid Mesothelioma
Pleural Synovial Sarcoma
Presymptomatic Cancer
"Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type"
Primary Focal Segmental Glomerulosclerosis
Primary Pulmonary Diffuse Large B-Cell Lymphoma
Prosthetic Valve Thrombosis
Pyloric Gland Adenoma
Pyothorax-Associated Lymphoma
Sarcomatoid Hepatocellular Carcinoma
Satellite Nodule
Sclerosing Epithelioid Fibrosarcoma
Secondary Focal Segmental Glomerulosclerosis
paranasal sinus and nasal cavity cancer
Sinonasal undifferentiated carcinoma
Sparsely Granulated Somatotroph Adenoma
Pleuropulmonary blastoma type III
Pleuropulmonary blastoma type I
Unilateral Breast Carcinoma
Sporadic Gastric Adenocarcinoma
carcinosarcoma of lung
Rectosigmoid Adenocarcinoma
Recurrent Adult Hepatocellular Carcinoma
Emphysema or COPD
Incisional pain
Refractory cytopenia with multilineage dysplasia (RCMD)
Hereditary amyloid nephropathy
Hereditary cardiac amyloidosis
Inherited systemic amyloidosis
Acquired torsion dystonia
Idiopathic transverse myelitis
Stress induced cardiomyopathy
"PERIODONTITIS, LOCALIZED AGGRESSIVE"
"Aggressive periodontitis, generalized"
Localized chronic periodontitis
Generalized chronic periodontitis
Other stomatitis and mucositis (ulcerative)
Severe Sepsis
Chronic post-thoracotomy pain
Hard drusen
Episodic ataxia type 1
With-the-rule astigmatism
Peripapillary atrophy
Pressure ulcer stage 4 (disorder)
AIDS-related small noncleaved cell lymphoma
Supranuclear gaze palsy
Central corneal thickness
Confluent drusen
Episodic Ataxia
Retinal pigment epithelium atrophy
Gonadotropin releasing factor deficiency
Simple ectopia lentis
Episodic ataxia type 2 (disorder)
"Papillary carcinoma, clear cell"
Soft drusen
"Follicular carcinoma, widely invasive"
Adult growth hormone deficiency
"Follicular carcinoma, clear cell"
Adult-onset growth hormone deficiency
Allergic disorder
AIDS-related immunoblastic large cell lymphoma
Subretinal fluid (finding)
Testicular Hydrocele
Hypoprebetalipoproteinemia
Renal tubular necrosis
Functional Laterality
Apolipoprotein C-II Deficiency (disorder)
Acute Bacterial Prostatitis
Asymptomatic Inflammatory Prostatitis
Chronic Bacterial Prostatitis
"Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency"
Tumor of Rete Testis
Endometrial Diseases
"Membranoproliferative Glomerulonephritis, Type III"
Sudden Cardiac Arrest
Painful Bladder Syndrome
"Familial Partial Lipodystrophy, Type 1"
"Familial Partial Lipodystrophy, Type 2"
"Familial Partial Lipodystrophy, Type 3"
Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 2
"Sulfatidosis, Juvenile, Austin Type"
Female Urogenital Diseases
"Hyper-IgM Immunodeficiency Syndrome, Type 2"
"Hyper-IgM Immunodeficiency Syndrome, Type 3"
"Hyper-IgM Immunodeficiency Syndrome, Type 5"
"Ectodermal Dysplasia 3, Anhidrotic"
Channelopathies
Eye Movement Measurements
"Leukokeratosis, Hereditary Mucosal"
"Keratoderma, Palmoplantar, Epidermolytic"
"Pachyonychia Congenita, Type 2 (disorder)"
Paraneoplastic Opsoclonus-Myoclonus Ataxia
Female Athlete Triad Syndrome
Brugada ECG Pattern
Replication Error Phenotype
Chronic Prostatitis with Chronic Pelvic Pain Syndrome
Acute dystonia
Acute uveitis
Progressive optic neuropathy
Chronic polyarthritis
Autoimmune inner ear disease
VACTERL Association
Intracardiac mass
Paraneoplastic dermatomyositis
SLE flare
Progression of adenocarcinoma
Chronic wheezing
Migraine with Typical Aura
Bland White Garland Syndrome
Recurrent deep vein thrombosis
Acute agranulocytosis
Chronic acidosis
Weakness worsened
Recurrent pulmonary embolism
Anti-MAG neuropathy
Progression of rheumatoid arthritis
Secondary hypoparathyroidism
Mesangioproliferative glomerulonephritis
Pemphigus herpetiformis
Progression of non-small cell lung cancer
Recurrent mycobacterium avium complex infections
Acute myeloid leukaemia progression
Acute pulmonary congestion
Dysmorphism
Platelet anisocytosis
Latent Autoimmune Diabetes in Adults
Fetus affected by placental transfer of anticonvulsant
Mucocutaneous herpes simplex
Progression of prostate cancer
Subacute necrotising encephalomyopathy
Prostatic Hypertrophy
Chronic iron overload
Angel shaped phalangoepiphyseal dysplasia
Birch pollen allergy
Urachal remnant
Thin glomerular basement membrane disease
Leydig cell insufficiency
Takotsubo Cardiomyopathy
CML progression
Acute coagulopathy
Cardiac autonomic neuropathy
Aortic wall hypertrophy
Exaggerated startle response
Slowly progressive insulin dependent diabetes
CLL progression
Acute migraine
T-lymphocyte deficiency
Congenital ectodermal dysplasia of face
Abnormal heart beat
Atrophy of optic disc
Aspiration pneumonitis
Conjunctival hyperemia
"Meningioma, benign, no ICD-O subtype"
RAPP-HODGKIN SYNDROME
Idiopathic Pulmonary Fibrosis
"Opitz-G syndrome, type 2"
Congenital muscular hypertrophy-cerebral syndrome
"Chromosome 5, trisomy 5q"
Increased CSF protein
Familial benign hypercalcemia
Aortic aneurysm and dissection
Variola major
Temperature instability
Feeding intolerance
RESTING HEART RATE
"DEAFNESS, AUTOSOMAL RECESSIVE 70"
Allergic fungal sinusitis
Refractory occipital lobe epilepsy
"Carcinoma of urinary bladder, invasive"
Extensively Drug-Resistant Tuberculosis
Slow acetylator due to N-acetyltransferase enzyme variant
Refractory infantile spasms
"Seminoma of testis, stage 1"
Wide spaced nipples
Disseminated Mycobacterium kansasii infection
"Tongue thrusting when swallowing, abnormal persistence beyond early childhood"
Refractory frontal lobe epilepsy
Luxation of lens
Fast acetylator due to N-acetyltransferase enzyme variant
Enzyme activity finding
IgE-mediated allergic asthma
Upper urinary tract infection
Neurofibroma of subcutaneous tissue
Barbiturate withdrawal
"Ovarian cancer, disseminated"
Intermittent hyperventilation
"Macular dystrophy, concentric annular"
Non dystrophic myotonia
Acute renal failure due to ischemia
Sinistrocardia
Paraneoplastic encephalitis
Tongue thrusting
Amino acidemias
Carnitine palmitoyl transferase 1A deficiency
Fatty acid oxidation defects
Phosphaturic Mesenchymal Tumor
Adult Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma
EPIDERMAL DIFFERENTIATION COMPLEX
Wilms tumor and radial bilateral aplasia
Short humerus
Fibular hypoplasia
Square face
Pursed lips
Metaphyseal rarefaction
Abnormality of temperature regulation
"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY"
"Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism"
BLOOD GROUP--FROESE
DOYNE HONEYCOMB RETINAL DYSTROPHY
"Cataract, Congenital, Cerulean Type, 2"
"Deafness, Autosomal Dominant 12"
Peroxisome biogenesis disorders
Athabaskan brainstem dysgenesis
Bosley-Salih-Alorainy Syndrome
Rieger syndrome 2 (disorder)
"Peroxisome Biogenesis Disorder, Complementation Group C"
"Agammaglobulinemia, non-Bruton type"
"CARDIOMYOPATHY, DILATED, 1D (disorder)"
"CARDIOMYOPATHY, DILATED, 1C (disorder)"
"OBESITY, MODIFIER OF"
"BODY MASS INDEX, MODIFIER OF"
"INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF"
Ribbing disease
"Charcot-Marie-Tooth disease, Type 2D"
Thenar muscle weakness
First dorsal interossei muscle weakness
First dorsal interossei muscle atrophy
Cold-induced hand cramps
INFLAMMATORY BOWEL DISEASE 2
"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive"
Failure to thrive secondary to recurrent infections
Recurrent opportunistic infections
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D"
Axonal loss
Talipes cavus equinovarus
Slow-growing hair
Oculoauriculofrontonasal syndrome
"MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED"
Retinitis Pigmentosa 18
"Diabetes Mellitus, Transient Neonatal, 1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2 (disorder)"
"Platelet Disorder, Familial, with Associated Myeloid Malignancy"
Van Maldergem Wetzburger Verloes syndrome
"DIABETES MELLITUS, INSULIN-DEPENDENT, 12"
"Deafness, Autosomal Recessive 12"
"Charcot-Marie-Tooth disease, Type 4B1"
Crisponi syndrome
"Cataract, Age-Related Nuclear"
"Deafness, Autosomal Dominant 9"
Digeorge Syndrome-Velocardiofacial Syndrome Complex 2
"MICROPHTHALMIA, SYNDROMIC 8"
Martinez-Frias Syndrome
Sparse eyebrow
Cranial hyperostosis
Hypoplastic sweat glands
"Atrophia Maculosa Varioliformis Cutis, Familial"
CAPOS syndrome
Renal dysplasia diffuse cystic
"Deafness, Autosomal Dominant 11"
"Deafness, Autosomal Dominant 10"
Limb-girdle muscular dystrophy type 2F
"CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT"
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder)"
"Lamellar ichthyosis, type 2"
RIPPLING MUSCLE DISEASE 2 (disorder)
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C"
"CEREBELLAR ATAXIA, CAYMAN TYPE"
"DERMATITIS HERPETIFORMIS, FAMILIAL"
"POLYPOSIS SYNDROME, HEREDITARY MIXED, 1"
Chromosome 11p11.2 Deletion Syndrome
"Neuronal Intestinal Dysplasia, Type B"
"Craniosynostosis, Philadelphia Type"
Verloes Bourguignon syndrome
Herniation of intervertebral nuclei
Narrow vertebral interpedicular distance
Naxos disease
Anterior polar cataract 2
"Hypocalcemia, Autosomal Dominant, with Bartter Syndrome"
"HYPERPARATHYROIDISM, NEONATAL SEVERE"
Hypoparathyroidism familial isolated
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO"
"SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)"
Dysfunction of lateral corticospinal tracts
"CARDIOMYOPATHY, DILATED, 1E"
"BRACHYDACTYLY, TYPE A2"
MULTIPLE SYNOSTOSES SYNDROME 2
"Rhabdomyolysis, Cerivastatin-Induced"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id"
Hypertrophic nerve changes
"Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation"
"Klippel-Feil deformity, conductive deafness, and absent vagina"
Klippel-Feil anomaly
"DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8"
"Deafness, Autosomal Recessive 9"
"Auditory Neuropathy, Nonsyndromic Recessive"
Absence of acoustic reflex
"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1"
"USHER SYNDROME, TYPE ID"
"CHOREOATHETOSIS/SPASTICITY, EPISODIC"
"Hemiplegic migraine, familial type 1"
"MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA"
"MIGRAINE, SPORADIC HEMIPLEGIC"
Timothy syndrome
Brody myopathy
"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2"
"DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)"
JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
"Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies"
Cone-Rod Dystrophy 5
"GLAUCOMA 3, PRIMARY INFANTILE, B"
"Deafness, Autosomal Recessive 7"
Absent or minimally ossified vertebral bodies
Metaphyseal spurs
"DEAFNESS, AUTOSOMAL RECESSIVE 6"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3"
"DEAFNESS, AUTOSOMAL DOMINANT 6"
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC"
Proprotein Convertase 1 3 Deficiency
"DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES"
"DIABETES MELLITUS, PERMANENT NEONATAL"
"Cataract, Pulverulent"
Marden Walker like syndrome
contracture of elbow
Slender long bone
Distal ulnar hypoplasia
Long Qt Syndrome 4
Abnormal delayed hypersensitivity skin test
Absent microvilli on the surface of peripheral blood lymphocytes
LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY
"Hyperferritinemia, hereditary, with congenital cataracts"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 8"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)"
Autoamputation
Dystrophic toenail
"Cataract, Congenital Zonular, with Sutural Opacities"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)"
Retinitis Pigmentosa 17
SCHIZOPHRENIA 4 (disorder)
"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative"
"FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED"
Frontal release signs
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V"
"CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL"
Rickets of the lower limbs
Sparse bone trabeculae
Thin bony cortex
Generalized bone demineralization
Enlarged epiphyses
Bulging epiphyses
"Increased serum 1,25-dihydroxyvitamin D3"
Synostotic Posterior Plagiocephaly
Sleep-wake cycle disturbance
"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III"
"Inclusion Body Myopathy, Autosomal Recessive"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)"
D-2-hydroxyglutaric aciduria
Subependymal cysts
Multifocal cerebral white matter abnormalities
"HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO"
Proximal Myopathy with Focal Depletion of Mitochondria
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5"
"Varicella, Severe Recurrent"
"Deafness, Autosomal Dominant 4"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL"
OROFACIAL CLEFT 7
Caroli disease isolated
UV-Sensitive Syndrome
"Cleft Lip, Congenital Healed"
CONE-ROD DYSTROPHY 1 (disorder)
"Craniosynostosis, Adelaide Type"
"ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC"
PAROXYSMAL EXTREME PAIN DISORDER
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
Elevated alkaline phosphatase of bone origin
"NEPHROLITHIASIS, CALCIUM OXALATE"
Otofaciocervical Syndrome
"OTITIS MEDIA, SUSCEPTIBILITY TO (finding)"
Otodental Dysplasia
"Osteopoikilosis, Isolated"
Carpal osteolysis
Osteolysis involving tarsal bones
"Osteogenesis imperfecta, Levin type"
Diaphyseal cortical sclerosis
Biconcave flattened vertebrae
"Femoral bowing present at birth, straightening with time"
Decreased calvarial ossification
"Optic Nerve Hypoplasia, Bilateral"
"Optic Nerve Aplasia, Bilateral"
"OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT"
Familial medullary thyroid carcinoma
"THYROID CARCINOMA, SPORADIC MEDULLARY"
"COLORECTAL CANCER, SOMATIC"
Retinal pigmentary degeneration
Odontoma dysphagia syndrome
Oculopharyngodistal Myopathy
Progressive ptosis
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Schilbach-Rott Syndrome
Hypoplasia of facial musculature
Underdeveloped nasal alae
Thin anteverted nares
Vertebral hyperostosis
Short middle phalanx of the 5th finger
3-4 toe syndactyly
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
Shield chest
Abnormal vertebral morphology
"Sick Sinus Syndrome 2, Autosomal Dominant"
"HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY"
"MYELOKATHEXIS, ISOLATED"
"Ceroid Lipofuscinosis, Neuronal, Parry Type"
"NEUROFIBROMATOSIS, FAMILIAL SPINAL"
Symmetric spinal nerve root neurofibromas
Inguinal freckling
"AMYOTROPHY, HEREDITARY NEURALGIC"
RETINITIS PIGMENTOSA 27
"Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type"
"Myopathy, Actin, Congenital, with Excess of Thin Myofilaments"
Periosteal thickening of long tubular bones
Narcolepsy 1
Thickening of the lateral border of the scapula
Glenoid fossa hypoplasia
Hypoplasia of first ribs
Abnormal iris pigmentation
Disproportionate prominence of the femoral medial condyle
Nail dysplasia
Myxoid subcutaneous tumors
Profuse pigmented skin lesions
Obsessive-compulsive trait
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10"
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
"CARDIOMYOPATHY, DILATED, 1S"
"ARTHROGRYPOSIS, DISTAL, TYPE 2B"
MYOPIA 2 (disorder)
Weakness of the intrinsic hand muscles
"Myopathy, Centronuclear, Autosomal Dominant"
"Continuous Muscle Fiber Activity, Hereditary"
Jankovic Rivera syndrome
Myoclonic dystonia
MYOCLONUS AND ATAXIA
"MYELOPROLIFERATIVE SYNDROME, TRANSIENT"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)"
"Nasal, dysarthic speech"
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
Facioscapulohumeral muscular dystrophy 1a
BETHLEM MYOPATHY 1
"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA"
Hyporeflexia of lower limbs
"Neuropathy, Distal Hereditary Motor, Type VIIA"
CEREBELLOPARENCHYMAL DISORDER VI
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Malignant genitourinary tract tumor
Cutaneous syndactyly of toes
"CORONARY ARTERY DISEASE, MODIFIER OF"
"CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)"
Macrosomia obesity macrocephaly ocular abnormalities
MYXOMATOUS MITRAL VALVE PROLAPSE 1
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1"
MIRROR MOVEMENTS 1
HOLOPROSENCEPHALY 2 (disorder)
Fusion of the left and right thalami
Cystic renal dysplasia
Lumbar kyphoscoliosis
Coronal cleft vertebrae
"Flattened, squared-off epiphyses of tubular bones"
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Irregular acetabular roof
Metaphyseal cupping of proximal phalanges
Prominent supraorbital arches in adult
"MESOMELIC DYSPLASIA, KANTAPUTRA TYPE"
"Melanosis, Universal"
Melanoma astrocytoma syndrome
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2"
"MELANOMA, CUTANEOUS MALIGNANT, 1"
"OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF"
Megaduodenum and-or Megacystis
"Masticatory Muscles, Hypertrophy of"
Macrodontia of permanent maxillary central incisor
Wide tufts of distal phalanges
Increased axial length of the globe
Premature osteoarthritis
Premature calcification of mitral annulus
Sparse lower eyelashes
"Hypomagnesemia 2, renal"
"MACULAR DYSTROPHY, ATYPICAL VITELLIFORM"
"MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1"
Thick corpus callosum
"PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding)"
Predominantly lower limb lymphedema
Slow-growing nails
Hyperkeratosis over edematous areas
"Lymphedema, microcephaly and chorioretinopathy syndrome"
"Lp(A) Deficiency, Congenital"
Labial pseudohypertrophy
Loss of truncal subcutaneous adipose tissue
Increased intramuscular fat
Increased intraabdominal fat
LI-FRAUMENI SYNDROME 1
"HEPATITIS C VIRUS, SUSCEPTIBILITY TO"
"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type"
Decreased cranial base ossification
Disc-like vertebral bodies
Severe limb shortening
Leri pleonosteosis
"Short stature, postnatal"
Progressive sclerosis of skull base
Diaphyseal thickening
"TOOTH AGENESIS, SELECTIVE, 4 (disorder)"
"Succedaneous Teeth, Agenesis Of"
Hypoplastic cervical vertebrae
Multiple carpal ossification centers
Bipartite calcaneus
Rib exostoses
Mild postnatal growth retardation
Multiple long-bone exostoses
Aplastic/hypoplastic lacrimal glands
LACRIMAL DUCT DEFECT
Hereditary Hyperexplexia
Keratosis palmoplantaris papulosa
TYLOSIS WITH ESOPHAGEAL CANCER
"Hyperkeratosis, diffuse palmoplantar (tylosis)"
Keratoderma palmoplantar spastic paralysis
Palmoplantar Keratoderma with Deafness
Keratoconus 1
Recurrent bacterial skin infections
Keratitis Fugax Hereditaria
"Keratitis, hereditary"
"CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)"
Widely-spaced maxillary central incisors
Vertebral arch anomaly
Crossed fused renal ectopia
Anoperineal fistula
Eversion of lateral third of lower eyelids
Prominent fingertip pads
"Kallikrein, Decreased Urinary Activity of"
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
"FANCONI ANEMIA, COMPLEMENTATION GROUP N"
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
HOLOPROSENCEPHALY 7
"Renal Hypodysplasia, Nonsyndromic, 1"
"Invasive Pneumococcal Disease, Recurrent Isolated, 1"
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Mitochondrial Phosphate Carrier Deficiency
"Congenital Disorder Of Glycosylation, Type Im"
"Ichthyosis with hypotrichosis, autosomal recessive"
"DEAFNESS, AUTOSOMAL RECESSIVE 68"
Cone-Rod Dystrophy 11
Normocytic hypoplastic anemia
Fluctuating hepatomegaly
Fluctuating splenomegaly
Triangular face
"DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)"
"Diarrhea 4, Malabsorptive, Congenital"
RETINITIS PIGMENTOSA 33 (disorder)
"SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)"
Retinal Cone Dystrophy 3B
"Epilepsy, Nocturnal Frontal Lobe, Type 4"
AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 3
Aminoacylase 1 deficiency
Retinitis Pigmentosa 31
"CARDIOMYOPATHY, DILATED, 1P"
"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY"
"Glaucoma 1, Open Angle, G"
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Loss of ability to walk in early childhood
Facial diplegia
NANOPHTHALMOS 2 (disorder)
"Spastic Paraplegia, Optic Atrophy, and Neuropathy"
Hyperreflexia proximally
"Drug Metabolism, Poor, CYP2C19-Related"
"Deafness, Autosomal Recessive 23"
Immunoglobulin a deficiency 2
"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
Poor head control
Long face
"Filaminopathy, autosomal dominant"
Muscle fiber splitting
"Amyotrophic Lateral Sclerosis, Chmp2B-Related"
"Stickler Syndrome, Type I, Nonsyndromic Ocular"
"RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT"
LEFT VENTRICULAR NONCOMPACTION 2
Al-Gazali Syndrome
"SARCOIDOSIS, EARLY-ONSET"
Goldberg-Shprintzen megacolon syndrome
Axial dystonia
Gait imbalance
Frontolimbic dementia
"Myopathy, Myofibrillar, Zasp-Related"
Progressive proximal muscle weakness
Generalized Epilepsy and Paroxysmal Dyskinesia
"Chondrodysplasia, acromesomelic, with genital anomalies"
Short femoral neck
Fibular aplasia
Widened proximal tibial metaphyses
Radial deviation of finger
Aplasia/Hypoplasia involving the metacarpal bones
Synostosis of carpal bones
Short toe
"DEAFNESS, AUTOSOMAL RECESSIVE 48"
"Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction"
Proximal/middle symphalangism of 5th finger
Aplasia/Hypoplasia of the hallux
Symphalangism affecting the phalanges of the hallux
Tukel syndrome
Carpal bone aplasia
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO"
"HIV-1, RESISTANCE TO"
"ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO"
"AIDS, PROGRESSION TO"
Preeclampsia Eclampsia 4
Congenital bilateral ptosis
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
"SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)"
Muscle Weakness Lower Limb
Carotid Intimal Medial Thickness 1
Generalized joint laxity
Proximal femoral metaphyseal irregularity
"Teratoid Tumor, Atypical"
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K"
SPINOCEREBELLAR ATAXIA 27
Dysmetric saccades
Abnormality of ocular smooth pursuit
SPINOCEREBELLAR ATAXIA 26
"B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations"
Familial neurocardiogenic syncope
"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3"
Increased serum lactate
Nemaline myopathy 4
Nemaline myopathy 1
Distal lower limb muscle weakness
Distal lower limb amyotrophy
"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2"
Nemaline myopathy 6
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7"
Saccadic smooth pursuit
Li-Fraumeni Syndrome 2
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)"
Generalized tonic seizures
Senior-Loken Syndrome 5
"Schindler Disease, Type II"
White mater abnormalities in the posterior periventricular region
Distal sensory impairment of all modalities
Increased urinary O-linked sialopeptides
Depressed nasal bridge
Thick vermilion border
"Schindler Disease, Type I"
"Schindler Disease, Type III"
"GRISCELLI SYNDROME, TYPE 3"
Silver-gray hair
Decreased hip abduction
Macrocephaly at birth
Bruck syndrome 2
Foveal Hypoplasia and Anterior Segment Dysgenesis
Progressive distal muscle weakness
Decreased circulating cortisol level
"SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)"
Loeys-Dietz Aortic Aneurysm Syndrome
Dermal translucency
Generalized arterial tortuosity
Ascending aortic dissection
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If"
"Total Hypotrichosis, Mari type"
Short distal phalanx of the 5th finger
Abnormality of the middle ear ossicles
"Erythrokeratoderma, Reticular"
"Czech dysplasia, metatarsal type"
Narrow iliac wings
"Striatal Degeneration, Autosomal Dominant"
Lower limb hyperreflexia
"Pseudohyperkalemia, Familial, 2, due to Red Cell Leak"
"Hyperthyroidism, Nonautoimmune"
"MALARIA, MILD, SUSCEPTIBILITY TO"
"Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum"
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)"
"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"
hypopigmented skin patch
White eyelashes
White eyebrow
Absent brainstem auditory responses
"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1"
Abnormal speech discrimination
"ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)"
"LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)"
Proximal lower limb amyotrophy
Decreased movement range in interphalangeal joints
Mild disease course
"TELOMERE LENGTH, MEAN LEUKOCYTE"
PANCREATIC AND CEREBELLAR AGENESIS
Tortuous cerebral arteries
Combined Oxidative Phosphorylation Deficiency 1
Mild microcephaly
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Amish Infantile Epilepsy Syndrome
Developmental stagnation at onset of seizures
Developmental regression
Hyporeflexia of upper limbs
Psychomotor deterioration
Progressive inability to walk
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Vacuolated lymphocytes
"FANCONI ANEMIA, COMPLEMENTATION GROUP J"
"FANCONI ANEMIA, COMPLEMENTATION GROUP I"
Broad ischia
Pierson syndrome
Hypoplasia of the ciliary body
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3"
"SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder)"
Spastic/hyperactive bladder
"Arrhythmogenic Right Ventricular Dysplasia, Familial, 9"
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Gastrointestinal dysmotility
Bone spicule pigmentation of the retina
Emanuel syndrome
Low-set nipples
Thickened nuchal skin fold
Peripheral Cone Dystrophy
Disproportionate tall stature
"DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT"
PREMATURE OVARIAN FAILURE 3 (disorder)
"Atrial Fibrillation, Familial, 3"
"ATAXIA, SENSORY, AUTOSOMAL DOMINANT"
"Gait instability, worse in the dark"
"CATARACT, CONGENITAL, CERULEAN TYPE, 3"
MEACHAM SYNDROME (disorder)
"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive"
"Macular Dystrophy, Butterfly-Shaped Pigmentary, 2"
"CD8 Deficiency, Familial"
Recurrent viral infection
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Hypoplastic inferior ilia
Tibial bowing
Metaphyseal cupping
Short metacarpal
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"
"Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency"
Easy fatigability
Decreased muscle mass
"Myasthenic Syndrome, Congenital, Fast-Channel"
Poor suck
MYOPIA 6 (disorder)
Alzheimer Disease 9
"Drug Metabolism, Poor, CYP2D6-Related"
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3"
"MACULAR DEGENERATION, AGE-RELATED, 3"
"WAARDENBURG SYNDROME, TYPE IID"
"Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly"
OROFACIAL CLEFT 5
"OROFACIAL CLEFT 6, SUSCEPTIBILITY TO"
"Cleft lip, isolated"
"Cleft palate, isolated"
"Muscular Dystrophy, Congenital, Type 1D"
Carney Complex Variant
Intracerebral periventricular calcifications
Antenatal intracerebral hemorrhage
"Malformations of Cortical Development, Group II"
Basal ganglia cysts
Macrovesicular hepatic steatosis
Lipid accumulation in hepatocytes
Prominent forehead
Increased muscle lipid content
Long-chain dicarboxylic aciduria
Hypoplastic toenails
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 1"
Alpha-B Crystallinopathy
Decreased Achilles reflex
"Transposition of the Great Arteries, Dextro-Looped 1"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J"
Childhood onset
"Leukodystrophy, Hypomyelinating, 2"
Sudden Infant Death with Dysgenesis of the Testes Syndrome
Partial development of the penile shaft
Dysplastic testes
Abnormal pattern of respiration
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie"
Severe global developmental delay
Flat occiput
"High, narrow palate"
Hypoplasia involving bones of the upper limbs
Ankle contracture
MOYAMOYA DISEASE 3
Pyruvate dehydrogenase phosphatase deficiency
SPINOCEREBELLAR ATAXIA 8
Impaired smooth pursuit
"SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3"
Narrow face
Small eyes
Excessive skin wrinkling on dorsum of hands and fingers
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8"
Insulin-Like Growth Factor I Deficiency
"Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related"
Thoracic hypoplasia
Posterior rib cupping
Flat acetabular roof
Dysplastic iliac wings
Axonal degeneration
"Microcephaly, Primary Autosomal Recessive, 5"
Small cerebral cortex
Progressive loss of facial adipose tissue
Decreased serum complement C3
Spinocerebellar ataxia 25
Abolished vibration sense
Impaired pain sensation
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Fused labia minora
SPINOCEREBELLAR ATAXIA 20
"SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)"
"Prostate Cancer, Hereditary, 4"
Painless fractures due to injury
"DEAFNESS, AUTOSOMAL RECESSIVE 32"
ICHTHYOSIS PREMATURITY SYNDROME
"Ciliary Dyskinesia, Primary, 5"
"CILIARY DYSKINESIA, PRIMARY, 3"
Intermittent hypothermia
"Deafness, Autosomal Dominant 28"
Impaired ability to form peer relationships
Lack of spontaneous play
Inflexible adherence to routines or rituals
"Spondyloepiphyseal dysplasia, Omani type"
Gross motor development delay
Progressive intervertebral space narrowing
JOUBERT SYNDROME 3
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
Overfolded helix
Thickened helices
Broad lateral eyebrow
"Hypertension, Diastolic, Resistance to"
Oligodontia-Colorectal Cancer Syndrome
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
Progressive clavicular acroosteolysis
Bird-like facies
Narrow nasal ridge
Decreased adipose tissue around neck
Loss of subcutaneous adipose tissue in limbs
Loss of facial adipose tissue
Sparse hair
Increased subcutaneous truncal adipose tissue
Prominent superficial veins
Insulin-resistant diabetes mellitus at puberty
Prominent umbilicus
Generalized muscular appearance from birth
Decreased serum leptin
"Charcot-Marie-Tooth disease, axonal, Type 2G"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2"
Cerebrofrontofacial Syndrome
Burn-Mckeown syndrome
Coloboma of inferior eyelid
Ulnar-Fibular Ray Defect and Brachydactyly
Bilateral talipes equinovarus
4-5 toe syndactyly
"CARDIOMYOPATHY, DILATED, 1O"
"SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE"
"DEAFNESS, AUTOSOMAL RECESSIVE 35"
"LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO"
LEBER CONGENITAL AMAUROSIS 9 (disorder)
Larsen-Like Syndrome
Absent nasal bridge
SCHIZOPHRENIA 12
Type I transferrin isoform profile
"ERYTHROCYTOSIS, FAMILIAL, 2"
"Corneal Dystrophy, Lattice Type IIIA"
"Colorectal Adenomatous Polyposis, Autosomal Recessive"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3"
Incomprehensible speech
"Epilepsy, Nocturnal Frontal Lobe, Type 1"
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Focal sensory auditory seizure
SCHIZOPHRENIA 3 (disorder)
ABCD syndrome
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)"
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
Generalized limb muscle atrophy
Mesomelia-synostoses syndrome
OSLER-RENDU-WEBER SYNDROME 2
Nail bed telangiectasia
CODAS syndrome
Squared iliac bones
"SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)"
"SPINAL MUSCULAR ATROPHY, TYPE IV"
Band Heterotopia of Brain
"TIBIAL MUSCULAR DYSTROPHY, TARDIVE"
RIPPLING MUSCLE DISEASE 1
Serpentine fibula polycystic kidney syndrome
Osteopetrosis and infantile neuroaxonal dystrophy
"DIABETES MELLITUS, INSULIN-DEPENDENT, 7"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 5"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 4"
"Deafness, Autosomal Recessive 3"
"Epiphyseal dysplasia, multiple, 1"
Pick Complex
"Primitive reflexes (palmomental, snout, glabellar)"
Hyperorality
"Polycystic kidneys, severe infantile with tuberous sclerosis"
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
"HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4"
Oculomaxillofacial dysostosis
"Diffuse palmoplantar keratoderma, Bothnian type"
Limb hypertonia
"CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY"
"Epiphyseal dysplasia, multiple, 2"
"VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL"
ICHTHYOSIS EXFOLIATIVA
"FANCONI ANEMIA, COMPLEMENTATION GROUP D1"
"SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)"
NANOPHTHALMOS 1
"LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)"
"CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE"
MELANOMA-PANCREATIC CANCER SYNDROME
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2"
Sacral defect and anterior sacral meningocele
Caudal Dysgenesis Syndrome
"CEROID LIPOFUSCINOSIS, NEURONAL, 8"
"Ceroid Lipofuscinosis, Neuronal, 7"
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Progressive encephalopathy
Pseudobulbar signs
Retinitis Pigmentosa 11
Retinitis Pigmentosa 14
"EPILEPSY, CHILDHOOD ABSENCE, 1"
Radial aplasia
Aplasia of the 1st metacarpal
"Rhizomelic chondrodysplasia punctata, type 3"
Warburg Sjo Fledelius syndrome
Stargardt disease 3
RETINITIS PIGMENTOSA 12 (disorder)
SPLIT-HAND/FOOT MALFORMATION 3
Nivelon Nivelon Mabille syndrome
"Macrocytosis, Familial"
"Vitamin D Hydroxylation-Deficient Rickets, Type 1B"
Deformed rib cage
Metaphyseal irregularity
Enlargement of the wrists
Enlargement of the ankles
"Myelocytic leukemia-like syndrome, familial, chronic"
Rapidly progressive
"DEAFNESS, AUTOSOMAL RECESSIVE 2"
Retinitis Pigmentosa 13
Bladder Exstrophy and Epispadias Complex
Anteriorly placed anus
Eiken Skeletal Dysplasia
"MUSCLE STIFFNESS, PAINFUL"
"DEAFNESS, AMINOGLYCOSIDE-INDUCED"
"PARKINSON DISEASE, MITOCHONDRIAL (disorder)"
Corticospinal tract atrophy
"MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE"
"Myoglobinuria, Recurrent"
"ATAXIA AND POLYNEUROPATHY, ADULT-ONSET"
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
"STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA"
MITOCHONDRIAL COMPLEX I DEFICIENCY
"ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL"
Episodic vomiting
"Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial"
"Striatonigral Degeneration, Infantile, Mitochondrial"
Decreased light- and dark-adapted electroretinogram amplitude
Mitochondrial Myopathy with Diabetes
Weakness of orbicularis oculi muscle
LEBER OPTIC ATROPHY AND DYSTONIA
Upper motor neuron dysfunction
"Spermatogenic Failure, Nonobstructive, Y-Linked"
"MENTAL RETARDATION, X-LINKED 89"
Say Meyer syndrome
Premature posterior fontanelle closure
"Dystonia 3, Torsion, X-Linked"
Thyroxine-Binding Globulin Deficiency
"Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis"
THROMBOCYTOPENIA 1 (disorder)
"Thrombocytopenia, X-Linked, Intermittent"
Intermittent thrombocytopenia
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
Hypoplasia of the capital femoral epiphysis
SPLIT-HAND/FOOT MALFORMATION 2
"Bulbo-Spinal Atrophy, X-Linked"
"SPASTIC PARAPLEGIA 2, X-LINKED (disorder)"
Duplication of renal pelvis
Birth length greater than 97th percentile
Broad secondary alveolar ridge
Submucous cleft lip
Six lumbar vertebrae
Two carpal ossification centers present at birth
Decreased proportion of CD4-positive T cells
Decreased proportion of CD8-positive T cells
Abnormal form of the vertebral bodies
"Rett Syndrome, Preserved Speech Variant"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2"
Abnormal T-wave
Peripheral cystoid retinal degeneration
Progressive visual loss
Pyruvate Dehydrogenase E1 Alpha Deficiency
Severe lactic acidosis
Chronic lactic acidosis
"PROPERDIN DEFICIENCY, X-LINKED"
"Properdin Deficiency, Type II"
"Properdin Deficiency, Type III"
Dysfunctional alternative complement pathway
TARP syndrome
Thick skull base
Limited knee flexion
Protein avoidance
Low plasma citrulline
Hyperglutaminemia
Episodic ammonia intoxication
Microretrognathia
Jensen syndrome
Optic Atrophy Spastic Paraplegia Syndrome
"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5"
OPTIC ATROPHY 2 (disorder)
"Nystagmus 1, congenital, X- linked"
Proximal tubulopathy
Low-molecular-weight proteinuria
"MYOPIA 1, X-LINKED"
X-linked myopathy with excessive autophagy
Severe muscular hypotonia
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Calf muscle pseudohypertrophy
"AUTISM, SEVERE"
Mental Retardation with Spastic Paraplegia
METACARPAL 4-5 FUSION
Prieto X-linked mental retardation syndrome
11 pairs of ribs
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
Thick lower lip vermilion
Paroxysmal bursts of laughter
Narrow forehead
Triangular nasal tip
Tented upper lip vermilion
FRAGILE X TREMOR/ATAXIA SYNDROME
"Macroorchidism, postpubertal"
Large forehead
Folate-dependent fragile site at Xq28
Deep philtrum
Long nose
Long neck
Anterior concavity of thoracic vertebrae
Short distal phalanx of finger
Frontal hirsutism
Noncompaction cardiomyopathy
MAJOR AFFECTIVE DISORDER 2
"MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE"
"SPERMATOGENIC FAILURE, X-LINKED, 2"
Periventricular cysts
Elevated amniotic fluid alpha-fetoprotein
Bicarbonaturia
Elevated serum acid phosphatase
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
"Leiomyomatosis, esophageal and vulval, with nephropathy"
Decreased activity of the pyruvate dehydrogenase complex
"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED"
IRIS HYPOPLASIA WITH GLAUCOMA
Retinal fibrosis
Multiple impacted teeth
Reduced natural killer cell activity
Increased IgM level
Ichthyosis follicularis atrichia photophobia syndrome
Mild intrauterine growth retardation
Elevated 8-dehydrocholesterol
Elevated 8(9)-cholestenol
SMALL PATELLA SYNDROME
Hypoplasia of the lesser trochanter
Patellar hypoplasia
Sandal gap
Anteverted nostril
"ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO"
Pectoralis major hypoplasia
Limited wrist movement
Limited interphalangeal movement
"DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO"
"CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO"
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Midnasal stenosis
"IgE RESPONSIVENESS, ATOPIC"
"ATOPY, SUSCEPTIBILITY TO (finding)"
IMMUNE SUPPRESSION
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
LEBER CONGENITAL AMAUROSIS 11
"Ichthyosis hystrix, Curth Macklin type"
Hypotrichosis Simplex of Scalp
Distal shortening of limbs
Short 4th metacarpal
Midline facial capillary hemangioma
Laryngeal cleft
Redundant neck skin
HYPOPHOSPHATEMIC BONE DISEASE
ODONTOHYPOPHOSPHATASIA (disorder)
Barakat syndrome
"Hypoparathyroidism, Autosomal Recessive"
"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)"
"Hypocalciuric Hypercalcemia, Acquired"
"HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)"
"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY"
King Denborough syndrome
Mixed respiratory and metabolic acidosis
Elevated systolic blood pressure
Elevated diastolic blood pressure
Elevated mean arterial pressure
Cerebellar vermis hypoplasia
Persistent cavum septum pellucidum
Abnormality of the ureter
"Pseudohypoaldosteronism, Type IIa"
"Pseudohypoaldosteronism, Type IIb"
"Pseudohypoaldosteronism, Type IIc"
"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE"
Renal hamartoma
HYPERPARATHYROIDISM 1
"Parathyroid Adenoma, Familial"
Hyperostosis Cranialis Interna
Thickened cortex of long bones
Metacarpal diaphyseal endosteal sclerosis
Metatarsal diaphyseal endosteal sclerosis
HEREDITARY RENAL CANCER ASSOCIATED 1
"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)"
Isolated hyperchlorhidrosis
"Orthostatic Hypotensive Disorder, Streeten Type"
"MULTICYSTIC RENAL DYSPLASIA, BILATERAL"
Hyaloideoretinal degeneration of Wagner
Mild myopia
Retinal pigment epithelial atrophy
HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 3
Abnormality of the carpal bones
"Hip Dysplasia, Congenital, Nonsyndromic"
"Hidradenitis suppurativa, familial"
"HIP DYSPLASIA, BEUKES TYPE"
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2
"Hepatic Adenomas, Familial"
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
Short mandibular rami
Heme Oxygenase 1 Deficiency
"Progressive Familial Heart Block, Type II"
Hand foot uterus syndrome
Longitudinal vaginal septum
Delayed ossification of carpal bones
Pseudoepiphyses
Absent hallux
Short first metatarsal
ACHROMATOPSIA 4
"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1"
Glucocorticoid Receptor Deficiency
"Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance"
"BODY COMPOSITION, BENEFICIAL"
GLOMUVENOUS MALFORMATIONS
Aplasia of the vagina
"GLAUCOMA 1, OPEN ANGLE, E"
"GLAUCOMA 1, OPEN ANGLE, A"
"IRIDOGONIODYSGENESIS, TYPE 2"
Giant Platelet Syndrome with Thrombocytopenia
GIANT PIGMENTED HAIRY NEVUS
Prominent supraorbital ridges
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F"
Prolonged Electroretinal Response Suppression
Abnormality of the ribs
Posterior rib fusion
Platelet Glycoprotein IV Deficiency
"Microcephaly, Primary Autosomal Recessive, 6"
BRANCHIOOTIC SYNDROME 3 (disorder)
Retinitis Pigmentosa 26
Nonsyndromic sensorineural hearing loss
Progressive hearing impairment
"Spondyloepiphyseal Dysplasia, Kimberley Type"
Irregular vertebral endplates
Sclerotic vertebral body
Flat capital femoral epiphysis
"MYOPATHY, MYOSIN STORAGE (disorder)"
Scapuloperoneal weakness
Scapuloperoneal amyotrophy
Centrally nucleated skeletal muscle fibers
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
"Charcot-Marie-Tooth Disease, Recessive Intermediate A"
Broad metacarpals
Broad metatarsal
"Charcot-Marie-Tooth Disease, Dominant Intermediate C"
"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1"
"DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)"
"Slowed Nerve Conduction Velocity, Autosomal Dominant"
HERMANSKY-PUDLAK SYNDROME 2
Central hypotonia
Low anterior hairline
"DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)"
"Epilepsy, Benign Neonatal, 3"
Neutrophil Immunodeficiency Syndrome
TROPICAL CALCIFIC PANCREATITIS
Insulin-dependent but ketosis-resistant diabetes
Pancreatic calcification
increased risk of pancreatic cancer
Synpolydactyly 2
"AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding)"
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Nablus mask-like facial syndrome
"Uniparental disomy, paternal, chromosome 14"
Retinitis Pigmentosa 7
"Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc"
Impaired Ig class switch recombination
"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp"
DYSTONIA 18 (disorder)
Limb-girdle muscle atrophy
"Heterotopia, Periventricular, Autosomal Recessive"
"Temporal epilepsy, familial"
JOUBERT SYNDROME 2
Abnormal corpus callosum morphology
Sensory axonal neuropathy
SCHIZOPHRENIA 11
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6 (disorder)"
Small earlobe
Hypoplastic helices
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
Hypoplasia of the brainstem
Diaphanospondylodysostosis
Absent in utero rib ossification
Posterior rib gap
Absent in utero ossification of vertebral bodies
"GAUCHER DISEASE, PERINATAL LETHAL"
Desquamation of skin soon after birth
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Hypermelanotic macule
Recurrent upper and lower respiratory tract infections
Atrial septal defect 2
"Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like"
RETINITIS PIGMENTOSA 30
Cardiac conduction abnormality
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii"
HYPOTRICHOSIS 6
"EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2"
Chromosome 1p36 Deletion Syndrome
Depressed nasal ridge
Short 5th finger
Dilated aortic root
Caudal Duplication Anomaly
"Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency"
Adult-Onset Vitelliform Macular Dystrophy
"Neutropenia, Nonimmune Chronic Idiopathic, Adult"
"AURAL ATRESIA, CONGENITAL"
"Deafness, Autosomal Dominant 48"
"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1"
NEUROTICISM
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K"
"Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k"
"MITRAL VALVE PROLAPSE, MYXOMATOUS 2"
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Absent eyelashes
"Alzheimer disease, familial, type 3"
"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques"
"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia"
"Deafness, Autosomal Recessive 37"
Craniolenticulosutural Dysplasia
Calf muscle hypertrophy
"Charcot-Marie-Tooth Disease, Dominant Intermediate D"
Segmental peripheral demyelination/remyelination
Acrocapitofemoral Dysplasia
Enlargement of the distal femoral epiphysis
Short palm
Broad nail
"Bile acid synthesis defect, congenital, 1"
"Hypercholanemia, Familial"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 3"
Normal interictal EEG
"Charcot-Marie-Tooth disease, Type 2J"
Progressive sensorineural hearing impairment
"Charcot-Marie-Tooth disease, demyelinating, Type 1F"
Myelin outfoldings
Clusters of axonal regeneration
Hyperreflexia in upper limbs
Noonan syndrome-like disorder with loose anagen hair
"Charcot-Marie-Tooth disease, Type 4A, axonal form"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)"
Hypotrophy of the small hand muscles
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2"
"Charcot-Marie-Tooth disease, Type 1D (disorder)"
IRAK4 Deficiency
"DYSTONIA 13, TORSION"
Tubulointerstitial nephritis and uveitis
Acute Tubulointerstitial Nephritis
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale
Sparse eyelashes
"Neuronopathy, Distal Hereditary Motor, Type Viib"
Van Buchem disease type 2
"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1"
Generalized osteosclerosis
"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS"
Orthokeratosis
"NIEMANN-PICK DISEASE, TYPE C2"
Poor school performance
Vertical supranuclear gaze palsy
Foam cells in visceral organs and CNS
Reduced delayed hypersensitivity
Accumulation of melanosomes in melanocytes
Melanin pigment aggregation in hair shafts
Death in childhood
Diffuse reticular or finely nodular infiltrations
"Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis"
Epidermolysis Bullosa Simplex Superficialis
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy
Bilateral microphthalmos
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells
Hypoplasia of the ventral pons
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
Retinal arteriolar tortuosity
"T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC"
"SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder)"
Tip-toe gait
"LEPROSY, SUSCEPTIBILITY TO, 2"
Neck flexor weakness
Nocturnal hypoventilation
"Spastic Paraplegia, Ataxia, And Mental Retardation"
Urinary bladder sphincter dysfunction
Large sella turcica
"ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)"
Axial muscle weakness
Increased variability in muscle fiber diameter
"LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO"
"Camptosynpolydactyly, Complex"
"TOENAIL DYSTROPHY, ISOLATED"
"CARDIOMYOPATHY, DILATED, 1N"
"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED"
Progressive language deterioration
"Basal ganglia disease, biotin-responsive"
"CARDIOMYOPATHY, DILATED, 1M"
Newfoundland Rod-Cone Dystrophy
Bothnia Retinal Dystrophy
"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2"
"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
Atrophy/Degeneration involving the spinal cord
Sensory ataxic neuropathy
Vestibular dysfunction
SPINOCEREBELLAR ATAXIA 18
Progressive gait ataxia
GIL BLOOD GROUP
SPINOCEREBELLAR ATAXIA 21
Microsaccadic pursuit
"Deafness, Autosomal Dominant 44"
"Arrhythmogenic Right Ventricular Dysplasia, Familial, 8"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder)
COENZYME Q10 DEFICIENCY
Postural instability
"Mental Retardation, Autosomal Recessive 2"
Trapezoidal distal femoral condyles
Shortening of the talar neck
Flattening of the talar dome
Enteroviral hepatitis
"Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction"
Corticospinal tract hypoplasia
Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
"HETEROTAXY, VISCERAL, 1, X-LINKED"
Persistent bleeding after trauma
"Granulomatous Disease, Chronic, X-Linked"
Recurrent bacterial infection
Recurrent fungal infections
Absence of bactericidal oxidative respiratory burst in phagocytes
Deficiency or absence of cytochrome b(-245)
Decreased activity of NADPH oxidase
Pointed chin
Large foramen magnum
Antegonial notching of mandible
Anteriorly placed odontoid process
Increased density of long bone diaphyses
Partial fusion of carpals
Partial fusion of tarsals
Clitoral hypoplasia
Midclavicular aplasia
Midclavicular hypoplasia
Oesophageal papilloma
Cleft ala nasi
Hypoplastic finger
Absent fingernail
Absent toenail
Medial flaring of the eyebrow
Increased upper to lower segment ratio
Curved linear dimple below the lower lip
Large earlobe
Hyperextensibility of the finger joints
"Exudative Vitreoretinopathy, Familial, X-Linked Recessive"
Soft skin
Molluscoid pseudotumors
Periorbital wrinkles
Periorbital hyperpigmentation
Skin peeling/scaling (newborn)
Hypoplastic-absent sebaceous glands
Aplasia/Hypoplastia of the eccrine sweat glands
Anal mucosal leukoplakia
X-linked Dyggve-Melchior-Clausen syndrome
Unexplained fevers
"ISLETS OF LANGERHANS, ABSENCE OF"
Immune dysregulation
Dermoids of cornea
"DEAFNESS, X-LINKED 1 (disorder)"
Progressive hearing loss stapes fixation
DEAFNESS-HYPOGONADISM SYNDROME
Pelvic bone exostoses
Limited knee extension
"OTOPALATODIGITAL SYNDROME, TYPE II"
Vertical clivus
Platyspondyly
Rudimentary fibula
Radial deviation of the 2nd finger
Nonossified fifth metatarsal
Unilateral breast hypoplasia
Hypoplastic nasal tip
Hemihypotrophy of lower limb
Axillary pterygium
Butterfly vertebrae
Block vertebrae
"CONE-ROD DYSTROPHY, X-LINKED, 1"
"CONE DYSTROPHY, X-LINKED, 1"
Weight less than 3rd percentile
Thick nasal alae
Thick nasal septum
Widely spaced teeth
Lumbar kyphosis
Range of joint movement increased
Drumstick terminal phalanges
Hyperconvex fingernails
"CLEFT PALATE, X-LINKED"
Cleft Palate with Ankyloglossia
Ayazi syndrome
Stippled calcification in carpal bones
Tarsal stippling
Brachytelephalangic Chondrodysplasia Punctata
Short nasal septum
Abruzzo Erickson syndrome
"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)"
Catel Manzke syndrome
Ulnar deviation of the 2nd finger
Broad finger
Recurrent infections in infancy and early childhood
Intermittent lactic acidemia
Hypoplasia of the prostate
Cervical spinal canal stenosis
Scheuermann-like vertebral changes
"Arthrogryposis multiplex congenita, distal, X-linked"
Episodic respiratory distress
Episodic hypoventilation
Left ventricular septal hypertrophy
Neural tube defects X-linked
"Spina Bifida, X-Linked"
"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA"
Nonprogressive cerebellar ataxia
"PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS"
"AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1"
"Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth"
"ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED"
"ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)"
"Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked"
"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)"
"Lymphoproliferative Syndrome, X-Linked, 2"
"DEAFNESS, X-LINKED 5 (disorder)"
Hyperekplexia and Epilepsy
Premature Ovarian Failure 2b
Prominent median palatal raphe
Exaggerated median tongue furrow
Hyperkyphosis
Immunodeficiency without anhidrotic ectodermal dysplasia
"SHORT STATURE, IDIOPATHIC, X-LINKED"
Generalized neonatal hypotonia
"MENTAL RETARDATION, X-LINKED 91 (disorder)"
"Mental Retardation, X-Linked 92"
"Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate"
Hypoplasia of the frontal bone
"Glycogen Storage Disease, Type IXD"
Exercise-induced myoglobinuria
PARKINSON DISEASE 12
Dent Disease 2
"Hypophosphatemic Rickets, X-Linked Recessive"
Renal phosphate wasting
"MENTAL RETARDATION, X-LINKED 78"
Nephrogenic Syndrome of Inappropriate Antidiuresis
Decreased circulating renin level
"Heterotopia, Periventricular, Ehlers-Danlos Variant"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE"
Lower limb hypertonia
Indolence
Outbursts
Small forehead
Facial hypotonia
Prominent antihelix
Abnormal conjugate eye movement
Martin-Probst Deafness-Mental Retardation Syndrome
"MENTAL RETARDATION, X-LINKED 82"
"FANCONI ANEMIA, COMPLEMENTATION GROUP B"
Premature Ovarian Failure 2a
Ovarian Dysgenesis 2
Premature Ovarian Failure 4
"MENTAL RETARDATION, X-LINKED 84"
"Mental Retardation, X-Linked 45"
"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)"
"AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)"
Lack of peer relationships
"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)"
"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders"
"Spinal Muscular Atrophy, Distal, X-Linked 3"
"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance"
Disorganization of the anterior cerebellar vermis
Retrocerebellar cyst
"CONE-ROD DYSTROPHY, X-LINKED, 3"
Contiguous Abcd1-Dxs1375e Deletion Syndrome
"Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia"
Cupped ears (finding)
"MENTAL RETARDATION, X-LINKED 77"
"Mental Retardation, X-Linked 46"
Stocco dos Santos syndrome
"MENTAL RETARDATION, X-LINKED 81"
"AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)"
"AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)"
"Mental Retardation, X-Linked, with Epilepsy"
FG SYNDROME 4 (disorder)
FG SYNDROME 3
Unilateral chest hypoplasia
Recurrent bacterial meningitis
Lymphoid depletion
RETINITIS PIGMENTOSA 3
Perisylvian syndrome
"Mental Retardation, X-Linked 63"
"MENTAL RETARDATION, X-LINKED 42"
Dyserythropoietic Anemia with Thrombocytopenia
"MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)"
Coarse facial features
"MENTAL RETARDATION, X-LINKED 73"
"MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT"
"Creatine deficiency, X-linked"
Poor hand-eye coordination
Irregularly spaced teeth
"MENTAL RETARDATION, X-LINKED 53"
"Lesch-Nyhan Syndrome, Neurologic Variant"
FG SYNDROME 2
"AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder)"
"Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema"
X- linked recessive
"Neutropenia, Severe Congenital, X-Linked"
"Ectodermal dysplasia, hypohidrotic, with immune deficiency"
"HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC"
"Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies"
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
Pugilistic facies
Marked muscular hypertrophy
Progressive pes cavus
Euthyroid multinodular goiter
"MENTAL RETARDATION, X-LINKED 72"
"SPASTIC PARAPLEGIA 16, X-LINKED (disorder)"
Siderius X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome
Roifman syndrome
Infancy onset short-trunk short stature
Terminal Osseous Dysplasia and Pigmentary Defects
"Mental retardation X-linked, South African type"
Photosensitive tonic-clonic seizures
Loss of ability to walk in first decade
Autistic features
HOYERAAL-HREIDARSSON SYNDROME
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 11"
"Intellectual disability, progressive"
Widened subarachnoid space
Anterior rib cupping
Cone-shaped capital femoral epiphysis
Myotubular Myopathy with Abnormal Genital Development
"Lissencephaly, X-Linked, 2"
Hydranencephaly and Abnormal Genitalia
"Mental Retardation, X-Linked 58"
"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)"
Hyperactive deep tendon reflexes
Adrenal hypoplasia
Absence of pubertal development
"Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis"
"Microphthalmia, syndromic 2"
Laterally curved eyebrow
"MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)"
Recurrent hypoglycemia
Juvenile-onset dystonia
Externally rotated hips
"Bartter syndrome, type 3"
"Bartter Syndrome, Type 3, with Hypocalciuria"
Hyperactive renin-angiotensin system
Renal salt wasting
Renal potassium wasting
Impaired reabsorption of chloride
Increased urinary potassium
Hyperchloriduria
Meckel syndrome type 3
Spinocerebellar ataxia 19
FOCAL CORTICAL DYSPLASIA OF TAYLOR
"Focal Cortical Dysplasia of Taylor, Type IIa"
"Focal Cortical Dysplasia of Taylor, Type IIb"
Lathosterolosis
Bilobate gallbladder
Thick upper lip vermilion
SMITH-MCCORT DYSPLASIA
Prominent sternum
Hypoplastic scapulae
Disproportionate short-trunk short stature
Deformed sella turcica
Hypoplastic facial bones
Hypoplasia of the odontoid process
Hypoplastic acetabulae
Delayed femoral head ossification
Multicentric femoral head ossification
Irregular epiphyses
Abnormality of the outer ear
Impaired ocular abduction
Impaired ocular adduction
Globe retraction and deviation on adduction
Palpebral fissure narrowing on adduction
Aplasia of metacarpal bones
Small thenar eminence
Pectoralis hypoplasia
Upper limb muscle hypoplasia
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4"
"Gaze Palsy, Familial Horizontal, with Progressive Scoliosis"
CONE-ROD DYSTROPHY 10
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1"
Autoimmune Lymphoproliferative Syndrome Type 2B
Recurrent sinopulmonary infections
Decreased T cell activation
Defective B cell activation
"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE"
Degeneration of the lateral corticospinal tracts
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY"
"Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration"
Hemiclonic seizures
Thyroid Dyshormonogenesis 6
"DEAFNESS, AUTOSOMAL RECESSIVE (disorder)"
"MICROCEPHALY, AMISH TYPE (disorder)"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I"
Thigh hypertrophy
"SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)"
MOYAMOYA DISEASE 2
SPINOCEREBELLAR ATAXIA 17
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
"Deafness, Autosomal Recessive 30"
JOUBERT SYNDROME 4 (disorder)
Anauxetic dysplasia
Cervical subluxation
Small epiphyses
Abnormality of coagulation
"Aortic Aneurysm, Familial Thoracic 2"
"DEAFNESS, AUTOSOMAL RECESSIVE 31"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5"
Delayed tarsal ossification
PARKINSON DISEASE 8 (disorder)
Substantia nigra gliosis
Parkinsonism with favorable response to dopaminergic medication
"Deafness, Autosomal Recessive 22"
Compensatory chin elevation
Short middle phalanx of finger
SENIOR-LOKEN SYNDROME 4
Senior-Loken Syndrome 3
NEPHRONOPHTHISIS 4
"ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)"
"USHER SYNDROME, TYPE IG"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5"
Dilated fourth ventricle
"ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE"
Morning myoclonic jerks
Generalized tonic-clonic seizures on awakening
Absent scaphoid
"Vascular Malformation, Primary Intraosseous"
ALZHEIMER DISEASE 4
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 1"
"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL"
PARKINSON DISEASE 10
Aplasia/Hypoplasia of the ribs
Absence of lymph node germinal center
"Digital Arthropathy-Brachydactyly, Familial"
Brachytelomesophalangy
Abnormal oral glucose tolerance
Glut1 Deficiency Syndrome
Paroxysmal lethargy
Postnatal microcephaly
Paroxysmal involuntary eye movements
Hyperopic astigmatism
"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3"
"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2"
"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET"
"Azoospermia, Nonobstructive"
"CILIARY DYSKINESIA, PRIMARY, 2 (disorder)"
"Hyperinsulinemic hypoglycemia, familial, 6"
SECKEL SYNDROME 2
Distal sensory impairment
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4"
Van der Woude syndrome 2
Deficit in phonologic short-term memory
"Deafness, Autosomal Dominant 36"
"Dyskinesia, Familial, with Facial Myokymia"
KUFOR-RAKEB SYNDROME
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Rapidly progressive dementia
"CARDIOMYOPATHY, DILATED, 1L"
"NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO"
Hypermethioninemia due to deficiency of glycine N-methyltransferase
SPINOCEREBELLAR ATAXIA 15
"GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)"
"MUSCULAR DYSTROPHY, CONGENITAL, 1C"
Cerebellar cyst
Shoulder girdle muscle atrophy
Waardenburg Syndrome Type 1
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F"
LIG4 Syndrome
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
"Oculocutaneous Albinism, Type IV"
"ICHTHYOSIS, LAMELLAR, 5"
Generalized aminoaciduria
PHACE association
X-linked dominant inheritance
Anomalous branches of internal carotid artery
"Charcot-Marie-Tooth Disease, Dominant Intermediate A"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)"
Onion bulb formation
OVARIOLEUKODYSTROPHY
Persistent Polyclonal B-Cell Lymphocytosis
HUNTINGTON DISEASE-LIKE 2
Ehlers-Danlos syndrome caused by tenascin-X deficiency
Hypotonia-Cystinuria Syndrome
"Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency"
Lissencephaly and agenesis of corpus callosum
"MENTAL RETARDATION, X-LINKED 50"
"Spondyloepimetaphyseal Dysplasia, X-Linked"
Narrow pelvis bone
Long ulna
Long fibula
"EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)"
"X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A"
"Female external genitalia in individual with 46,XY karyotype"
Blind vagina
Absent facial hair
X-Linked Lissencephaly
"SUBCORTICAL BAND HETEROTOPIA, X-LINKED"
Subcortical Band Heterotopia
"DEAFNESS, X-LINKED 4 (disorder)"
Poor speech
"Periventricular Heterotopia, X-Linked"
DOSAGE-SENSITIVE SEX REVERSAL
Dent disease 1
Posterior pharyngeal cleft
Zunich neuroectodermal syndrome
Large for gestational age
"Xeroderma pigmentosum, variant type"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E"
Xanthine nephrolithiasis
"WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS"
C1-C2 subluxation
Poor motor coordination
Atypical or prolonged hepatitis
High nonceruloplasmin-bound serum copper
Whistling appearance
Premature arteriosclerosis
Pierre Robin syndrome with fetal chondrodysplasia
Short fourth metatarsal
"WAARDENBURG SYNDROME, TYPE 4A"
"von Willebrand Disease, Recessive Form"
Pontocerebellar Hypoplasia Type 2A
Extrapyramidal dyskinesia
Hypoplasia of the pons
Ataxia with vitamin E deficiency
"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1"
Bulging of the costochondral junction
"Methylmalonic Aciduria and Homocystinuria, CblD Type"
"Homocystinuria, CblD Type, Variant 1"
"Methylmalonic Aciduria, CblD Type, Variant 2"
Hypomethioninemia
Decreased adenosylcobalamin
Methylmalonic acidemia with homocystinuria
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)"
Decreased methylmalonyl-CoA mutase activity
Decreased methionine synthase activity
Visceral myopathy familial external ophthalmoplegia
Isolated hypoplasia of the right ventricle
Mesoaxial polydactyly
Central Y-shaped metacarpal
VACTERL Association With Hydrocephalus
Vater Association With Hydrocephalus
"USHER SYNDROME, TYPE IC"
Vestibular hypofunction
"USHER SYNDROME, TYPE IIA"
"USHER SYNDROME, TYPE IB (disorder)"
"USHER SYNDROME, TYPE IA, FORMERLY"
"USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY"
Profound sensorineural hearing loss
Al Awadi syndrome
Anteriorly displaced genitalia
Broad ribs
Long ear
Aplastic pubic bones
Aplasia/Hypoplasia of the phalanges of the hand
Aplasia/Hypoplasia of the tarsal bones
Hypoplastic feet
4-Hydroxyphenylpyruvic aciduria
4-hydroxyphenylacetic aciduria
Episodic peripheral neuropathy
Elevated hepatic transaminase
Elevated urinary delta-aminolevulinic acid
"Developmental delay, mild"
Distal amyotrophy
Oliver-McFarlane syndrome
Increased anterioposterior diameter of thorax
Overtubulated long bones
Prominent superficial blood vessels
Epidermal hyperkeratosis
"Thyrotropin, Biologically Inactive"
"GRAVES DISEASE, SUSCEPTIBILITY TO, 1"
Thyroid defect in oxidation and organification of iodide
Thyroid Dyshormonogenesis 1
Bilateral radial aplasia
Nevus flammeus of the forehead
Hyperthreoninemia
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Absent external genitalia
Abnormality of the diaphragm
Peripheral pulmonary vessel aplasia
"TESTES, RUDIMENTARY"
"Tay-Sachs Disease, Juvenile"
"Hexosaminidase A Deficiency, Adult Type"
"Tay-Sachs Disease, Variant B1"
GM2-ganglioside accumulation
Hexosaminidase alpha-Subunit Deficiency (Variant B)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
COLD-INDUCED SWEATING SYNDROME 1
Generalized dystonia
Increased urinary sulfite
Decreased urinary sulfate
Mild eczema
Short upper lip
Developmental stagnation
"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE"
Broad femoral neck
Short metatarsal
Oval face
Hypoplastic iliac body
Metaphyseal widening
"Soft, doughy skin"
Short iliac bones
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Relative macrocephaly
Lumbar interpedicular narrowing
Metaphyseal striations
Broad forehead
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3"
Cochlear degeneration
Infantile onset spinocerebellar ataxia
Loss of ability to walk
"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)"
Premature graying of body hair
"Spastic paraplegia 15, autosomal recessive"
Impaired vibration sensation in the lower limbs
"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE"
Progressive truncal ataxia
Loss of Purkinje cells in the cerebellar vermis
Decreased sensory nerve conduction velocity
Hypermyelinated retinal nerve fibers
Swan neck-like deformities of the fingers
Spastic Ataxia
Resistance to Insulin-Like Growth Factor I
"Long, smooth philtrum"
Frontal lobe hypoplasia
Periventricular gray matter heterotopia
Elevated 7-dehydrocholesterol
Severe photosensitivity
PEELING SKIN SYNDROME
Opacification of the corneal epithelium
Generalized hirsutism
Fair hair
Cleft of chin
"Severe combined immunodeficiency, atypical"
Abnormality of B cell physiology
Facial palsy secondary to cranial hyperostosis
Sclerotic scapulae
Overgrowth
Cortically dense long tubular bones
Snail-like ilia
Advanced ossification of carpal bones
Advanced tarsal ossification
Hypoplastic labia minora
Widely patent fontanelles and sutures
Aplasia/Hypoplasia of the pubic bone
Increased density of long bones
Wide distal femoral metaphysis
Short 1st metacarpal
Premature separation of centromeric heterochromatin
"Sandhoff Disease, Adult Type"
"Sandhoff Disease, Juvenile Type"
"Sandhoff Disease, Infantile Type"
Forearm reduction defects
"Robinow syndrome, autosomal recessive"
Long palpebral fissure
Triangular mouth
Duplication of the distal phalanx of hand
Richieri Costa Pereira syndrome
Cleft lower alveolar ridge
Abnormality of the aryepiglottic fold
Enlarged labia minora
Absent earlobe
Nasal bridge wide
Tetraphocomelia
Midface capillary hemangioma
Rhabdomyosarcoma 1
"Myoglobinuria, Acute Recurrent, Autosomal Recessive"
"Rh-Null, Regulator Type"
Ridged fingernail
Enhanced S-Cone Syndrome
Retinoschisis of Fovea
Knobloch syndrome
Macular hypoplasia
Lack of T cell function
"Renal tubular acidosis, distal, type 3"
Mainzer-Saldino Disease
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)"
Rapadilino syndrome
Increased red cell osmotic fragility
Neuronal loss in the cerebral cortex
Increased serum pyruvate
Increased serum alanine
"Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to"
"EPILEPSY, PYRIDOXINE-DEPENDENT"
Prenatal movement abnormality
Pygmy (disorder)
Persistent open anterior fontanelle
Delayed eruption of primary teeth
Delayed eruption of permanent teeth
Osteolytic defects of the distal phalanges of the hand
"LYMPHANGIECTASIA, PULMONARY, CONGENITAL"
Progressive pulmonary function impairment
Absence of labia majora
Neck pterygia
Anterior clefting of vertebral bodies
Dysplastic patella
Accelerated atherosclerosis
Wide nasal base
Numerous nevi
Peroxisomal ACYL-COA oxidase deficiency
No social interaction
Diffuse hepatic steatosis
Progesterone Resistance
Hyperphenylalaninemia with primapterinuria
Midgut malrotation
Pink urine
"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE"
"Polyglucosan Body Disease, Adult Form"
Underfolded helix
Peripheral thrombosis
"Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia"
Absence of renal corticomedullary differentiation
Periportal fibrosis
Kowarski syndrome
Achromatopsia 3
Pili torti developmental delay neurological abnormalities
"Glycogen Storage Disease of Heart, Lethal Congenital"
"Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial"
Generalized hypopigmentation
Phenylpyruvic acidemia
Persistent Mullerian duct syndrome
Disproportionate short-limb short stature
Agenesis of maxillary lateral incisor
Square pelvis bone
Limited elbow movement
Calcific stippling
Presentey Anomaly
"Pericardial Effusion, Chronic"
Pelviscapular dysplasia
Facial hirsutism
Anterior rounding of vertebral bodies
Prominent protruding coccyx
Absent proximal finger flexion creases
Clinodactyly of the 5th finger
"Pelizaeus-Merzbacher-like disease, autosomal recessive, 2"
PEHO syndrome
"Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome"
Undetectable visual evoked potentials
"Supranuclear Palsy, Progressive, 1, Atypical"
Irregular ossification at anterior rib ends
Narrow sacroiliac notch
"Pancreatic Agenesis, Congenital"
"PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)"
RAINE SYNDROME
"Osteopetrosis, mild autosomal recessive form"
"Osteopetrosis, Autosomal Recessive 1"
Sandwich appearance of vertebral bodies
Flared metaphysis
TORG-WINCHESTER SYNDROME
Interphalangeal joint erosions
Widened metacarpal shaft
Thin metacarpal cortices
Thin metatarsal cortices
Bruck syndrome 1
"OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)"
Neonatal short-limb short stature
Bowing of limbs due to multiple fractures
Superiorly displaced ears
Posterior polar cataract
Posterior scalloping of vertebral bodies
Median cleft lip
Short tibia
OPTIC ATROPHY 6 (disorder)
Severe platyspondyly
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE"
Mildly elevated creatine phosphokinase
Omodysplasia type 1
Labial hypoplasia
Bifid uterus
Single interphalangeal crease of fifth finger
Mosaic variegated aneuploidy syndrome 1
Hypodysplasia of the corpus callosum
"Microcephaly, severe"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B"
"Niemann-Pick Disease, Nova Scotian Type"
NEUTROPHIL ACTIN DYSFUNCTION
"Neuropathy, Painful"
GIANT AXONAL NEUROPATHY 1
"Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive"
NAVAJO NEUROHEPATOPATHY
Navajo Familial Neurogenic Arthropathy
Reye syndrome-like episodes
Microvesicular hepatic steatosis
Postural hypotension with compensatory tachycardia
"CEROID LIPOFUSCINOSIS, NEURONAL, 5"
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
"CEROID LIPOFUSCINOSIS, NEURONAL, 1"
Progressive microcephaly
Neuronal loss in central nervous system
"Yellow subcutaneous tissue covered by thin, scaly skin"
"Edema, generalized"
Hypernatremic dehydration
Atelosteogenesis type 2
De La Chapelle Dysplasia
Horizontal sacrum
Nakajo syndrome
Nemaline Myopathy 2
Slender build
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency
Abnormality of brainstem morphology
Native American myopathy
Nasodigitoacoustic syndrome
Exaggerated cupid's bow
Broad distal phalanx of finger
Short 3rd metacarpal
"Atrial myxoma, familial"
Long eyelashes in irregular rows
Anterior bowing of long bones
Firm muscles
Irregular femoral epiphysis
Muscle hypertrophy of the lower extremities
"Myosclerosis, Autosomal Recessive"
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
"Myopathy, Hyaline Body, Autosomal Recessive"
"MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE"
Recurrent encephalopathy
Transient hyperlipidemia
"Myopathy, congenital nonprogressive with Moebius and Robin sequences"
"EPILEPSY, PROGRESSIVE MYOCLONIC 2B"
Visual auras
Reduced leukocyte alkaline phosphatase
Congenital myasthenic syndrome ib
Proximal amyotrophy
Miyoshi myopathy
Decreased/absent ankle reflexes
Exercise-induced myalgia
Muscle fiber necrosis
Distal joint laxity
Hyperextensibility at wrists
Increased laxity of ankles
Increased laxity of fingers
Hypoplasia of the pyramidal tract
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B"
Familial primary gastric lymphoma
"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY"
"Corneal dystrophy, Fuchs' endothelial, 1"
Anterior basal encephalocele
Median cleft palate
Frontal cutaneous lipoma
"Foveal Hypoplasia, Isolated"
Normal motor development
Broad columella
Severe expressive language delay
Agenesis of the anterior commissure
Lumbosacral hirsutism
LAURIN-SANDROW SYNDROME
"Laurin-Sandrow Syndrome, Segmental"
"Fibrosis Of Extraocular Muscles, Congenital, 1"
Levator palpebrae superioris atrophy
Superior rectus atrophy
Jones syndrome
"Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia"
"Desmoid disease, hereditary"
Progressive cervical vertebral spine fusion
Small cervical vertebral bodies
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
Fibrinolytic Defect
Ectopia lentis isolated
Abnormality of the renal collecting system
Aplasia/hypoplasia of the femur
Limited shoulder movement
"Iron Overload, Autosomal Dominant"
"Familial Mediterranean Fever, Autosomal Dominant"
Facial Hypertrichosis
Exudative vitreoretinopathy 1
Peripheral retinal avascularization
"EXOSTOSES, MULTIPLE, TYPE II"
Peripheral nerve compression
Scapular exostoses
Protuberances at ends of long bones
Madelung-like forearm deformities
Subcortical white matter calcifications
Cerebellar calcifications
Cerebrooculofacioskeletal Syndrome 3
Greither Disease
Erythrokeratodermia with ataxia
"Aortic aneurysm, familial thoracic 4"
Ancell-Spiegler cylindromas
"Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness"
Limited hip movement
Benign Occipital Epilepsy
Mottled pigmentation of the trunk and proximal extremities
Discrete 2 to 5-mm hyper- and hypopigmented macules
Skin fragility with non-scarring blistering
Transient bullous dermolysis of the newborn
Childhood Ependymoma
"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA"
Narrowing of medullary canal
Pancreatic islet cell adenoma
Confetti-like hypopigmented macules
LATERAL MENINGOCELE SYNDROME
Dural ectasia
Sclerosis of skull base
Adrenocortical cytomegaly
Overgrowth of external genitalia
Pancreatic hyperplasia
Metopic ridge
ELLIPTOCYTOSIS 2 (disorder)
Poor wound healing
Aplasia/Hypoplasia of the earlobes
Palmoplantar cutis gyrata
EDS VIIB
Premature delivery because of cervical insufficiency or membrane fragility
Hypermobility of distal interphalangeal joints
Cigarette-paper scars
Premature birth following premature rupture of fetal membranes
Narrow maxilla
"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1"
Ectodermal dysplasia adrenal cyst
Midline notch of upper alveolar ridge
OROFACIAL CLEFT 8
"Small, conical teeth"
Progressive alopecia
Anterior creases of earlobe
Dopa-Responsive Dystonia
Paroxysmal choreoathetosis
"DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)"
"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT"
Lewy Body Variant of Alzheimer Disease
Fluctuations in consciousness
"DYSLEXIA, SUSCEPTIBILITY TO, 1"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT"
Reticular hyperpigmentation
Dorsal subluxation of ulna
Dwarfism tall vertebrae
Malattia Leventinese
"Drusen, Radial, Autosomal Dominant"
"Doughnut Lesions of Skull, Familial"
Digitotalar Dysmorphism
"INSULIN RESISTANCE, SUSCEPTIBILITY TO"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 2"
"Maturity-Onset Diabetes of the Young, Type 1"
KERATOSIS PALMOPLANTARIS STRIATA II
Familial dermographism
DERMODISTORTIVE URTICARIA
Reticulate pigmentation of oral mucosa
"Fingerprints, Absence of"
Periapical bone loss
MAJOR AFFECTIVE DISORDER 1
"Failure of Tooth Eruption, Primary"
Nonarteritic anterior ischemic optic neuropathy (NAION)
OPTIC ATROPHY 1 AND DEAFNESS
Auditory neuropathy
"DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)"
Autoamputation of digits
"Darier Disease, Acral Hemorrhagic Type"
"Darier Disease, Segmental"
Plantar pits
Subungual hyperkeratotic fragments
"ALDOSTERONE TO RENIN RATIO, INCREASED"
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
Mitochondrial encephalopathy
Cutis Gyrata Syndrome of Beare And Stevenson
Prominent scrotal raphe
Preauricular skin furrow
"Cataract, Variable Zonular Pulverulent"
"CATARACT, COPPOCK-LIKE"
"Cataract, Autosomal Dominant Nuclear"
"Cryptophthalmos, Unilateral or Bilateral, Isolated"
Abnormality of the cervical spine
"Creutzfeldt-Jakob Disease, Sporadic"
Extrapyramidal muscular rigidity
Loss of facial expression
"CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT"
Misalignment of teeth
Craniofacial deafness hand syndrome
Corticosteroid-Binding Globulin Deficiency
Hypoplastic male external genitalia
"Coronary Artery Dissection, Spontaneous"
Absent retinal pigment epithelium
Epithelial Recurrent Erosion Dystrophy
"CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT"
CORNEA PLANA 1
"EPILEPSY, BENIGN NEONATAL, 2"
"Arthrogryposis, distal, type 2E"
"Complement Component 4, Partial Deficiency Of"
Papillorenal syndrome
Hereditary macular coloboma
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2"
OI-EDS Combined Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
"EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE"
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Cornelia de Lange Syndrome 3
CEREBROOCULOFACIOSKELETAL SYNDROME 4
Cerebrooculofacioskeletal Syndrome 2
ALOPECIA AREATA 2
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)"
Severe congenital neutropenia
Noonan Syndrome 4
"NEPHROTIC SYNDROME, TYPE 3"
Neutral Lipid Storage Disease with Myopathy
BRACHYDACTYLY-SYNDACTYLY SYNDROME
OPTIC ATROPHY 5 (disorder)
Slow decrease in visual acuity
"Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia"
"MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)"
JOUBERT SYNDROME 6
Nemaline Myopathy 7
Osteogenesis Imperfecta Type VII
Multiple prenatal fractures
Interhemispheric cysts
Recurrent skin infections
"Prostate Cancer, Hereditary, 7"
COLD-INDUCED SWEATING SYNDROME 2
"PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO"
Glycosylphosphatidylinositol deficiency
RETINITIS PIGMENTOSA 35
"Pachygyria, frontotemporal"
"Deafness, Autosomal Recessive 67"
"Aphakia, congenital primary"
Anterior segment of eye aplasia
Sclerocornea
Isolated cases
Conotruncal defect
Flat face
Midface retrusion
Eversion of lower lip
"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT"
SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 23
"Spastic Paraplegia 33, Autosomal Dominant"
Synpolydactyly 3
Hyperostosis-hyperphosphatemia syndrome
Seborrhea-Like Dermatitis with Psoriasiform Elements
"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY"
"Deafness, Autosomal Recessive 28"
Bleeding Disorder Due To P2RY12 Defect
"Erythrocytosis, Familial, 3"
Increased red blood cell mass
"SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION"
"Peeling skin syndrome, acral type"
"AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)"
Enlarged cisterna magna
"Interleukin 2 Receptor, Alpha, Deficiency of"
Gaze-evoked horizontal nystagmus
Primary lateral sclerosis juvenile
Spasticity of pharyngeal muscles
Spasticity of facial muscles
Difficulty in tongue movements
INFLAMMATORY BOWEL DISEASE 5
"Heterotaxy, Visceral, 3, Autosomal"
"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET"
Pear-shaped nose
Widow's peak
Thick eyebrow
"Thyroid Carcinoma, Nonmedullary 1"
22q13.3 Deletion Syndrome
"Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations"
"ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2"
"Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome"
Radiation induced meningioma
Alzheimer Disease 7
Jerky ocular pursuit movements
"Developmental Delay, Epilepsy, and Neonatal Diabetes"
Genitopatellar Syndrome
Hypoplastic inferior pubic rami
Neuroferritinopathy
Perivascular spaces
Fryns-Aftimos Syndrome
Broad neck
"Anemia, Diamond-Blackfan, 2"
Rippling muscle disease
Muscle hyperirritability
Muscle mounding
"HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)"
"MYOPATHY, DISTAL 2"
"HEMOCHROMATOSIS, TYPE 4"
"Congenital Disorder Of Glycosylation, Type IIB"
Prominent occiput
Long eyelashes
Muscular hypotonia of the trunk
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1"
Pontocerebellar atrophy
Impaired distal vibration sensation
Familial Wilms tumor 2
"Arthropathy, Erosive"
"Bleeding Disorder, East Texas Type"
"Parkinson Disease 6, Autosomal Recessive Early-Onset"
Dimethylglycine Dehydrogenase Deficiency
Decreased fumarate hydratase activity
"Spondyloocular Syndrome, Autosomal Recessive"
NONAKA MYOPATHY
Rimmed vacuoles on biopsy
Deposits immunoreactive to beta-amyloid protein
"CITRULLINEMIA, TYPE II, NEONATAL-ONSET"
"MYASTHENIA, FAMILIAL INFANTILE, 1"
Generalized hypotonia due to defect at the neuromuscular junction
Decreased miniature endplate potentials
Birdshot chorioretinopathy
"Dermatitis, Atopic, 2"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 2"
EXUDATIVE VITREORETINOPATHY 3
Anisomastia
"Cataract, Central Saccular, With Sutural Opacities"
OTOSCLEROSIS 2
"Spinal muscular atrophy, Jerash type"
"SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE"
"AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL"
"Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness"
Cardiomyopathy dilated with Woolly hair and keratoderma
LATE-ONSET RETINAL DEGENERATION (disorder)
"INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT"
"Hyperaldosteronism, Familial, Type II"
Broad philtrum
Prominent nasal bridge
Short nose
"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME"
"Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1"
"Charcot-Marie-Tooth disease, Type 2B2"
"Charcot-Marie-Tooth disease, Type 2B1"
"DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)"
"FIBROMATOSIS, GINGIVAL, 2"
"PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)"
"ALZHEIMER DISEASE 6, LATE-ONSET"
"Basal cell carcinoma, multiple"
LEBER CONGENITAL AMAUROSIS 6 (disorder)
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
"DEAFNESS, NONSYNDROMIC, MODIFIER 1 (disorder)"
"DEAFNESS, AUTOSOMAL RECESSIVE 26"
Motor delay
Hypotrichosis simplex
"Cataract, posterior polar, 3"
"Epilepsy, Nocturnal Frontal Lobe, Type 3"
PARAGANGLIOMAS 3
BREAST CANCER 3
"Cardiomyopathy, Dilated, 1J"
Spinocerebellar ataxia 14
Impaired vibration sensation at ankles
NEMALINE MYOPATHY 5
Type 1 muscle fiber predominance
Glabellar hemangioma
Naevus flammeus of the eyelid
"Deafness, Autosomal Recessive 10"
MACROCEPHALY/AUTISM SYNDROME
Postnatal macrocephaly
Biparietal narrowing
OPTIC ATROPHY 4 (disorder)
SPLIT-HAND/FOOT MALFORMATION 4
"POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO"
"Neuropathy, hereditary motor and sensory, Russe type"
Axonal regeneration
TUBEROUS SCLEROSIS 1 (disorder)
Temtamy preaxial brachydactyly syndrome
"Spastic paraplegia 13, autosomal dominant"
Noonan Syndrome 2
Spinocerebellar ataxia 13
Limb dysmetria
Slow progression
Recurrent infection of the gastrointestinal tract
Abnormality of the cranial nerves
SEBASTIAN SYNDROME
"Carney Complex, Type 2"
"SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)"
"DEAFNESS, AUTOSOMAL DOMINANT 23"
Metacarpal osteolysis
Metatarsal osteolysis
Growth Deficiency and Mental Retardation with Facial Dysmorphism
"Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy"
Limb fasciculations
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE"
obsolete Congenital myopia
Hypoplasia of the retina
Uncontrolled eye movements
Short nasal bridge
Diffuse cerebellar atrophy
Metabolic Ketosis
J-shaped sella turcica
Proximal tapering of metacarpals
Dermatan sulfate excretion in urine
Infantile cardiomyopathy
Flaring of rib cage
Grayish enamel
Constricted iliac wings
Epiphyseal deformities of tubular bones
Pointed proximal second through fifth metacarpals
Heparan sulfate excretion in urine
Dense calvaria
Progressive neurologic deterioration
Absent speech
Cerebral dysmyelination
Mucolipidosis III Gamma
Shallow acetabular fossae
Short long bone
Soft tissue swelling of interphalangeal joints
Severe psychomotor retardation
Protuberant abdomen
Progressive alveolar ridge hypertropy
Lower thoracic interpediculate narrowness
Beaking of vertebral bodies T12-L3
Varus deformity of humeral neck
Bullet-shaped phalanges of the hand
Monosomy 7 of Bone Marrow
"Molybdenum Cofactor Deficiency, Complementation Group A"
"Molybdenum Cofactor Deficiency, Complementation Group B"
"Molybdenum Cofactor Deficiency, Complementation Group C"
Agenesis of central incisor
Bilateral postaxial polydactyly
Mitochondrial Complex II Deficiency
Progressive leukoencephalopathy
Acute necrotizing encephalopathy
Mitochondrial myopathy with lactic acidosis
Hepatocellular necrosis
"MICROPHTHALMIA, ISOLATED 1"
B lymphocytopenia
Microcephaly-Micromelia Syndrome
"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1"
Short proximal phalanx of thumb
Methylmalonyl-CoA Epimerase Deficiency
Methylmalonic aciduria cblB type
Neonatal onset
Methylmalonic aciduria cblA type
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
"Methylmalonic Aciduria, mut(0) Type"
"Methylmalonic Aciduria, mut(-) Type"
Methylmalonic aciduria
3-Methylglutaconic Aciduria Type IV
"Methylcobalamin Deficiency, CblG Type"
Metaphyseal cupping of metacarpals
Flat glenoid fossa
"CATARACT, ANTERIOR POLAR"
Broad phalanx
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Progressive leg bowing
Flaring of lower rib cage
Cellular immunodeficiency
Susceptibility to chickenpox
Delayed proximal femoral epiphyseal ossification
"Spondylometaphyseal dysplasia, Sedaghatian type"
Focal lissencephaly
Large posterior fontanelle
Cone-shaped metacarpal epiphyses
Irregular tarsal bones
Pseudoarylsulfatase A Deficiency
Disorganized thinking
Mesomelic short stature
"Dorsolateral bowed, short radii"
Shortening of the tibia
Intrahepatic biliary atresia
Protruding ear
Long curly eyelashes
Forearm undergrowth
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1"
Ter Haar syndrome
Megaepiphyseal dwarfism
Megacystis
Cerebral hypoplasia
Olfactory lobe agenesis
External genital hypoplasia
Hypoplasia of the bladder
Bowing of the long bones
MAST SYNDROME
Inferior vermis hypoplasia
Fixed facial expression
"Maple Syrup Urine Disease, Type IA"
"MAPLE SYRUP URINE DISEASE, TYPE II"
Tortuosity of conjunctival vessels
Thoracolumbar kyphosis
Marles Greenberg Persaud syndrome
"Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive"
"MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)"
Congenital symmetrical palmoplantar keratosis
STARGARDT DISEASE 1 (disorder)
"Hypomagnesemia 5, Renal, with Ocular Involvement"
Acute lymphoblastic leukemia with lymphomatous features
Increased carrying angle
Pulmonary lymphangiectasia
Progressive spastic paraplegia
Contiguous gene syndrome
Lipase deficiency combined
Prominent nipples
Severe failure to thrive
"Hyperglycemia, Postprandial"
Small face
Enlarged metaphyses
Laron syndrome type 2
Lactic Aciduria due to D-Lactic Acid
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle cramps
Exercise-induced muscle stiffness
Exercise-induced muscle fatigue
Keutel syndrome
Costal cartilage calcification
Cartilaginous ossification of nose
Premature fusion of phalangeal epiphyses
Cartilaginous ossification of larynx
HAIM-MUNK SYNDROME
Congenital palmoplantar keratosis
Atrophy of alveolar ridges
"Keratoderma, Palmoplantar, Norrbotten Recessive Type"
Keratoconus posticus circumscriptus
"KENNY-CAFFEY SYNDROME, TYPE 1"
Birth length less than 3rd percentile
Fetus Small for Gestational Age
Calvarial osteosclerosis
Kaufman oculocerebrofacial syndrome
Ovoid vertebral bodies
Absent frontal sinuses
Abnormal cornea morphology
Immotile cilia
Arima syndrome
Aplasia/Hypoplasia of the cerebellar vermis
Brainstem dysplasia
"Nephronophthisis, familial juvenile"
Undetectable electroretinogram
Midline skin dimples over anterior/posterior fontanelles
Hypoplasia of the primary teeth
Aplasia cutis congenita of scalp
Jejunal Atresia with Microcephaly and Ocular Anomalies
Bone marrow hypocellularity
"Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation"
Low posterior hairline
Neuronal intestinal pseudoobstruction
"Indifference to Pain, Congenital, Autosomal Recessive"
Abnormality of T cells
Abnormal immunoglobulin level
Lateral displacement of the femoral head
Reduced natural killer cell count
Immune Deficiency Disease
Absent corpus callosum cataract immunodeficiency
Cutaneous anergy
Self-Healing Collodion Baby
Hepatic glycogen storage
"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1"
Bamforth syndrome
"Hypoproteinemia, Hypercatabolic"
Calcium nephrolithiasis
Skin dimple over apex of long bone angulation
Vertebral clefting
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
Hypocalcemic seizures
Severe intrauterine growth retardation
Patchy osteosclerosis
"Bartter syndrome, antenatal , type 2"
Abnormally large globe
Impaired platelet aggregation
"Glycogen Storage Disease 0, Liver"
"Polyglandular Deficiency Syndrome, Persian-Jewish Type"
"Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant"
Widened posterior fossa
Erlenmeyer flask deformity of the femurs
Broad first metatarsal
"HYPERTRICHOSIS, CONGENITAL GENERALIZED"
Congenital hypertrophy of left ventricle
Microbrachycephaly
Hyperphosphatasia with Mental Retardation
"Hyperopia, High"
Hydroxylysinuria
L-2-HYDROXYGLUTARIC ACIDURIA
Severe demyelination of the white matter
Transverse vaginal septum
HYDROLETHALUS SYNDROME 1
Adrenal gland dysgenesis
Abnormal cortical gyration
Abnormal vagina morphology
Cleft in skull base
Proximal tibial hypoplasia
Hydranencephaly with Renal Aplasia-Dysplasia
"Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type"
"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY"
"Mthfr Deficiency, Thermolabile Type"
Methylenetetrahydrofolate reductase deficiency
Biconcave vertebral bodies
Methioninuria
Mowat-Wilson syndrome
Happy demeanor
Uplifted earlobe
Prominent nasal tip
Low hanging columella
Broad eyebrow
"Bile acid synthesis defect, congenital, 2"
Hepatic venoocclusive disease with immunodeficiency
Thyroid lymphangiectasia
Conical incisor
Pleural lymphangiectasia
Pericardial lymphangiectasia
"HEMOLYTIC UREMIC SYNDROME, TYPICAL"
"ALZHEIMER DISEASE, SUSCEPTIBILITY TO"
"HEMIHYPERPLASIA, ISOLATED"
Deafness enamel hypoplasia nail defects
Neutral hyperaminoaciduria
U-Shaped upper lip vermilion
Microdontia of primary teeth
Thin calvarium
"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II"
"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I"
"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative"
Granulocytopenia with Immunoglobulin Abnormality
Coronal craniosynostosis
"46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related"
Glycoprotein Storage Disease
Increased hepatic glycogen content
"GSD IV, Classic Hepatic"
"GSD IV, Neuromuscular Form, Fatal Perinatal"
"GSD IV, Neuromuscular Form, Congenital"
"GSD IV, Neuromuscular Form, Childhood"
Fetal hydrops (in perinatal or congenital neuromuscular forms)
Doll-like facies
"Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to"
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
Infantile encephalopathy
Dilation of lateral ventricles
Dicarboxylic aciduria
Hypoketotic hypoglycemia
"GLAUCOMA 3, PRIMARY CONGENITAL, A"
Late onset congenital glaucoma
"Bernard-Soulier Syndrome, Type B"
"Bernard-Soulier Syndrome, Type C"
Mild thrombocytopenia
Ghosal Hematodiaphyseal Dysplasia
Short metacarpals with rounded proximal ends
"Gaucher Disease, Type Iiic"
Slowed horizontal saccades
Hypometric horizontal saccades
Bulbar signs
Prominent scalp veins
Decreased beta-galactosidase activity
Bone-marrow foam cells
Progressive psychomotor deterioration
Beaking of vertebral bodies
"Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to"
Late-onset spinocerebellar degeneration
Spatulate ribs
Absent/hypoplastic paranasal sinuses
Cervical platyspondyly
Absent/hypoplastic coccyx
Elevated sweat chloride
Hypoplasia of olfactory tract
Polysplenia
Abnormality of the helix
FRIEDREICH ATAXIA 1
Impaired proprioception
Areflexia of lower limbs
Mitochondrial malic enzyme reduced
Palmoplantar cutis laxa
"Follicle-stimulating hormone deficiency, isolated"
"Fleck Retina, Familial Benign"
"Kininogen Deficiency, Total"
Fuhrmann syndrome
Short bowed radii
Aplasia/Hypoplasia of the fibula
Fibular hypoplasia and complex brachydactyly
Malaligned carpal bone
Deformed tarsal bones
Aplastic/hypoplastic toenail
Irregular dentition
Widely patent coronal suture
Widely patent sagittal suture
Posterior vertebral hypoplasia
Hypoplastic fingernail
Femur bifid with monodactylous ectrodactyly
Estren-Dameshek Variant of Fanconi Anemia
Estren-Dameshek Variant of Fanconi Pancytopenia
"STROKE, ISCHEMIC, SUSCEPTIBILITY TO"
Autosomal recessive facio-digito-genital syndrome
Down-sloping shoulders
Hyperextensible hand joints
"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF"
obsolete Hypopigmented fundi
Hypoplastic philtrum
Clinodactyly of the thumb
3-4 finger syndactyly
Facial Dysmorphism with Multiple Malformations
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1"
"Eunuchoidism, familial hypogonadotropic"
Reduced pancreatic beta cells
Ivory epiphyses
Shortening of all middle phalanges of the fingers
Hypoplasia of the femoral head
Limited elbow flexion
Double-layered patella
"Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)"
Epidermolysis bullosa with pyloric atresia
Palmar hyperhidrosis
Plantar hyperkeratosis
Fragile nails
Encephaloclastic Proliferative Vasculopathy
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
Deep white matter hypodensities
Increased CSF interferon alpha
Capitate-hamate fusion
Cone-shaped epiphyses of phalanges 2 to 5
Recurrent mandibular subluxations
Frontal open bite
Gingival hyperkeratosis
Spontaneous neonatal pneumothorax
Progressive congenital scoliosis
"Ehlers-Danlos syndrome, cardiac valvular form"
"Ectodermal dysplasia, ectrodactyly, and macular dystrophy"
Sparse scalp hair
Abnormality of the philtrum
Progressive hypotrichosis
Anteverted ears
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
Absent sternal ossification
"DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)"
Dyssegmental dysplasia
Anisospondyly
Limitation of joint mobility
Parietal bossing
Absent paranasal sinuses
Abnormal metaphyseal trabeculation
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1"
Episodic hyperhidrosis
Episodic hypertension
Enlargement of the costochondral junction
Iliac crest serration
Wide pubic symphysis
Multicentric ossification of proximal humeral epiphyses
Multicentric ossification of proximal femoral epiphyses
Sparse lateral eyebrow
LACTASE PERSISTENCE
"Rhizomelic chondrodysplasia punctata, type 2"
Stippled calcification proximal humeral epiphyses
"2,4-Dienoyl-CoA Reductase Deficiency"
Dicarboxylicaminoaciduria
"Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant"
Hypertrophic auricular cartilage
Trichohepatoenteric Syndrome
Donnai-Barrow syndrome
Partial or complete agenesis of corpus callosum
Infra-orbital crease
Stroke-like episode
Limited mobility of proximal interphalangeal joint
"RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL"
Flexion contracture of finger
Anterior cortical cataract
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
"Deafness, Sensorineural, Autosomal-Mitochondrial Type"
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Posterior fossa cyst
"Leigh syndrome , French Canadian type"
"Cystinuria, Type A"
"Cystinuria, Type B"
De Toni-Debre-Fanconi Syndrome
Cystic Kidney Disease with Ventriculomegaly
Acth-Independent Macronodular Adrenal Hyperplasia
Renal hypoplasia/aplasia
Extension of hair growth on temples to lateral eyebrow
Morphological abnormality of the middle ear
Short columella
Slender finger
Decreased palmar creases
Brachyturricephaly
Flat forehead
"Low-set, posteriorly rotated ears"
Bony paranasal bossing
Broad alveolar ridges
Facial hyperostosis
Club-shaped distal femur
Patchy sclerosis of finger phalanx
Temtamy syndrome
Malformation of the hepatic ductal plate
Flattened epiphysis
Postnatal onset growth deficiency
Deep palmar crease
CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEA PLANA 2
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Orstavik Lindemann Solberg syndrome
Amaurosis hypertrichosis
Achromatopsia 2
"COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING"
Chorioretinal dystrophy
Narrow palm
Patchy demyelination of subcortical white matter
Decreased nerve conduction velocity
Severe postnatal growth retardation
Retinal pigment epithelial mottling
Slender nose
Ivory epiphyses of the phalanges of the hand
Thymic hormone decreased
Prematurely aged appearance
Reduced subcutaneous adipose tissue
COACH syndrome
Yunis Varon syndrome
Aplastic clavicle
Sloping forehead
Combined Oxidative Phosphorylation Deficiency 4
Pulmonary arteriovenous malformation
Venous varicosities of celiac and mesenteric vessels
Arteriovenous fistulas of celiac and mesenteric vessels
Lip telangiectasia
Palate telangiectasia
Abnormal myelination
Increased cellular sensitivity to UV light
Progeroid facial appearance
"Anemia, Diamond-Blackfan, 3"
Hereditary Angioedema Type III
LEBER CONGENITAL AMAUROSIS 12 (disorder)
"DEAFNESS, AUTOSOMAL RECESSIVE 59"
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
"DEAFNESS, AUTOSOMAL RECESSIVE 66"
Alagille Syndrome 2
"Olivopontocerebellar hypoplasia, fetal-onset"
"Cataract, Pulverulent, Juvenile-Onset"
"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism"
"3-@METHYLGLUTACONIC ACIDURIA, TYPE V"
"Arrhythmogenic Right Ventricular Dysplasia, Familial, 10"
SENIOR-LOKEN SYNDROME 6
JOUBERT SYNDROME 5
Diaphragmatic Hernia 3
Aplasia of the inferior half of the cerebellar vermis
Atrophy of the dentate nucleus
Thoracic scoliosis
Immunodeficiency due to Defect in CD3-Zeta
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2"
MORM syndrome
"DEAFNESS, AUTOSOMAL RECESSIVE 44"
"Deafness, prelingual, profound (affects all frequencies)"
"DEAFNESS, AUTOSOMAL RECESSIVE 49"
"Macular Degeneration, Age-Related, 7"
"MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO"
LEBER CONGENITAL AMAUROSIS 10 (disorder)
"Heart-hand syndrome, Slovenian type"
"CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)"
"CELIAC DISEASE, SUSCEPTIBILITY TO, 4"
"Cataract, Congenital Nuclear, Autosomal Recessive 2"
Proopiomelanocortin Deficiency
"SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT"
Brooke-Spiegler syndrome
Hyperechogenic pancreas
Severe gastroesophageal reflux
Prominent metopic ridge
Deep plantar creases
"Hypobetalipoproteinemia, Familial, 2"
MICROHYDRANENCEPHALY
Spinal rigidity
WOLFRAM SYNDROME 2
Asymmetry of the thorax
Periorbital fullness
Becker Nevus Syndrome
"Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation"
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
BARDET-BIEDL SYNDROME 6
ASTHMA AND NASAL POLYPS
"Retinal Dystrophy, Early Onset Severe"
"STICKLER SYNDROME, TYPE II (disorder)"
Malar flattening
Long fingers
"SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)"
"Microcephaly, Primary Autosomal Recessive, 3"
HUNTINGTON DISEASE-LIKE 3 (disorder)
Caudate atrophy
Generalized hypotonia
Limb-girdle muscle weakness
"Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive"
"ICHTHYOSIS, LAMELLAR, 3"
"CARDIOMYOPATHY, DILATED, 1I"
"CRANIOSYNOSTOSIS, TYPE 2"
"Deafness, Autosomal Dominant 20"
"Tooth Agenesis, Selective, 5"
"EXUDATIVE VITREORETINOPATHY, DIGENIC"
"Bare Lymphocyte Syndrome, Type I"
"Charcot-Marie-Tooth disease, Type 4B2"
"Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma"
"Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma"
Decreased number of peripheral myelinated nerve fibers
LEBER CONGENITAL AMAUROSIS 5
Ectodermal dysplasia/ skin fragility syndrome
INFLAMMATORY BOWEL DISEASE 3
Megakaryocytopenia
"Bile acid synthesis defect, congenital, 4"
"Neuropathy, hereditary motor and sensory, Okinawa type"
SPINOCEREBELLAR ATAXIA 11
"Pyogenic Arthritis, Pyoderma Gangrenosum and Acne"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)"
Leber Congenital Amaurosis 4
ATAXIA-TELANGIECTASIA-LIKE DISORDER
NEPHRONOPHTHISIS 3
Tubular atrophy
"Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency"
Limited extraocular movements
Death in infancy
"BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO"
"COLORECTAL CANCER, SUSCEPTIBILITY TO"
"CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO"
Thickened calvaria
"Epilepsy, Partial, with Variable Foci"
"Spastic paraplegia 11, autosomal recessive"
"FEBRILE CONVULSIONS, FAMILIAL, 4"
"Advanced Sleep-Phase Syndrome, Familial"
Spinocerebellar Ataxia 12
"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE"
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Denervation of the diaphragm
"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)"
Shawl scrotum
Facial capillary hemangioma
OVERLAP CONNECTIVE TISSUE DISEASE
"Rheumatoid Arthritis, Systemic Juvenile"
"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3"
Duplicated collecting system
Abnormal lacrimal duct morphology
Absence of Stensen duct
Sparse pubic hair
Sparse axillary hair
"HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA"
Carney Triad
"Limb-girdle muscular dystrophy, type 2E"
Bicarbonate-wasting renal tubular acidosis
Increased red cell osmotic resistance
"Short Stature, Idiopathic, Autosomal"
"HEMOCHROMATOSIS, TYPE 3"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3"
LEBER CONGENITAL AMAUROSIS 3 (disorder)
"CATARACT, AUTOSOMAL DOMINANT"
Familial encephalopathy with neuroserpin inclusion bodies
Chudley-Mccullough syndrome
"Spastic paraplegia 10, autosomal dominant"
"Facial paresis, hereditary, congenital"
Facial muscle weakness of muscles innervated by CN VII
Poikiloderma with Neutropenia
"NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1"
"Congenital Cataracts, Facial Dysmorphism, And Neuropathy"
Decreased motor nerve conduction velocity
Malar prominence
"Cardiomyopathy, Dilated, 1g"
"Cerebellar Ataxia, Deafness, and Narcolepsy"
"Vohwinkel Syndrome, Variant Form"
CONE-ROD DYSTROPHY 3 (disorder)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
Diffuse swelling of cerebral white matter
Diffuse spongiform leukoencephalopathy
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
"DEAFNESS, AUTOSOMAL DOMINANT 16"
"Autoimmune Lymphoproliferative Syndrome, Type IIA"
Decreased lymphocyte apoptosis
Chronic noninfectious lymphadenopathy
Increased B cell count
"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells"
Increased IgG level
Platelet antibody positive
Antineutrophil antibody positivity
"Beta Thalassemia, Dominant Inclusion Body Type"
Childhood Ataxia with Central Nervous System Hypomyelinization
Decreased circulating progesterone
Primary gonadal insufficiency
Medullary Cystic Kidney Disease Type 2
CYSTIC FIBROSIS MODIFIER 1
CCHS WITH HIRSCHSPRUNG DISEASE
LONG QT SYNDROME 3
Brittle Bone Disorder
Aplasia/Hypoplasia of the nails
"COPPER TOXICOSIS, IDIOPATHIC"
"Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism"
"Chorea, Benign Familial"
Vertebral chordoma
Enlarged joints
Prominent interphalangeal joints
Large tarsal bones
Anterior rib punctate calcifications
Sternal punctate calcifications
Stippled epiphyses
"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1"
Calcific stippling of infantile cartilaginous skeleton
"Chondrodysplasia, blomstrand type"
Laryngeal calcification
Neonatal cholestatic liver disease
Progressive peripheral neuropathy
"GRISCELLI SYNDROME, TYPE 1"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)"
Inability to walk by childhood/adolescence
Klippel Feil syndrome recessive type
Limited neck range of motion
Deep longitudinal plantar crease
Second metatarsal posteriorly placed
Hypoplastic olfactory lobes
Intrahepatic biliary dysgenesis
Prolonged neonatal jaundice
Cerebrofaciothoracic Dysplasia
Dense calcifications in the cerebellar dentate nucleus
Triangular-shaped open mouth
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2"
Cerebellar hypoplasia with endosteal sclerosis
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
PREMATURE CENTROMERE DIVISION
Syndactyly Cenani Lenz type
"Microphthalmia, Isolated, with Cataract 2"
CAMFAK syndrome
Cataract and cardiomyopathy
"Cardiac Valvular Defect, Developmental"
Thoracolumbar kyphoscoliosis
Midfrontal capillary hemangioma
Olivopontocerebellar hypoplasia
Abnormal subcutaneous fat tissue distribution
"Candidiasis, Familial, 2"
Twelfth rib hypoplasia
Abnormality of dental eruption
Hypoplastic 5th lumbar vertebrae
Camptodactyly of 2nd-5th fingers
Calcification of Joints and Arteries
Fused sternal ossification centers
Thick anterior alveolar ridges
Absent pubic hair
Absent axillary hair
Radial bowing
Bowen-Conradi syndrome
Borrone Di Rocco Crovato syndrome
BOMBAY PHENOTYPE
PARA-BOMBAY PHENOTYPE
Weak extraocular muscles
Frontalis muscle weakness
Minimal subcutaneous fat
Severe generalized osteoporosis
Hypoplastic ischia
Thin long bone diaphyses
"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I"
Small anterior fontanelle
Cleft vertebral arch
Bowed humerus
Femoral bowing
Absent knee epiphyses
Large basal ganglia
Hypoplasia of proximal radius
Hypoplasia of proximal fibula
Cone-shaped epiphyses of the phalanges of the hand
Abnormal finger flexion creases
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Episodic hemolytic anemia
3-methylcrotonyl CoA carboxylase 2 deficiency
Acute hyperammonemia
Episodic metabolic acidosis
"Beta-Aminoisobutyric Acid, Urinary Excretion of"
Progressive spasticity
Contractures of the joints of the lower limbs
Adductor longus contractures
"Bare Lymphocyte Syndrome, Type II, Complementation Group A"
"Bare Lymphocyte Syndrome, Type II, Complementation Group B"
"Bare Lymphocyte Syndrome, Type II, Complementation Group C"
"Bare Lymphocyte Syndrome, Type II, Complementation Group D"
"Bare Lymphocyte Syndrome, Type II, Complementation Group E"
Bardet-Biedl syndrome 3
BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 12
ATRICHIA WITH PAPULAR LESIONS
"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA"
Decreased number of large peripheral myelinated nerve fibers
Defective B cell differentiation
"Asthma, Nasal Polyps, And Aspirin Intolerance"
Broad face
Hypoplastic frontal sinuses
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Decreased cervical spine mobility
Periarticular osteoporosis
Enlargement of the proximal femoral epiphysis
Contractures of the large joints
Enlarged metacarpophalangeal joints
Enlarged interphalangeal joints
Kuskokwim disease
Depressed nasal tip
"ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)"
"Arthrogryposis, renal dysfunction, and cholestasis 1"
ARTERIAL TORTUOSITY SYNDROME
Arterial calcification of infancy
"Coronary Sclerosis, Medial, of Infancy"
Progressive spastic quadriplegia
Fused fourth and fifth metacarpals
"Microphthalmia, Syndromic 3"
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Anterior pituitary hypoplasia
Postnatal growth retardation
"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)"
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
Impaired renal concentrating ability
Increased extraneuronal autofluorescent lipopigment
Granular osmiophilic deposits (GROD) in cells
"LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)"
Childhood-onset truncal obesity
Episodic ketoacidosis
Cerebral cortical neurodegeneration
Alopecia universalis congenita
Alopecia-Mental Retardation Syndrome 1
Pigmentation of the sclera
Progressive macrocephaly
Freckles in sun-exposed areas
"Neutropenia, Severe Congenital, Autosomal Dominant 1"
"Hypodysfibrinogenemia, Congenital"
"ADRENOCORTICAL CARCINOMA, HEREDITARY"
"Adrenocortical Carcinoma, Pediatric"
"Adrenal Hypoplasia, Cytomegalic Type"
Precocious puberty in males
"Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency"
"CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING"
Antley-Bixler Syndrome with Disordered Steroidogenesis
Temporal bossing
Cloverleaf skull
Medium chain dicarboxylic aciduria
Severe short-limb dwarfism
Distal femoral bowing
Abnormally shaped carpal bones
Acrofrontofacionasal dysostosis syndrome
Acrofacial dysostosis Rodriguez type
Decreased testosterone in males
Impaired T cell function
Recurrent candida infections
Low alkaline phosphatase
Lateral displacement of patellae
Elejalde Disease
Bifid distal phalanx of the thumb
Duplication of phalanx of hallux
Pulmonary valve defects
Valgus hand deformity
Aplasia/Hypoplasia of metatarsal bones
Absent vertebral body mineralization
Unossified vertebral bodies
Progressive choreoathetosis
Self-mutilation of tongue and lips due to involuntary movements
ABLEPHARON-MACROSTOMIA SYNDROME
Hyperzincemia and Hypercalprotectinemia
Irregular hyperpigmentation
"WOOLLY HAIR, AUTOSOMAL DOMINANT"
Abnormal sternal ossification
Malrotation of small bowel
Cranial asymmetry
Prominent glabella
Pseudoepiphyses of the metacarpals
Gonadal tissue inappropriate for external genitalia or chromosomal sex
Chin with H-shaped crease
"Whispering dysphonia, hereditary"
Bone marrow hypercellularity
Lisch nodules
Axillary freckling
"WAARDENBURG SYNDROME, TYPE IIA"
Hypoplastic iris stroma
Spinal cord hemangioblastoma
Renal hemangioblastoma
Snowflake vitreoretinal degeneration
"Congenital vertical talus, bilateral"
Equinus calcaneus
Calcaneovalgus deformity
Retinal vascular tortuosity
Abnormal internal carotid artery morphology
Abnormality of the sternum
"Vasculopathy, Retinal, With Cerebral Leukodystrophy"
Flattened femoral head
Short proximal phalanx of finger
Uncombable hair
Pili canaliculi
ULNAR HYPOPLASIA
TUBEROUS SCLEROSIS 2 (disorder)
Achromatic retinal patches
Dental enamel pits
Giant cell astrocytoma
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7"
DOWN SYNDROME CRITICAL REGION
Transient Myeloproliferative Disorder of Down Syndrome
"Leukemia, Megakaryoblastic, of Down Syndrome"
Triosephosphate Isomerase Deficiency
Preauricular skin tag
Metopic synostosis
"Trichorhinophalangeal Syndrome, Type III"
Accelerated bone age after puberty
Coxa Magna
Cone-shaped epiphyses of the middle phalanges of the hand
Infantile muscular hypotonia
Swelling of proximal interphalangeal joints
Familial multiple trichodiscomas
Obliteration of the calvarial diploe
"TREMOR, HEREDITARY ESSENTIAL, 1"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6"
GENIOSPASM 1
NOONAN SYNDROME 3
Esophageal atresia with or without tracheoesophageal fistula
"TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9"
"Tibia, Hypoplasia of, with Polydactyly"
Absence of tibia with polydactyly
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
"Thyrotropin-Releasing Hormone Resistance, Generalized"
Abnormality of the middle ear
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
Venous Thromboembolism
THROMBOCYTOPENIA 2 (disorder)
"Thrombasthenia-Thrombocytopenia, Hereditary"
"Glanzmann Thrombasthenia, Autosomal Dominant"
Wide-cupped costochondral junctions
Small foramen magnum
Hypoplastic ilia
Small abnormally formed scapulae
Forebrain Defects
"ARTHROGRYPOSIS, DISTAL, TYPE 10"
Plantar flexion contractures
Fingerpad telangiectases
Immunodeficiency due to Defect in CD3-Epsilon
"SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)"
TARSAL-CARPAL COALITION SYNDROME
Progressive fusion 2nd-5th pip joints
"Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly"
Radially deviated wrists
Short philtrum
Progressive conductive hearing impairment
Stapes ankylosis
Hypoplastic nasal septum
Spinal canal stenosis
Limited pronation/supination of forearm
Fusion of midphalangeal joints
Aplasia/Hypoplasia of the distal phalanges of the hand
Absent distal phalanges
"Syndactyly, type v"
Absent distal interphalangeal creases
Enlarged proximal interphalangeal joints
"Syndactyly, Type IV"
1-5 finger complete cutaneous syndactyly
6 metacarpals
"SYNDACTYLY, TYPE III"
Y-shaped metacarpals
2nd-5th toe middle phalangeal hypoplasia
"Syndactyly, Type I"
"SYMPHALANGISM, PROXIMAL"
Short 5th metacarpal
Small hypothenar eminence
Variable expressivity
Facial hemangioma
Stormorken Syndrome
Storm Syndrome
Pseudohyperkalemia Cardiff
STOMATOCYTOSIS I
Stiff Skin Syndrome
PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY
"Stickler syndrome, type 3"
COLCHICINE RESISTANCE
Cochleosaccular degeneration of the inner ear and progressive cataracts
"Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly"
Abnormal facility in opposing the shoulders
Moderately short stature
Long second metacarpal
Blepharo-cheilo-dontic syndrome
OROFACIAL CLEFT 1
Nonsyndromic cleft lip with or without cleft palate
Lower lip pit
Split-Hand-Foot Malformation With Long Bone Deficiency 1
"Cirrhosis, Familial"
CHROMATE RESISTANCE (disorder)
Butterfly vertebral arch
CHLORPROPAMIDE-ALCOHOL FLUSHING
Mandibular enlargement
Retraction of lower eyelid
Charcot-Marie-Tooth disease and deafness
Cold-induced muscle cramps
"Charcot-Marie-Tooth Disease, Axonal, Type 2a1"
"KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT"
Cervical Vertebral Dysplasia
"EAR WAX, WET/DRY"
Anomalous rib insertion to vertebrae
Calcaneal epiphyseal stippling
Cerebral sarcoma
SPINOCEREBELLAR ATAXIA 29
"Dementia, familial Danish"
SPINOCEREBELLAR ATAXIA 31 (disorder)
"Multiminicore Disease, Moderate, with Hand Involvement"
Hepatic vascular malformations
Retinal vascular malformation
Catatrichy
"CATARACT, MARNER TYPE"
"CATARACT, POSTERIOR POLAR, 1"
"Cataract, Nuclear Diffuse Nonprogressive"
"Cataract, Zonular Pulverulent 1"
Cataract microcornea syndrome
"CATARACT, CRYSTALLINE ACULEIFORM"
PARAGANGLIOMAS 4
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)"
Familial Hypertrophic Cardiomyopathy Type 4
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)"
"Cardiomyopathy, Familial Hypertrophic, 2"
Aplasia/Hypoplasia of the corpus callosum
Underdeveloped supraorbital ridges
Multiple palmar creases
Multiple plantar creases
Subacute progressive viral hepatitis
"Breast Cancer, Familial Male"
Cutaneous syndactyly
CAMPOMELIC DYSPLASIA
Acampomelic Campomelic Dysplasia
Anterior tibial bowing
"Cafe au lait spots, multiple"
"PRENATAL CORTICAL HYPEROSTOSIS, LETHAL (disorder)"
"Heart Block, Nonprogressive"
"Cardiac Conduction Defect, Nonprogressive"
Cochlear malformation
Gustatory lacrimation
Supraauricular pit
Branchial anomaly
Fusion of middle ear ossicles
"BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO"
Short 4th toe
Mesomelic arm shortening
Bilateral single transverse palmar creases
Aplasia of the middle phalanx of the hand
"BRACHYDACTYLY, TYPE E1"
Brachydactyly type C
"BRACHYDACTYLY, TYPE B1"
Decreased finger mobility
Abnormality of the tarsal bones
Brachymesophalangy 2 and 5
Short 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Medially deviated second toe
"BRACHYDACTYLY, TYPE A1 (disorder)"
Aplasia/Hypoplasia of the middle phalanges of the hand
Proportionate shortening of all digits
Terminal symphalangism of hands
Short proximal phalanx of hallux
Brachydactyly with hypertension
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Cole Carpenter syndrome
BLOOD GROUP--WRIGHT ANTIGEN
BLOOD GROUP--WALDNER TYPE
RADIN BLOOD GROUP ANTIGEN
Adult i Blood Group Phenotype
BPES type I
BPES type II
Bpes With Ovarian Failure
Bpes Without Ovarian Failure
Bpes With Duane Retraction Syndrome
Increased circulating gonadotropin level
Hamartomatous polyp of stomach
Short distal phalanx of the thumb
Basal cell nevus
"Ovalocytosis, Malaysian-Melanesian-Filipino Type"
Elliptocytosis 4
Facial-lingual fasciculations
"Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities"
Abnormally prominent line of Schwalbe
SVEINSSON CHORIORETINAL ATROPHY
ATRIAL SEPTAL DEFECT 1
ASD I
"Atrial Septal Defect, Secundum Type"
ASD II
"Atrial Fibrillation, Familial, 4"
Cervical segmentation defect
Tombstone-shaped proximal phalanges
Widened distal phalanges
Thoracic platyspondyly
Aryl Hydrocarbon Hydroxylase Inducibility
Arthrogryposis-like hand anomaly and sensorineural deafness
Oculomelic amyoplasia
Decreased facial expression
Abnormality of retinal pigmentation
Absent phalangeal crease
Limited wrist extension
Internally rotated shoulders
Facial midline hemangioma
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)"
COLTON-NULL PHENOTYPE
"CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO"
Familial hypobetalipoproteinemia
Townes-Brocks-Branchiootorenal-Like Syndrome
Stahl ear
Pseudoepiphyses of second metacarpal
Metatarsal synostosis
Aplasia/Hypoplasia of the 3rd toe
Anterior segment mesenchymal dysgenesis
"Red, cracking, peeling skin at birth"
Patchy alopecia
Sparse body hair
Ankyloblepharon filiforme adnatum and cleft palate
"ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS"
"ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE"
Hereditary Angioedema Type II
"ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)"
AMYOTROPHIC LATERAL SCLEROSIS 1
"Amyotrophic Lateral Sclerosis, Autosomal Recessive"
"Amyotrophic Lateral Sclerosis, Sporadic"
Generalized amyloid deposition
Yellow-brown discoloration of the teeth
"Amelogenesis Imperfecta, Type IV"
ALZHEIMER DISEASE 2
"ALZHEIMER DISEASE, FAMILIAL, 1"
Episodic hemiplegia
Episodic quadriplegia
"ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF"
alpha-Fetoprotein Deficiency
Alopecia congenita keratosis palmoplantaris
Dysalbuminemic Hyperthyroxinemia
Choroid plexus calcification
"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)"
Lacrimal gland hypoplasia
ADULT SYNDROME
"Adenosine Triphosphate, Elevated, Of Erythrocytes"
"SCID Due to ADA Deficiency, Early-Onset"
Partial adenosine deaminase deficiency
Absent specific antibody response
"Acropectorovertebral Dysplasia, F-Form"
Elongated sella turcica
Tall lumbar vertebral bodies
Cervical instability
Crowded carpal bones
PITUITARY ADENOMA PREDISPOSITION (disorder)
Calvarial hyperostosis
Hypoplastic vertebral bodies
Cartilaginous trachea
Saethre-Chotzen Syndrome with Eyelid Anomalies
Absent first metatarsal
Apert-Crouzon Disease
Abnormal morphology of the limbic system
Acrobrachycephaly
Broad distal phalanx of the thumb
Broad distal hallux
Anomalous tracheal cartilage
Juvenile posterior subcapsular lenticular opacities
Retinal hamartoma
Autosomal dominant compelling helio ophthalmic outburst syndrome
Lumbar kyphosis in infancy
Aplasia cutis congenita over posterior parietal area
Aplasia cutis congenita on trunk or limbs
"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE"
Microcephaly with Simplified Gyral Pattern
Stargardt disease 4
"HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3"
Young Simpson syndrome
"Deafness, Autosomal Recessive 16"
Hereditary Myopathy with Early Respiratory Failure
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
ACROMELIC FRONTONASAL DYSOSTOSIS
Cone-Rod Dystrophy 7
Unilateral vestibular Schwannoma
"Deafness, Autosomal Recessive 21"
"DEAFNESS, AUTOSOMAL DOMINANT 17"
Craniosynostosis with Ectopia Lentis
"Xanthinuria, Type II"
"Spastic paraplegia 8, autosomal dominant"
Severe B lymphocytopenia
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2"
"Hemophagocytic lymphohistiocytosis, familial, 4"
Spondyloepimetaphyseal dysplasia with multiple dislocations
Caudal interpedicular narrowing
Narrow femoral neck
Carpal bone hypoplasia
Enlarged Vestibular Aqueduct
LIMB-MAMMARY SYNDROME
Light Fixation Seizure Syndrome
"Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema"
Neuronal intranuclear inclusion disease
Adult-onset citrullinemia type 2
"Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss"
Coloboma of superior eyelid
"Arhinia, choanal atresia, and microphthalmia"
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
"Nonmedullary thyroid carcinoma, with or without cell oxyphilia"
"GLAUCOMA 1, OPEN ANGLE, F (disorder)"
"Hyperthyroidism, Familial Gestational"
"Thyroid Adenoma, Hyperfunctioning"
Thyroid Carcinoma With Thyrotoxicosis
"Peroxisome Biogenesis Disorder, Complementation Group D"
GRACILE SYNDROME (disorder)
Cerebral Cavernous Malformations 3
CEREBRAL CAVERNOUS MALFORMATIONS 2
"PSEUDOHYPOPARATHYROIDISM, TYPE IB"
Low urinary cyclic AMP response to PTH administration
MYOPIA 3 (disorder)
HUNTINGTON DISEASE-LIKE 1
SCHIZOPHRENIA 8 (disorder)
"MECKEL SYNDROME, TYPE 2"
SCHIZOPHRENIA 5
"Peroxisome Biogenesis Disorder, Complementation Group G"
Elevated serum transaminases during infections
CDAGS SYNDROME
"Macular Degeneration, Age-Related, 1"
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
Prolonged miniature endplate currents
Endotoxin Hyporesponsiveness
SCHIZOPHRENIA 6 (disorder)
"DEAFNESS, AUTOSOMAL RECESSIVE 17 (disorder)"
Fibular overgrowth
"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE"
Lower thoracic kyphosis
Thoracolumbar interpediculate narrowness
Acromesomelia
Long hallux
PREMATURE CHROMATID SEPARATION TRAIT
"Peroxisome Biogenesis Disorder, Complementation Group 7"
Muenke Syndrome
Histiocytosis with joint contractures and sensorineural deafness
Retinitis Pigmentosa 25
Limited neck flexion
PSORIASIS 2
"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE"
"Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss"
"Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration"
"CATARACT, POSTERIOR POLAR, 4 (disorder)"
Insulin insensitivity
Iridescent posterior subcapsular cataract
Type 2 muscle fiber atrophy
Frontal balding
RETINITIS PIGMENTOSA 36
"DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)"
"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY"
"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate"
"GLAUCOMA 1, OPEN ANGLE, M (disorder)"
HYPOMYELINATION AND CONGENITAL CATARACT
"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4"
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
"Neuronal Ceroid Lipofuscinosis, Congenital"
"MICROPHTHALMIA, SYNDROMIC 6 (disorder)"
"Microphthalmia, Syndromic 5"
Complement Component 7 Deficiency
"Giant Axonal Neuropathy, Autosomal Dominant"
Thenar muscle atrophy
Intrinsic hand muscle atrophy
"MICROPHTHALMIA, ISOLATED 2"
"Microphthalmia, Isolated, with Coloboma 3"
"Microphthalmia, Cataracts, and Iris Abnormalities"
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
"Polyposis Syndrome, Hereditary Mixed, 2"
"Corneal Dystrophy, Congenital Stromal"
"Deafness, Autosomal Recessive 53"
"Thyroid Hormone Metabolism, Abnormal"
Normal kidneys
Abnormality of the odontoid process
Superior pectus carinatum
Pectus excavatum of inferior sternum
TRICHILEMMAL CYST 1
"DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)"
Frias syndrome
"Epidermolysis bullosa, lethal acantholytic"
HOLOPROSENCEPHALY 5
ALZHEIMER DISEASE 10
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder)"
Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 2
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)"
RETINAL CONE DYSTROPHY 4
"Arrhythmogenic Right Ventricular Dysplasia, Familial, 11"
"Pigmented Nodular Adrenocortical Disease, Primary, 2"
CATSHL syndrome
Increased vertebral height
Broad femoral metaphyses
"Tumoral Calcinosis, Normophosphatemic, Familial"
"BURULI ULCER, SUSCEPTIBILITY TO"
"Night Blindness, Congenital Stationary, Autosomal Dominant 1"
"Night Blindness, Congenital Stationary, Autosomal Dominant 3"
Chromosome 17q21.31 Deletion Syndrome
"Spondyloepimetaphyseal dysplasia, Genevieve type"
Testicular Microlithiasis
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)"
"HEPATITIS B VIRUS, SUSCEPTIBILITY TO"
Retinal Cone Dystrophy 3A
"Hyperinsulinemic hypoglycemia, familial, 7"
Hyperinsulinemic hypoglycemia
Exercise-induced hyperinsulinism
"Cataract, autosomal recessive congenital 2"
"Glutamine deficiency, congenital"
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Northern epilepsy syndrome
"Cerebellar atrophy, progressive"
"Natural Killer Cell Deficiency, Familial Isolated"
"Hyperinsulinemic Hypoglycemia, Familial, 4"
"Hyperinsulinemic Hypoglycemia, Familial, 5"
Fasting hyperinsulinemia
Osteomyelitis leading to amputation due to slow healing fractures
"Migraine, Familial Hemiplegic, 3"
"Visceral Neuropathy, Familial, Autosomal Dominant"
Majeed syndrome
Long philtrum
Thin upper lip vermilion
Short QT Syndrome 3
SHORT QT SYNDROME 2 (disorder)
Short QT Syndrome 1
Hypoplastic iliac wing
Hypoplastic pubic bone
Cone-shaped epiphysis
Broad toe
Cupped ribs
PARIETAL FORAMINA 2
"Symmetrical, oval parietal bone defects"
Molar tooth sign on MRI
"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION"
"TOOTH AGENESIS, SELECTIVE, 2 (disorder)"
Progressive ventriculomegaly
BRANCHIOOTIC SYNDROME 1
Congenital disorder of glycosylation type 1B
"Spondyloepimetaphyseal Dysplasia, Shohat Type"
Bell-shaped thorax
Mild splenomegaly
Delayed epiphyseal ossification
"Muscular Dystrophy, Congenital, Megaconial Type"
"ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS"
Large sternal ossification centers
Shallow orbits
Distal widening of metacarpals
"Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly"
"BARTTER SYNDROME, TYPE 4A"
Global glomerulosclerosis
Fetal polyuria
Megalencephaly cutis marmorata telangiectatica congenita
"MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA"
"Hyperinsulinemic hypoglycemia, familial, 3"
Nonketotic hypoglycemia
Auriculo-condylar syndrome
Cleft at the superior portion of the pinna
Overfolding of the superior helices
Hypoplastic superior helix
Speech articulation difficulties
Abnormality of the temporomandibular joint
"MIGRAINE, FAMILIAL HEMIPLEGIC, 2"
"Migraine, Familial Basilar"
Transient unilateral blurring of vision
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
Ethylmalonic encephalopathy
Ethylmalonic aciduria
"SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES"
Scapulohumeral synostosis
Delayed ossification of pubic rami
"Deafness, Autosomal Dominant 15"
Severe combined immunodeficiency with sensitivity to ionizing radiation
"SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE"
Athabaskan severe combined immunodeficiency
"SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL"
"Amyotrophy, monomelic"
"Amyotrophic Lateral Sclerosis 4, Juvenile"
Abnormal lower motor neuron morphology
Pallor of dorsal columns of the spinal cord
Diffuse axonal swelling
"GLAUCOMA 1, OPEN ANGLE, D (disorder)"
"VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF"
"HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO"
Aplasia/Hypoplasia of the ulna
Proximal placement of thumb
Desmosterolosis
Hypoplastic nasal bridge
Alveolar ridge overgrowth
"HEMOCHROMATOSIS, TYPE 2A"
"HEMOCHROMATOSIS, TYPE 2B"
Gracile bone dysplasia
"Cholestasis, progressive familial intrahepatic 3"
"Plantar Lipomatosis, Unusual Facies, and Developmental Delay"
"Spondylometaphyseal dysplasia, axial"
Joint contracture of the 5th finger
CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
RHYNS syndrome
"Peroxisome Biogenesis Disorder, Complementation Group 1"
"DYSTONIA 7, TORSION (disorder)"
"CERVICAL DYSTONIA, PRIMARY"
"Spondyloepimetaphyseal Dysplasia, Missouri Type"
"Flared, irregular rib ends"
Flared iliac wings
Ulnar bowing
AMYOTROPHIC LATERAL SCLEROSIS 5
Congenital sensorineural hearing loss
ALZHEIMER DISEASE 5
CONE DYSTROPHY 3 (disorder)
"Deafness, Autosomal Recessive 18"
"HEMANGIOMA, CAPILLARY INFANTILE"
NEPHRONOPHTHISIS 2
Renal cortical microcysts
Hyperkalemic metabolic acidosis
"Usher Syndrome, Type IF"
Long-tract signs
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2"
Bilateral ptosis
Restrictive external ophthalmoplegia
"Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)"
"Ectodermal Dysplasia, Pure Hair-Nail Type"
"Hypomagnesemia 1, Intestinal"
Short hallux
"Muscular Dystrophy, Limb-Girdle, Type 2G"
Proximal muscle weakness in lower limbs
Proximal muscle weakness in upper limbs
Proximal upper limb amyotrophy
Increased connective tissue
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas
Honeycomb palmoplantar keratoderma
"EPISODIC ATAXIA, TYPE 5"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 10"
Severe hydrops fetalis
"Deafness, Congenital Heart Defects, and Posterior Embryotoxon"
OROFACIAL CLEFT 10
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
"MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5"
"Cataract, Zonular Pulverulent 3"
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
HIGH BONE MASS
Left-Right Axis Malformations
"DEAFNESS, AUTOSOMAL RECESSIVE 15"
"Deafness, Autosomal Dominant 13"
"Autoimmune Lymphoproliferative Syndrome, Type IA"
"Autoimmune Lymphoproliferative Syndrome, Type IB"
Abnormality of the cerebellum
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres
Wide anterior fontanel
Foot dorsiflexor weakness
"BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1"
Phosphoglycerate Dehydrogenase Deficiency
EXUDATIVE VITREORETINOPATHY 4 (disorder)
Horizontal pendular nystagmus
Penttinen-Aula syndrome
Atresia of the external auditory canal
Downturned corners of mouth
Dysplastic pulmonary valve
Dysplastic aortic valve
Full cheeks
Mesomelic/rhizomelic limb shortening
Broad foot
Hyperpigmented streaks
Sparse anterior scalp hair
"Peroxisome Biogenesis Disorder, Complementation Group H"
"CEROID LIPOFUSCINOSIS, NEURONAL, 6"
Motor deterioration
Retinal cone dystrophy 2
"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1"
"Peroxisome Biogenesis Disorder, Complementation Group 3"
"Peroxisome Biogenesis Disorder, Complementation Group 11"
"Peroxisome Biogenesis Disorder, Complementation Group R"
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Proteus-Like Syndrome (disorder)
RETINITIS PIGMENTOSA 19
Quebec platelet disorder
Yemenite deaf-blind hypopigmentation syndrome
"T-cell immunodeficiency, congenital alopecia and nail dystrophy"
NOVELTY SEEKING PERSONALITY TRAIT
"OBESITY, SUSCEPTIBILITY TO"
Prominent nasolabial fold
"Bartter syndrome, antenatal type 1"
Renal juxtaglomerular cell hypertrophy/hyperplasia
Hyperprostaglandinuria
Low-to-normal blood pressure
Photosensitive Trichothiodystrophy
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Discolored lateral incisors
"GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC"
PARAGANGLIOMAS 2 (disorder)
Glomus tympanicum paraganglioma
"Neural tube defect, folate-sensitive"
"Spina Bifida, Folate-Sensitive"
"IRIDOGONIODYSGENESIS, TYPE 1 (disorder)"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C"
Basal lamina onion bulb formation
Steinfeld Syndrome
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
Congenital stapes ankylosis
Biconvex vertebral bodies
"Spondylometaphyseal dysplasia, Algerian type"
Short sacroiliac notch
"Irregular, rachitic-like metaphyses"
Severe carpal ossification delay
Delayed pubic bone ossification
Rhizomelia
Pear-shaped vertebrae
Lateral femoral bowing
Spinocerebellar tract degeneration
Impaired horizontal smooth pursuit
Abnormal nerve conduction velocity
"Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant"
"Spinal Muscular Atrophy, Facioscapulohumeral Type"
"Neuronopathy, Distal Hereditary Motor, Type I"
Spheroid body myopathy
Unilateral narrow palpebral fissure
Unilateral ptosis
ELLIPTOCYTOSIS 3
"Spastic paraplegia 4, autosomal dominant"
Structural brain abnormalities
Reduced tendon reflexes
Aortic root dilation
"Sella Turcica, Bridged"
"Sclerocornea, Autosomal Dominant"
Social and occupational deterioration
Ulnar-mammary syndrome
Hypoplastic/absent/deformed radius
Axillary apocrine gland hypoplasia
"Scapuloperoneal Syndrome, Neurogenic, Kaeser Type"
Restricted neck movement due to contractures
Increased risk of sudden cardiac death
SCALP-EAR-NIPPLE SYNDROME
Enlarged lacrimal glands
Systemic granulomatous disease
"Lacrimal Puncta, Absence of"
Limited elbow extension
Craniofacial disproportion
Broad hallux
Plantar crease between first and second toes
Upper limb postural tremor
Robinow Sorauf syndrome
RING DERMOID OF CORNEA
"Rhabdomyosarcoma, Embryonal, 2"
Retinal calcification
Retinitis Pigmentosa 10
RETINITIS PIGMENTOSA 9
RETINAL CONE DYSTROPHY 1
"RETINAL ARTERIES, TORTUOSITY OF"
Reticular Dystrophy Of Retinal Pigment Epithelium
"SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE"
RADIAL-RENAL SYNDROME
"Pyloric Stenosis, Infantile Hypertrophic 1"
Elevated right atrial pressure
Increased pulmonary vascular resistance
Pulmonary artery vasoconstriction
"PTOSIS, HEREDITARY CONGENITAL 1 (disorder)"
"Pterygium, Antecubital"
"Multiple Pterygium Syndrome, Autosomal Dominant"
Pterygium Of Conjunctiva And Cornea
Multiple pterygia
PSORIASIS SUSCEPTIBILITY 1
"Pseudoxanthoma Elasticum, Incomplete"
"Pseudoxanthoma Elasticum, Heterozygous"
Peau d'orange retinal changes
"Apnea, Postanesthetic"
"Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type"
Childhood onset short-limb short stature
"Fragmented, irregular epiphyses"
"CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT"
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
Hyperprothrombinemia
Dermoid choristoma of eye proper
Hypertrophy of skin of soles
Warfarin-induced skin necrosis
Premature coronary artery atherosclerosis
"CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1"
Sacral Agenesis Syndrome
Anterior sacral meningocele
"Preaxial deficiency, postaxial polydactyly and hypospadias"
Poor fine motor coordination
Failure to thrive in infancy
LONG QT SYNDROME 5
Posterior column ataxia
"Porphyria Cutanea Tarda, Type I"
"Porphyria, Acute Intermittent, Nonerythroid Variant"
Acute episodes of neuropathic symptoms
"POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1"
"KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II"
"PORENCEPHALY, FAMILIAL"
"Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal"
Polyposis Of Gastric Fundus Without Polyposis Coli
Precocious puberty with Sertoli cell tumor
Adenomatous colonic polyposis
Small intestine carcinoid
Juvenile Polyposis Coli
Craniofacial hyperostosis
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC"
"Polydactyly, preaxial 4"
"Crossed Polydactyly, Type I"
"POLYDACTYLY, PREAXIAL II (disorder)"
"POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA"
Orofaciodigital syndrome 5
"POSTAXIAL POLYDACTYLY, TYPE B"
Medullary cystic kidney disease 1
Absence of pectoralis minor muscle
Hypoplasia of deltoid muscle
Telangiectases in sun-exposed and nonexposed skin
"PNEUMOTHORAX, PRIMARY SPONTANEOUS"
Neonatal alloimmune thrombocytopenia (NAIT)
"Platelet Aggregation, Spontaneous"
Pigmented Paravenous Chorioretinal Atrophy
6-Phosphogluconolactonase Deficiency
Elevated urinary epinephrine
Elevated calcitonin
THIOUREA TASTING
"HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO"
"Normokalemic Periodic Paralysis, Potassium-Sensitive"
Wegener-Like Granulomatosis
Crusting erythematous dermatitis
"Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant"
Diffuse leukoencephalopathy
Autonomic erectile dysfunction
Decreased sweating due to autonomic dysfunction
Orthostatic hypotension due to autonomic dysfunction
Marked delay in bone age
Irregular sclerotic endplates
Ovoid thoracolumbar vertebrae
Patterned dystrophy of retinal pigment epithelium
CHAR SYNDROME
Highly arched eyebrow
Distal/middle symphalangism of 5th finger
Patella aplasia-hypoplasia
Patellar aplasia
"Patella aplasia, coxa vara, tarsal synostosis"
Perry Syndrome
"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)"
Atypical Parkinson Disease
Parietal Foramina With Cleidocranial Dysplasia
PARIETAL FORAMINA
PARIETAL FORAMINA 1
Parastremmatic dwarfism
Paramyotonia Congenita Without Cold Paralysis
Handgrip myotonia
Paragangliomas with Sensorineural Hearing Loss
"Pancreatitis, Calcific"
Nasopalpebral lipoma coloboma syndrome
"NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE"
"PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE"
PHOTOPAROXYSMAL RESPONSE 1
"THANATOPHORIC DYSPLASIA, TYPE I (disorder)"
"GRISCELLI SYNDROME, TYPE 2"
DYSTONIA 12
Paroxysmal kinesigenic choreoathetosis
"B-CELL MALIGNANCY, LOW-GRADE"
"EAR, PATELLA, SHORT STATURE SYNDROME"
"Hypoadrenocorticism, familial"
Diabetic keratopathy
Shone complex
Behavioural and psychiatric symptoms of dementia
Periventricular Nodular Heterotopia
Anal sphincter hypertonia
Vertebral artery hypoplasia
Numb chin syndrome
Diabetic encephalopathy
Neutrophilic panniculitis
Bronchial wall thickening
Pulmonary arterial hypertension associated with portal hypertension
Uncontrolled hypertension
Irritable bowel syndrome characterized by constipation
Chemo brain
Right ventricular overload
End stage cardiac failure
Follicular B-cell non-Hodgkin's lymphoma
Polyglobulia
Multiple myeloma progression
Adenotonsillitis
Acute HIV syndrome
Severe cutaneous adverse reactions (SMQ)
"Weill-Marchesani Syndrome, Autosomal Recessive"
"Weill-Marchesani Syndrome, Autosomal Dominant"
"ASTHMA, SUSCEPTIBILITY TO (finding)"
Paroxysmal nonkinesigenic dyskinesia
"HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS"
"EHLERS-DANLOS SYNDROME, PROGEROID FORM"
Limb-girdle muscular dystrophy type 2A
Hypotrichosis of the scalp
"CEROID LIPOFUSCINOSIS, NEURONAL, 2"
Copper-Overload Cirrhosis
Endemic Tyrolean Infantile Cirrhosis
Polyasplenia
"VAH, AUTOSOMAL RECESSIVE"
"Heterotaxy, Visceroatrial, Autosomal Recessive"
Ataxia-Telangiectasia Variant
"EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2"
Dysgnathia complex
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL"
Frontonasal dysplasia
"ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT"
adult nasal type extranodal NK/T-cell lymphoma
childhood nasal type extranodal NK/T-cell lymphoma
Hereditary bundle branch system defect
Agyria
Acute Myeloid Leukemia (AML-M2)
Blindness both eyes NOS (disorder)
Biliary papillomatosis
Primary malignant neoplasm of endometrium
Hypertyrosinemia
Aberrant Crypt Foci
Primary Cutaneous Mucinous Carcinoma
Adult Type Granulosa Cell Tumor
Adverse Event by CTCAE Category
Alcohol Toxicity
Amegakaryocytosis
Benign Teratoma
Hyperocclusion
Inappropriate sinus tachycardia
Interstitial Disease
Inverted Squamous Cell Papilloma
Lipase Hypersecretion Syndrome
Malignant Vipoma
Nevoid Melanoma
Ossifying Renal Tumor of Infancy
Ovarian Thecoma
Rat Cholangiofibrosis
Salivary Gland Low Grade Cribriform Cystadenocarcinoma
Secondary caries
Serum Alanine Aminotransferase Measurement
Severe Aplastic Anemia
Undifferentiated Carcinoma with Osteoclast-Like Giant Cells
Uterine Corpus Cancer
"Ventricular Arrhythmia, CTCAE 3.0"
Intraocular Medulloepithelioma
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
Carcinoma Metastatic to the Skin
Microdeletion syndromes
Intravenous bisphosphonates
Deaf-Blind Disorders
Kaposi's sarcoma-associated herpesvirus infection
Extranodal marginal zone B-cell lymphoma
Glucocorticoid deficiency
Mineralocorticoid deficiency
Idiopathic normal pressure hydrocephalus (INPH)
Chronic total occlusion of coronary artery
Deaf-Blind Syndromes
"Leukemia, Natural Killer Cell Large Granular Lymphocytic"
T-Cell Large Granular Lymphocyte Leukemia
Malformations of Cortical Development
Classical Lissencephalies and Subcortical Band Heterotopias
Cobblestone Complex
"Lymphoma, Extranodal NK-T-Cell"
Trichothiodystrophy Syndromes
Osteophyte
Paris-Trousseau Thrombocytopenia
Wolf-Hirschhorn Syndrome
Alagille Syndrome 1
"Lymphoma, Follicular, Grade 1"
"Lymphoma, Follicular, Grade 3"
"Lymphoma, Follicular, Grade 2"
Microlissencephaly
Pulmonary Stenosis
Familial Thrombotic Thrombocytopenic Purpura
"Cavernous Angioma, Central Nervous System"
Cerebral Venous Angioma
Coronary Artery Disease
"Cerebral Amyloid Angiopathy, Genetic"
Cranial Arteritis
Temporal Arteritis
"Double Outlet Right Ventricle, Noncommitted VSD"
"Double Outlet Right Ventricle, Subaortic VSD"
"Double Outlet Right Ventricle, Subpulmonary VSD"
Taussig-Bing Anomaly
Paroxysmal nocturnal dyspnea
PTEN Hamartoma Tumor Syndrome
Myocardial Failure
Cardiac Carcinoma
Ventricular Free Wall Rupture
Angioma
"Angioma, Cavernous"
Obscure African cardiomyopathy
Dihydropyrimidine Dehydrogenase Deficiency
Mevalonic Aciduria
Plasma Cell Neoplasm
Parvovirus B19 (disease)
Acute lyme disease
Alcohol consumption during pregnancy
Drug-induced pneumonitis
Mild persistent asthma
Moderate persistent asthma
Severe persistent asthma
Chronic hypercapnic respiratory failure
Malignant lymphoma in remission
Latent autoimmune diabetes mellitus in adult
Lymphocytic myocarditis
Nongonococcal cervicitis
Epidermal growth factor receptor negative non-small cell lung cancer
HER2-positive carcinoma of breast
Vasculitic neuropathy
Hypergonadotropic amenorrhea
Human anaplasmosis
Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia
Hereditary angioedema with normal C1 esterase inhibitor activity
Left ventricular noncompaction
Aromatase deficiency
Placental aromatase deficiency
Myxoma of heart
Hemidystonia
Dysglycemia
Transformed migraine
Spina bifida aperta of cervical spine
Epidermal growth factor receptor positive non-small cell lung cancer
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma
Heart Decompensation
Congenital vascular anomaly
"Gaucher Disease, Type 1"
TRICHOMONAS VAGINALIS (finding)
"Retinopathy, CTCAE"
"Agitation, CTCAE 3.0"
"Bone Pain, CTCAE 3.0"
"Dry Skin, CTCAE"
"Myelodysplasia, CTCAE"
"Encephalopathy, CTCAE 3.0"
"Hepatic Necrosis, CTCAE 3.0"
"Left Ventricular Systolic Dysfunction, CTCAE 3.0"
"Malabsorption, CTCAE"
"Memory Impairment, CTCAE 3.0"
"Sinus Bradycardia, CTCAE"
"Nystagmus, CTCAE 3.0"
"Prolonged QTc Interval, CTCAE"
"Aspiration, CTCAE"
"Torsade de Pointes, CTCAE"
"Vaginal Dryness, CTCAE 3.0"
"Viral Hepatitis, CTCAE 3"
"Wolff-Parkinson-White Syndrome, CTCAE"
Spinocerebellar Ataxia 10
Oculorespiratory syndrome
Dopamine dysregulation syndrome
Failed Back Surgery Syndrome
Glycogenic acanthosis
Peripheral nerve lesion
Mucosal pigmentation
Hyperlipasaemia
Mitochondrial enzyme deficiency
Lupus enteritis
Varioliform gastritis
Erosive gastroduodenitis
Infantile free sialic acid storage disease
Diabetic peripheral neuropathic pain
Mechanical phlebitis
Oligoanuria
Punding
Atherothrombosis
Laryngeal dystonia
Testosterone deficiency
Severe speech delay
"Mental Retardation, X-Linked, Syndromic 13"
"Mental Retardation, X-Linked 79"
"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS"
"Xeroderma Pigmentosum, Type G-Cockayne Syndrome"
Defective DNA repair after ultraviolet radiation damage
Numerous pigmented freckles
Hypoplastic lacrimal duct
Progressive calcification of costochondral cartilage
Abnormal calcification of the carpal bones
"Surfactant Metabolism Dysfunction, Pulmonary, 1"
"Osteopetrosis, Autosomal Recessive 5"
Limited elbow flexion/extension
Limited knee flexion/extension
Hypoplastic distal humeri
Anterolateral radial head dislocation
Club-shaped proximal femur
Tubular basement membrane disintegration
Renal corticomedullary cysts
Intimal thickening in the coronary arteries
"LEPROSY, SUSCEPTIBILITY TO, 3"
"Hyper-Immunoglobulin E Syndrome, Autosomal Recessive"
"Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate"
Hypoplasia of the fallopian tube
Increased muscle glycogen content
Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIC
"Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement"
"MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES"
Axonal degeneration/regeneration
"Plasminogen Deficiency, Type I"
Prominent antitragus
Slender ulna
Broad fingertip
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)"
"Primary Lateral Sclerosis, Adult, 1"
"Epilepsy, Familial Mesial Temporal Lobe"
Pigmented micronodular adrenocortical disease
Paradoxical increased cortisol secretion on dexamethasone suppression test
Decreased renal tubular phosphate excretion
Conjunctival whitish salt-like deposits
Increased renal tubular phosphate reabsorption
Abnormal sacral segmentation
Rudimentary to absent tibiae
Cakut
Subependymal nodules
Cortical tubers
Rib segmentation abnormalities
Shoulder muscle hypoplasia
"CARDIOMYOPATHY, DILATED, 1X"
Lissencephaly 3
"Cataract, Autosomal Dominant, Multiple Types 1"
"RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)"
"Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M"
"MECKEL SYNDROME, TYPE 5"
JOUBERT SYNDROME 7
"Glycogen Storage Disease 0, Muscle"
LEOPARD SYNDROME 2
Noonan Syndrome 5
Premature Ovarian Failure 5
"Cataract, Congenital Nuclear, Autosomal Recessive 3"
Cavitary Optic Disc Anomalies
Hyperchloremic metabolic acidosis
"Arrhythmogenic Right Ventricular Dysplasia, Familial, 12"
Pontocerebellar Hypoplasia Type 6
Tyrosine Kinase 2 Deficiency
NEPHRONOPHTHISIS 7
"Osteopetrosis, Autosomal Recessive 6"
"Osteopetrosis, Autosomal Recessive 4"
"Corticosteroid-Binding Globulin, Elevated"
GALLBLADDER DISEASE 4
Renal cortical cysts
EEG with burst suppression
Hypoplastic pubic rami
Mesomelic leg shortening
Aplasia/Hypoplasia of the tibia
Depletion of components of the alternative complement pathway
Decreased serum complement factor H
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11
Mitten deformity
Tapered distal phalanges of finger
Widely spaced toes
Hypoplastic distal radial epiphyses
Expanded phalanges with widened medullary cavities
Expanded metacarpals with widened medullary cavities
Expanded metatarsals with widened medullary cavities
Aortic arch calcification
Thoracic aorta calcification
"PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED"
"Pulmonary Hypertension, Primary, Fenfluramine-Associated"
Middle age onset
Impaired renal uric acid clearance
Tubulointerstitial fibrosis
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9
Short 2nd metacarpal
Prominent frontal sinuses
Prominent U wave
Bidirectional ventricular ectopy
"PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO"
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Demyelinating motor neuropathy
Aberrant melanosome maturation
Rhizomelic arm shortening
Thyroid follicular hyperplasia
"Mental Retardation, Autosomal Dominant 1"
Prolonged bleeding after dental extraction
"DEAFNESS, AUTOSOMAL RECESSIVE 63"
"NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME"
"Cardiomyopathy, Dilated, 1w"
"Cataract, Cortical, Juvenile-Onset"
"Ataxia, Spastic, 3, Autosomal Recessive"
"KALA-AZAR, SUSCEPTIBILITY TO, 2"
"Macular Degeneration, Age-Related, 9"
"BRACHYDACTYLY, TYPE B2 (disorder)"
MUNGAN SYNDROME
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)"
Atrial Septal Defect 4
Forehead hyperpigmentation
Posterior wedging of vertebral bodies
High iliac wings
Repetitive compulsive behavior
Impaired pursuit initiation and maintenance
Premature loss of permanent teeth
"Persistent Hyperplastic Primary Vitreous, Autosomal Recessive"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)"
"ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)"
"Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation"
"Dystonia, Focal, Task-Specific"
Isobutyryl-CoA dehydrogenase deficiency
"FEBRILE CONVULSIONS, FAMILIAL, 8"
"COPD, Severe Early-Onset"
Beta-cell dysfunction
Limb joint contracture
"Mental Retardation, Fra12a Type"
Generalized hyperkeratosis
"Creutzfeldt-Jakob Disease, Heidenhain Variant"
Asphyxiating Thoracic Dystrophy 2
"SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J"
"Congenital Disorder Of Glycosylation, Type IIH"
"Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility"
"MALARIA, SUSCEPTIBILITY TO (finding)"
"PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO"
"Bpes, Type I, Autosomal Recessive"
"ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT"
AROMATASE EXCESS SYNDROME
Aplasia cutis congenita over the scalp vertex
"Tooth Agenesis, Selective, With Orofacial Cleft"
Hypodontia Oligodontia with Orofacial Cleft
"CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED"
Alzheimer Disease 14
"Epilepsy, Childhood Absence, Susceptibility To, 4"
"MECKEL SYNDROME, TYPE 4"
RETINITIS PIGMENTOSA 37 (disorder)
"Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4"
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
"Deafness, Sensorineural, And Male Infertility"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12"
"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy"
Inflammatory Bowel Disease 10
Alzheimer Disease 12
"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5"
"Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen"
"Microphthalmia, Isolated 3"
Episodic Kinesigenic Dyskinesia 2
"DEAFNESS, AUTOSOMAL RECESSIVE, 24"
"Prostate Cancer, Hereditary, 9"
Phosphoserine Aminotransferase Deficiency
Decreased serum complement factor I
Recurrent meningococcal disease
"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress"
Choreoathetosis And Congenital Hypothyroidism
Hearing loss begins with loss of high frequencies
Audiogram shows sloping configuration
"Deafness, profound, by 6th decade"
"Tooth Agenesis, Selective, 3"
"Progressive Familial Heart Block, Type Ib"
Selective tooth agenesis
"Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation"
"Congenital Disorder Of Glycosylation, Type IIF"
"Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities"
XFE Progeroid Syndrome
PITT-HOPKINS SYNDROME
"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)"
"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7"
"Surfactant Metabolism Dysfunction, Pulmonary, 3"
"Osteogenesis imperfecta, type VIII"
Externally rotated/abducted legs
Type 1 collagen overmodification
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)"
"PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED"
Branchiootorenal Syndrome 2
Vesicoureteral Reflux 2
Crumpled long bones
Hypoplastic pulmonary veins
"CILIARY DYSKINESIA, PRIMARY, 6"
"MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO"
Abnormal pupillary light reflex
Hypoplastic spleen
Hypoplastic left atrium
Agenesis of pulmonary vessels
"Multiple Endocrine Neoplasia, Type IV"
"Tooth Agenesis, Selective, X-Linked, 1"
Abnormally folded helix
Xeroderma Pigmentosum B-Cockayne Syndrome
Hypoplastic sacrum
"Fabry Disease, Cardiac Variant"
"Mental Retardation, X-Linked, Syndromic 14"
Phosphoribosylpyrophosphate Synthetase Superactivity
Leukoencephalopathy With Metaphyseal Chondrodysplasia
"MENTAL RETARDATION, X-LINKED 93 (disorder)"
Phosphoglycerate Kinase 1 Deficiency
"Atypical Mycobacteriosis, Familial, X-Linked 2"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)"
Abnormal middle ear reflexes
MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 6
Sodium deficiency (disorder)
Potassium depletion
Scleritis and episcleritis (disorder)
Congenital cardiovascular disorder
Diarrhea due to drug
Hypertensive left ventricular hypertrophy
Low grade glioma
Hypothyroidism in pregnancy
Chlamydia trachomatis infection of genital structure
Nonneurogenic neurogenic bladder dysfunction
Autosomal aneuploidy
Osteomyelitis due to Staphylococcus aureus
Segmental dystonia
Citrin deficiency
Photoreceptor degeneration
Subclinical hyperthyroidism
Malassezia folliculitis
Inflammatory acne
Chronic respiratory insufficiency
T wave alternans
Autoimmune sensorineural hearing loss
phonological developmental disorder
Vascular insufficiency of intestine
Bowel dysfunction
Regurgitation
Cicatrix
"Leukemia, B-Cell"
aberrant right subclavian artery
Liver Carcinosarcoma
Glassy cell carcinoma of the cervix
Oppositional Behavior
orthopedic disorders
sparse facial hair
Ovarian Squamous Cell Carcinoma
"Stickler syndrome, type 1"
Group B Streptococcal Infection
Reduced exercise tolerance
Polar cataract
Diffuse large B-cell lymphoma of central nervous system
Haemophilus influenzae Type b Infection
Cardiac Angiosarcoma
Pain in bilateral legs
Palate fistula
Pancreatic Vipoma
Yellow papule
Inferior lens subluxation
Subretinal pigment epithelium hemorrhage
Cervical Glandular Intraepithelial Neoplasia
Hyperkeratotic papule
Mixed hyperlipidemia (disorder)
(Idiopathic) normal pressure hydrocephalus
Indolent multiple myeloma
Pectus excavatum
Absent cupid's bow
Thin lower lip vermilion
"Adrenal hyperplasia, bilateral"
Sindbis virus infection
Influenza A
acute myelomonoblastic leukemia
Mesial temporal sclerosis
Progressive ophthalmoplegia
Benzodiazepine abuse
Left Main Coronary Artery Stenosis
Round atelectasis
chronic lyme disease
Right ventricular cardiomyopathy
Left atrial appendage thrombosis
Retroperitoneal liposarcoma
viral hepatitis E infection
"Depressive Disorder, Treatment-Resistant"
Esophageal Adenosquamous Carcinoma
Liver Epithelioid Hemangioendothelioma
chronic gingivostomatitis
Chronic postoperative pain
Influenza A (H5N1)
Influenza due to Influenza A virus subtype H1N1
Influenza A (H3N2)
"Charcot-Marie-Tooth disease, Type 2A"
"Charcot-Marie-Tooth disease, Type 2C"
Rectus femoris muscle atrophy
Adenosarcoma of the uterus
Autoimmune Primary Adrenal Insufficiency
Knee arthropathy
continuous electrocardiogram - paroxysmal supraventricular tachycardia
continuous electrocardiogram sinus bradycardia (finding)
Contractures of the interphalangeal joint of the thumb
Postaxial foot polydactyly
Postmenopausal endometrium
Preaxial foot polydactyly
Idiopathic Precocious Puberty
preterm contractions
Agonadism
Acute colitis
Severe recurrent major depression
"Exophthalmos, bilateral"
Loose stool
menstrual symptoms
Abnormal blistering of the skin
Urothelial Carcinoma
Bilateral vocal cord paralysis
Recurrent streptococcus pneumoniae infections
Recurrent bronchopulmonary infections
recurrent muscle twitches (symptom)
Retinal arteriolar constriction
Retroperitoneal Leiomyosarcoma
Undifferentiated/Unclassified Sarcoma
VABP
Scrotal hypospadias
2-methylbutyrylglycinuria
Night Eating Syndrome
Tapered sperm head
Anti-cyclic citrullinated peptide antibody
medullary carcinoma with lymphoid stroma of breast
Small cell carcinoma of ovary
Meningeal Lymphoma
Non-Hodgkin's lymphoma of central nervous system
Acute cerebral ischemia
Acute postoperative pain
Electrocardiogram atrioventricular block complete heart block
electrocardiogram - left anterior hemiblock
electrocardiogram left posterior hemiblock (finding)
Cherry red spot of the macula
malignant neoplasm of breast stage I
malignant neoplasm of breast staging
Stage IIA Colon Cancer AJCC v7
Stage IIIB Colon Cancer AJCC v7
Stage IIIC Colon Cancer AJCC v7
malignant neoplasm of large intestine stage IV
Generalized muscle wasting
Daytime somnolence
Motor disturbances
Hyperplasia of the maxilla
Ankle weakness
Triceps weakness
Long segment Barrett's esophagus
"Brucellosis, Pulmonary"
Moderate global developmental delay
cephalohematoma
exudative macular degeneration
"Hemoglobin, CTCAE"
eyelids (symptom)
Liver carcinoma
von Willebrand's factor (lab test)
Vascular Endothelial Growth Factor Measurement
"Endometrial stromal sarcoma, high grade"
Sinus of Valsalva aneurysm
"Hodgkin lymphoma, nodular lymphocyte predominance"
"DEAFNESS, AUTOSOMAL RECESSIVE 74"
thyroid function
Infection of bone
Exacerbation of idiopathic pulmonary fibrosis
Lower airway obstruction
Splenic varices
Non-erosive reflux disease
Subcutaneous infection
Phantosmia
Compulsive sexual behaviour
Oromandibular dystonia
Lingual dystonia
Interstitial granulomatous dermatitis
Aortic intramural haematoma
Coronaropathy
Mucosal atrophy
Bladder hyperplasia
Tumour thrombosis
Thyroid fibrosis
HBV coinfection
Metastatic ocular melanoma
Aortic dissection rupture
Calcineurin inhibitor induced pain syndrome
Recurrent cerebral infarction
Chronic enterocolitis
Diarrhea rotavirus
Cardio-Renal Syndrome
Chronic myeloid leukaemia transformation
Hypertransaminasaemia
Intra-Abdominal Hypertension
Arteritic anterior ischemic optic neuropathy
Hyper LDL cholesterolaemia
Tumour compression
Cystic fibrosis related diabetes
Plexiform leiomyoma
Sickle cell-thalassemia disease
Ranula (disorder)
acute sore throat
Chronic secretory otitis media
Homocysteine measurement
Myeloblastic leukemia
Benign Mastocytoma
Large head (disorder)
Intestinal necrosis
basal cell adenocarcinoma of salivary gland
paraoxonase activity
Skeletal muscle hypertrophy
response to exercise
ritualistic behavior (symptom)
Trichilemmal cyst
Bulimia Nervosa
Chronic idiopathic neutropenia
Neonatal Hypotonia
Reproductive tract infection
Familial Atypical Mole Melanoma Syndrome
Infarction of spinal cord
Pediatric failure to thrive
Idiopathic gynecomastia
Deformity of facial bone
Orthostatic tremor
Diverticulum of renal calyx
Fetal microcephaly
Bilateral sensory hearing loss
Cryptotia
Oral allergy syndrome
Cryopyrin-Associated Periodic Syndromes
Chronic kidney disease stage 1
Pseudobulbar affect
Chronic kidney disease stage 2
Chronic kidney disease stage 3
Chronic kidney disease stage 5
Arachidonic acid measurement
Fetal Pyelectasis
Suspected inflammatory arthritis
Acute rhinosinusitis
Chronic kidney disease stage 4
ISS Stage I Plasma Cell Myeloma
Microscopic Polyarteritis
Myxoid leiomyoma
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Childhood Atypical Teratoid/Rhabdoid Tumor
Adult Classical Hodgkin Lymphoma
Adult Erythroleukemia
Adult Grade III Meningioma
Adult Grade II Meningioma
Adult Grade I Meningioma
Adult Pure Erythroid Leukemia
Childhood Grade III Meningioma
Childhood Grade II Meningioma
Childhood Grade I Meningioma
Childhood Myelodysplastic Syndrome
Childhood Teratoma
Rosette-forming glioneuronal tumor of the fourth ventricle
CD40 Ligand Deficiency
Destructive Arthritis
Short Qt Syndrome
Endolymphatic sac tumor
mixed adenocarcinoma of the stomach
Triple-Negative Breast Cancer Finding
Acute Anterior Wall Myocardial Infarction
Cluster headaches and other trigeminal autonomic cephalgias
Acute post-traumatic headache
Familial migraine
Pure menstrual migraine
Pneumonia due to methicillin susceptible Staphylococcus aureus
Anal intraepithelial neoplasia I and II (AIN I and II) (histologically confirmed)
Fetal anemia
Iatrogenic Jakob-Creutzfeldt disease
Oropharyngeal Carcinoma
Solitary Pulmonary Nodule
"Clinically Isolated Syndrome, CNS Demyelinating"
Molar Incisor Hypomineralization
Polymorphic Reticulosis
Unilateral Nasal Obstruction
Bilateral Nasal Obstruction
Antley-Bixler Syndrome Phenotype
Clear-Cell Sugar Tumors
Idiopathic Interstitial Pneumonias
"Osteoarthritis, Spine"
Periodontal Atrophy
Chronic Lung Injury
"Pancreatitis, Graft"
Taste Perception (mental process)
Pulmonary Aspergillosis
Bronchopulmonary Aspergillosis
Eumycetoma
Beryllium Disease
Constrictive Bronchiolitis
"Bronchiolitis, Exudative"
Focal Emphysema
Tropical Eosinophilic Pneumonia
"Bronchiolitis, Proliferative"
Aggregated erythrocytes
Subacute cutaneous lupus
Pediatric Obesity
Neuronal choristoma
Microgyria
clinical depression
Vitamin D-resistant rickets
Benign Rolandic Epilepsy
T-Cell Prolymphocytic Leukemia
Other specified congenital malformations of skin
Cervical auricle (disorder)
Arthrosclerosis
Oropharyngeal pain
HIV-1 infection
Neurological decompensation
MDS transformation
Acquired Protein S Deficiency
Myopic astigmatism
Neutrophilic asthma
Esophageal intestinal metaplasia
Short-term memory impairment
Paucigranulocytic asthma
Encapsulation reaction
Traumatic occlusion
Bacterascites
Acute radiation toxicity
Hypothalamic diabetes insipidus
Glioneuronal tumor
Angiocentric glioma
Cerebellar ischaemia
Childhood depression
Pleuroperitoneal communication
Histamine intolerance
Venous reflux
Histaminosis
Chronic thromboembolic pulmonary hypertension
Chronic nephritis
Systemic sclerosis [scleroderma]
Sense of smell impaired
Ageusia
Discomfort
Prothrombin G20210A mutation
Postsurgical lymphedema
Hereditary protein S deficiency
"Thrombophilia, hereditary"
Severe hereditary factor VIII deficiency disease without inhibitor
Congenital hypofibrinogenemia
Autoimmune thrombotic thrombocytopenic purpura
"Thrombotic thrombocytopenic purpura, acquired"
Asymptomatic multiple myeloma
Qualitative platelet disorder
Acquired thrombophilia
Hereditary hyperhomocysteinemia
Benign multiple sclerosis
Recurrent abdominal pain
Persistent atrial fibrillation
Heterozygous prothrombin G20210A mutation
Hyperreactio luteinalis
Homozygous protein C deficiency
Heterozygous protein C deficiency
Hereditary thrombocytopenic disorder
Hereditary antithrombin III deficiency
Ulcerative esophagitis
Homozygous protein S deficiency
Surrogate mother (family issue)
Fractional shortening
Allergic rhinitis (disorder)
"Carney Complex, Type 1"
Unilateral deafness
Folliculitis decalvans
Trilateral Retinoblastoma
Hereditary Renal Cell Carcinoma
WARFARIN SENSITIVITY (disorder)
"RENAL HYPOPLASIA, ISOLATED (disorder)"
"Cholestasis, benign recurrent intrahepatic 2"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)"
"HANGOVER, SUSCEPTIBILITY TO (finding)"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB"
Cerebellar cognitive affective syndrome
Post embolisation syndrome
Pheochromocytoma crisis
Sticky platelet syndrome
Gastrosplenic fistula
Antisynthetase syndrome
Olmsted syndrome
Mirror syndrome
Pancreatic neuroendocrine tumour metastatic
Portal hypertensive enteropathy
Hypo HDL cholesterolaemia
Autoimmune pancreatitis
Tongue pigmentation
Kounis Syndrome
Yellow fever vaccine-associated viscerotropic disease
Adrenal incidentaloma
Ureterovesical junction obstruction
Macrovascular disease
Symphysis Pubis Dysfunction
Caudal dysplasia syndrome
Gastroesophageal varices
Low phospholipid-associated cholelithiasis
Fasting hyperglycaemia
Reticular pseudodrusen
Diabetic arteriosclerosis
Retinal angiomatous proliferation
Papulopustular Rash
Eosinophilic peritonitis
Acute kidney injury
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
Extramedullary Hematopoiesis (disorder)
"Aortic Aneurysm, Familial Thoracic 6"
"Erythrocytosis, Familial, 4"
Brugada Syndrome 2
"Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps"
LIPOPROTEIN GLOMERULOPATHY
Familial Cold Autoinflammatory Syndrome 2
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder)"
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
"EPILEPSY, PROGRESSIVE MYOCLONIC 3"
"Skin-Hair-Eye Pigmentation, Variation In, 8"
"KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY"
"Hydrops fetalis (type II, congenital)"
Urinary excretion of sialylated oligosaccharides
Paucity of anterior horn motor neurons
Increased serum beta-hexosaminidase
"Mucolipidosis III Alpha Beta, Atypical"
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
Radioulnar dislocation
Proximal fibular overgrowth
Phalangeal dislocation
Medial deviation of the foot
Small midface
METHEMOGLOBINEMIA TYPE IV
Abnormality of the periventricular white matter
Renal calcium wasting
Hypermagnesiuria
Hypocitraturia
Recurrent Staphylococcus aureus infections
"Hypophosphatasia, Perinatal Lethal"
Increased susceptibility to schizophrenia
"Leydig Cell Hypoplasia, Type II"
"PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO"
"PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)"
"DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)"
Combined Cellular And Humoral Immune Defects With Granulomas
Increased urinary glycerol
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)"
Congenital localized absence of skin
Epidermolysis bullosa inversa dystrophica
JEB-I
"Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant"
"Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)"
"Ectopia Lentis, Isolated, Autosomal Recessive"
Combined Saposin Deficiency
Combined Oxidative Phosphorylation Deficiency 5
Antenatal onset
"Hypomagnesemia 4, Renal"
Cuboid-shaped vertebral bodies
Rhizo-meso-acromelic limb shortening
Curly eyelashes
"Myopathy, Early-Onset, with Fatal Cardiomyopathy"
Dystonia with Cerebellar Atrophy
Brisk reflexes
"DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)"
"DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)"
"DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)"
Vascular tortuosity
Infantile nystagmus
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6 (disorder)"
BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 14 (disorder)
RENAL-HEPATIC-PANCREATIC DYSPLASIA
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Decreased numbers of nephrons
Ductal plate malformation
"Anemia, Hypochromic Microcytic, With Iron Overload"
"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive"
"Amelogenesis Imperfecta, Hypomaturation Type, Iia1"
"Amelogenesis Imperfecta, Type Ic"
Fundus atrophy
Hyperthreoninuria
Foveal hypoplasia (finding)
Absent skin pigmentation
"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma"
"Skin/Hair/Eye Pigmentation, Variation In, 7"
Lethal short-limbed short stature
"Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans"
Areflexia of upper limbs
"SPHEROCYTOSIS, TYPE 1 (disorder)"
"SPHEROCYTOSIS, HEREDITARY, 2"
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
"NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)"
"Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant"
"Protein C Deficiency, Acquired"
Cerebellar stroke
Scleral thickening
Foveoschisis
"Seizures, intractable"
Reduced bone mineral density
Anterior radial head dislocation
Palmoplantar Hyperkeratosis And True Hermaphroditism
Truncal titubation
"Aortic aneurysm, familial thoracic 3"
Feeding difficulties in infancy
"Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty"
"FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)"
Fragile teeth
"GASTROINTESTINAL STROMAL TUMOR, FAMILIAL"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding)"
"Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant"
"Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy"
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
"ASTROCYTOMA, LOW-GRADE, SOMATIC"
Abnormality of finger
Abnormality of toe
Myokymia 1
"ALCOHOL SENSITIVITY, ACUTE"
Subperiosteal bone formation
Chromosome 3q29 Deletion Syndrome
"LUNG CANCER, SUSCEPTIBILITY TO"
Mullerian Aplasia and Hyperandrogenism
Narrow palpebral fissure
"BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)"
Refractory macrocytic anemia
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
Enlarged peripheral nerve
Li-Fraumeni-Like Syndrome
"BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC"
Abnormal eyelash morphology
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding)"
"CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO (finding)"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding)"
Arginine:Glycine Amidinotransferase Deficiency
Dyschromatosis Universalis Hereditaria 2
"Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis"
Kahrizi Syndrome
LEBER CONGENITAL AMAUROSIS 13
"MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)"
"Polymicrogyria, Bilateral Occipital"
"Spherocytosis, Type 5"
"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract"
Distal muscle atrophy due to neurologic disease
Normal serum phytanic and pristanic acid
"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4"
CONE-ROD DYSTROPHY 12 (disorder)
"EPISODIC ATAXIA, TYPE 6 (disorder)"
"Spherocytosis, Type 4"
Endocrine-Cerebroosteodysplasia
"CILIARY DYSKINESIA, PRIMARY, 12"
"CILIARY DYSKINESIA, PRIMARY, 11"
"Deafness, Autosomal Recessive 1b"
"Deafness, Autosomal Dominant 2B"
"Deafness, Autosomal Dominant 3B"
"BARDET-BIEDL SYNDROME 1, MODIFIER OF"
Duplication 15q11-q13 Syndrome
Chromosome 22q11.2 Microduplication Syndrome
Capillary Malformation Without Arteriovenous Malformation
"POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC"
"DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO"
Desmoid Tumor Caused By Somatic Mutation
"Adenylate Kinase Deficiency, Hemolytic Anemia Due To"
HAIR MORPHOLOGY 1
"Convulsions, Benign Familial Infantile, 4"
Chromosome 15q26-Qter Deletion Syndrome
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)"
"Mental Retardation, Autosomal Dominant 5"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 10"
Chromosome 6pter-P24 Deletion Syndrome
"Mental Retardation, Autosomal Dominant 4"
"Mental Retardation, Autosomal Dominant 3"
AMYOTROPHIC LATERAL SCLEROSIS 11
Retinitis Pigmentosa 46
"INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE"
Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 7
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12
"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1"
Adiponectin Deficiency
Hypoadiponectinemia
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2"
"BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2"
"OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO"
"Neutropenia, Severe Congenital, Autosomal Recessive 4"
"Myopathy, Congenital, Compton-North"
"Spastic Paraplegia 42, Autosomal Dominant"
Slender long bones with narrow diaphyses
"Retinitis Pigmentosa 7, Digenic"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3"
Lumbosacral meningocele
Nephroblastomatosis
Unossified sacrum
True anophthalmia
Acholic stool
"NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)"
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
"PARATHYROID ADENOMA, SOMATIC"
Dyschromatosis Universalis Hereditaria 1
"Deafness, Congenital, and Onychodystrophy, Autosomal Dominant"
"CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)"
Coumarin Sensitivity
"DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 6"
"EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT"
Holoprosencephaly 10
"Amelogenesis Imperfecta, Hypomaturation Type, Iia2"
Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 4
"Lipodystrophy, Congenital Generalized, Type 3"
"Pyloric Stenosis, Infantile Hypertrophic, 5"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)"
"CILIARY DYSKINESIA, PRIMARY, 10"
"Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb"
"Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
Anisopoikilocytosis
"SCHIZOPHRENIA, SUSCEPTIBILITY TO"
Open operculum
Pancreatic squamous cell carcinoma
"DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO"
"Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant"
"CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1"
Optic nerve dysplasia
Hepatoblastoma Caused By Somatic Mutation
"Skin-Hair-Eye Pigmentation, Variation In, 4"
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
"METABOLIC SYNDROME, SUSCEPTIBILITY TO"
Diamond-Blackfan Anemia 1
"PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)"
Increased serum insulin-like growth factor 1
"SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO"
"Skeletal Defects, Genital Hypoplasia, And Mental Retardation"
Complement Component 6 Deficiency
"CILIARY DYSKINESIA, PRIMARY, 9"
"Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism"
"Leukodystrophy, Hypomyelinating, 6"
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)"
"Alopecia, Androgenetic, 3"
"DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)"
"Bone Fragility with Contractures, Arterial Rupture, and Deafness"
"USHER SYNDROME, TYPE IIB, FORMERLY"
Proximal radio-ulnar synostosis
Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2B
"SARCOIDOSIS, SUSCEPTIBILITY TO, 2"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
COWDEN-LIKE SYNDROME (disorder)
Post-angioplasty coronary artery restenosis
Inflammatory Bowel Disease 21
"Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1"
"BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1"
"OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1"
"Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator"
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
"SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)"
Chromosome 2q32-Q33 Deletion Syndrome
Premature Ovarian Failure 6
"BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO"
"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE"
"Osteopetrosis, Autosomal Recessive 7"
CD59 Deficiency
"Porokeratosis, Disseminated Superficial Actinic, 3"
Birk-Barel Mental Retardation Dysmorphism Syndrome
JOUBERT SYNDROME 8 (disorder)
"Microtia, Hearing Impairment, And Cleft Palate"
"Progeroid Syndrome, Congenital, Petty Type"
"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2"
"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1"
JOUBERT SYNDROME 9 (disorder)
"MECKEL SYNDROME, TYPE 6 (disorder)"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)"
"LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO"
Dilatated internal auditory canal
Hypoplasia of the cochlea
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6"
Inflammatory Bowel Disease 19
"Skin-Hair-Eye Pigmentation, Variation In, 11"
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5"
"Skin-Hair-Eye Pigmentation, Variation In, 10"
Inflammatory Bowel Disease 17
MYD88 Deficiency
Inflammatory Bowel Disease 16
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)"
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 13
Chromosome 10q23 Deletion Syndrome
Inflammatory Bowel Disease 12
"Atrial Fibrillation, Familial, 7"
"Leukodystrophy, Hypomyelinating, 4"
"Leukodystrophy, hypomyelinating"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 3"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
Congenital microcephaly
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 4"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15"
"Atrial Fibrillation, Familial, 6"
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
RETINITIS PIGMENTOSA 29 (disorder)
"Epileptic Encephalopathy, Early Infantile, 4"
Cerebral hypomyelination
"Cardiomyopathy, Dilated, 1AA"
Epidermolysis Bullosa Simplex With Pyloric Atresia
Alveolar capillary dysplasia
OROFACIAL CLEFT 11
"Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant"
Aplasia of the sweat glands
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12"
Oculoauricular Syndrome
"AUTISM, SUSCEPTIBILITY TO, 15"
"Cardiomyopathy, Familial Hypertrophic, 11"
RETINITIS PIGMENTOSA 41 (disorder)
Hypophosphatemic Rickets And Hyperparathyroidism
"Alopecia, Neurologic Defects, and Endocrinopathy Syndrome"
"Hypouricemia, Renal, 2"
"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2"
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
DYSTONIA 16 (disorder)
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
"Spastic Paraplegia 39, Autosomal Recessive"
"Cataract, Juvenile, With Microcornea And Glucosuria"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9"
"Congenital Disorder Of Glycosylation, Type In"
Thrombocytopenia 4
Chromosome 15q13.3 Microdeletion Syndrome
Hemisacrum
"Deafness, Autosomal Dominant 2A"
Decreased activity of mitochondrial complex I
"Rett Syndrome, Zappella Variant"
Mildly reduced visual acuity
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7"
Age-Related Macular Degeneration type 11
Riddle Syndrome
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6"
Stress-induced polymorphic ventricular tachycardia
"Prostate Cancer, Hereditary, 13"
"Episodic Ataxia, Type 7"
"Surfactant Metabolism Dysfunction, Pulmonary, 4"
"Hypospadias 2, X-Linked"
"Protoporphyria, Erythropoietic, X-Linked Dominant"
"SPASTIC PARAPLEGIA 34, X-LINKED (disorder)"
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
"Myopathy, Reducing Body, X-Linked, Childhood-Onset"
"Myopathy, Reducing Body, X-Linked, Early-Onset, Severe"
"MENTAL RETARDATION, X-LINKED 95"
"Alopecia, Androgenetic, 2"
"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS"
"Mental Retardation, X-Linked, Syndromic, Turner Type"
"MENTAL RETARDATION, X-LINKED 94 (disorder)"
"MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)"
"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT"
Myofibrillar Myopathy
"Hypospadias 1, X-Linked"
Schizophrenia-like symptoms (uncommon)
"Mental Retardation, X-Linked, Syndromic, Christianson Type"
"Mental Retardation, X-Linked, With Panhypopituitarism"
Mood instability
Hoarse cry
Thrombocytopenia 3
Three M Syndrome 1
C2-C3 subluxation
Short dental roots
"SPHEROCYTOSIS, TYPE 3 (disorder)"
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Aplasia of the ulna
Absent humerus
"UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 4"
"Hyperphenylalaninemia, Non-Pku Mild"
CRANIOOSTEOARTHROPATHY
Amyotrophic Lateral Sclerosis 9
Lethal Arthrogryposis With Anterior Horn Cell Disease
"CILIARY DYSKINESIA, PRIMARY, 7 (disorder)"
"CARDIOMYOPATHY, DILATED, 2A (disorder)"
"Cardiomyopathy, Dilated, 1z"
"Cardiomyopathy, Dilated, 1y"
Brugada Syndrome 4
Brugada Syndrome 3
"Prostate Cancer, Hereditary, 12"
"Chromosome 22q11.2 Deletion Syndrome, Distal"
Long Qt Syndrome 11
Long Qt Syndrome 10
LONG QT SYNDROME 9 (disorder)
Temple-Baraitser Syndrome
Hypoplasia of terminal phalanges
"Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs"
BESTROPHINOPATHY
Elliptocytosis 1
"AXENFELD-RIEGER SYNDROME, TYPE 3"
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8
"SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE"
"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1"
RETINITIS PIGMENTOSA 2 (disorder)
"APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)"
Gastrointestinal irritation
Giant Platelet Count (procedure)
Glucagon-like Peptide-1 measurement
Heinz-Ehrlich Body Measurement
Hyperdiploid B Acute Lymphoblastic Leukemia
Hypodiploid B Acute Lymphoblastic Leukemia
Interleukin 10 Measurement
Interleukin 12 Measurement
Interleukin 13 Measurement
Interleukin 16 Measurement
Interleukin 17 Measurement
Interleukin 18 Measurement
Interleukin 19 Measurement
Interleukin 25 Measurement
Interleukin 2 Measurement
Interleukin 4 Measurement
Interleukin 5 Measurement
Interleukin 7 Measurement
Interleukin 8 Measurement
Interleukin 9 Measurement
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome Type 1
Macrophage Colony Stimulating Factor Measurement
Marfan Syndrome Type II
Matrix Metalloproteinase 8 Measurement
Merkel Cell Polyomavirus Infection
Anisocyte Measurement
Metastatic Ductal Breast Carcinoma
Metastatic Lobular Breast Carcinoma
Monoclonal B-Cell Lymphocytosis
"High Grade B-Cell Lymphoma, Not Otherwise Specified"
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
"B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified"
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
Myeloperoxidase Measurement
Bite Cell Count (procedure)
Pappenheimer Body Count (lab procedure)
Pediatric follicular lymphoma
Pediatric nodal marginal zone lymphoma
Pleomorphic Variant Mantle Cell Lymphoma
Resistin Measurement
Complement C3 Measurement
Splenic diffuse red pulp small B-cell lymphoma
Split-Hand/Foot Malformation
Cytokine Measurement
Dedifferentiated Solitary Fibrous Tumor
"Syndactyly, type 2"
Follicular T-Cell Lymphoma
Waardenburg Syndrome Type 2
Adiponectin Measurement
Ejection fraction (finding)
"WAARDENBURG SYNDROME, TYPE IIE"
"SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)"
"EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE"
"NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO (finding)"
MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 9
Omenn Syndrome
Cystic dermoid choristoma
Irritation - emotion
malignant neoplasm of bone marrow
Hypothalamic-pituitary-adrenal axis dysfunction
Nonischemic priapism
Hepatitis B and hepatitis C
Steatohepatitis
Osteonecrosis of Jaw
Ischemic priapism
Infection by Trypanosoma brucei brucei
Stuttering priapism
Appendiceal stump
Stimulant dependence
Combined immunodeficiency disease
Paraneoplastic myositis
Actual Effective Cognition
Actual Aspiration
Severe hypoxic ischemic encephalopathy
Benign endometrial hyperplasia
Tumor lysis syndrome (spontaneous)
Gout attack
Novel influenza A/H1N1
obsolete Combined hyperlipidemia
Enteritis due to Norovirus
Arylsulfatase A Deficiency
alpha-L-Iduronidase Deficiency
7-Dehydrocholesterol Reductase Deficiency
Hematopoetic Myelodysplasia
"Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency"
Haim-Monk Syndrome
"Polyposis, Adenomatous Intestinal"
Familial Intestinal Polyposis
"Hyperpotassemia and Hypertension, Familial"
Saccular Aneurysm
Total Hexosaminidase Deficiency
Deficiency of Platelet Glycoprotein 1b
Androgen Receptor Deficiency
Congenital Tracheobronchomegaly
Slow-Flow Phenomenon
Platelet alpha-Granule Deficiency
Susac Syndrome
Degenerative Intervertebral Discs
Airway Remodeling
Steroid Sulfatase Deficiency Disease
Peritoneal Sclerosis
Encapsulating Peritoneal Sclerosis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Vestibulodynia
Propionicaciduria
"Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant"
Hereditary Angioedema Types I and II
Hereditary Angioedema Type I
Thrombotic Microangiopathies
Poroma
Protein Misfolding Disorders
TDP-43 Proteinopathies
Alcoholic Steatohepatitis
beta-Galactosidase Deficiency
Fetal Mummification
Deficiency of Uroporphyrinogen III Synthase
Vitamin K Deficiency Bleeding
Acrospiroma
Sulfoiduronate Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency
"ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY"
Macroencephaly
Fibrosis of pleura
Osmotic demyelination syndrome
Infectious pneumonitis
Meniscal degeneration
Ischemic nephropathy
Breakthrough cancer pain
Sudden arrhythmic death syndrome
Verbal hallucinations
Borderline hypercholesterolaemia
Urachal abscess
Henoch-Schonlein purpura nephritis
Bladder dysplasia
Aneurysm enlargement
Alphaviral infection
Ultrafiltration failure
Disseminated BCG
Burkholderia cenocepacia infection
Burkholderia multivorans infection
Disseminated mycobacterium avium complex infection
Methylenetetrahydrofolate reductase polymorphism
Ventilation perfusion mismatch
Macrognathia
Auditory neuropathy spectrum disorder
Secondary osteoarthritis
"Multiple system atrophy, cerebellar variant"
Edema of dorsum of hand
Postexertional fatigue
Ductal Carcinoma In Situ with Microinvasion
Sessile Serrated Adenoma/Polyp
Nonverbal learning disorder
Autoimmune inflammation of skeletal muscle
Neoplasm of skeletal system
Necrotizing soft tissue infection
Acquired long QT syndrome
Alpha ketoadipic aciduria
Cerebral Small Vessel Diseases
Full thickness hole of macula lutea
Pulmonary Mycobacterium avium complex infection
Bone Fibrosarcoma
Arm span
Lentigo maligna melanoma
Stress ulcer
Promyelocytic leukemia
Juvenile-Onset Vitelliform Macular Dystrophy
"Hyalinosis, Systemic"
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
"Spondyloepiphyseal dysplasia, congenita"
Kashin-Beck Disease
OROFACIODIGITAL SYNDROME VI
Combined D-2- and L-2-hydroxyglutaric aciduria
Congenital idiopathic intestinal pseudoobstruction
Familial ectopia lentis
"DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)"
Bile acid malabsorption
Complicated malaria
Distended bowel
Peripheral lymphadenopathy
Hysteromyoma
Infection induced asthma
Destructive thyroiditis
Hypoinsulinaemia (disorder)
Hypopnea syndrome
Vitreomacular adhesion
Executive dysfunction
Rhodococcus equi infection
Descending thoracic aortic dissection
H5N1 influenza
Autoimmune neuropathy
Sensorineural Deafness With Mild Renal Dysfunction
Metaphyseal Anadysplasia 1
"CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS"
"Corneal Dystrophy, Subepithelial Mucinous"
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
"Spondyloepimetaphyseal Dysplasia, Pakistani Type"
Spondylodysplasia And Premature Pubarche
Lumbar scoliosis
"KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)"
Perifollicular fibrosis
"Leukocyte Adhesion Deficiency, Type III"
Brugada Syndrome 5
"CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)"
"Spondyloepimetaphyseal Dysplasia, Aggrecan Type"
"QUESTION MARK EARS, ISOLATED"
Atrial Septal Defect 5
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
"Isolated Growth Hormone Deficiency, Type IB"
SeSAME syndrome
Renal sodium wasting
"LEAD POISONING, SUSCEPTIBILITY TO"
Progressive extrapyramidal movement disorder
Large face
Mitchell-Riley Syndrome
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT"
Hypoplastic pituitary gland
Cortical malformations
"CARDIOMYOPATHY, INFANTILE HYPERTROPHIC"
Ovotesticular Disorders of Sex Development
"46,Xy Gonadal Dysgenesis, Complete, Sry-Related"
"46,Xy True Hermaphroditism, Sry-Related"
"Rett Syndrome, Atypical"
Otopalatodigital Spectrum Disorder
Slanting of the palpebral fissure
"Glycogen Storage Disease, Type IXA2"
Chromosome Xq28 Duplication Syndrome
"Thrombophilia, X-Linked, Due To Factor Ix Defect"
JOUBERT SYNDROME 10 (disorder)
"Mental Retardation, X-Linked, Znf711-Related"
Chromosome Xp11.23-P11.22 Duplication Syndrome
"Emery-Dreifuss Muscular Dystrophy 6, X-Linked"
"Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness"
Paranasal sinus hypoplasia
Mild dysmorphic features
"Facial dysmorphism, mild"
Vater Association With Macrocephaly And Ventriculomegaly
"Gm2-Gangliosidosis, Variant B1"
"Refsum Disease, Adult, 1"
"Refsum Disease, Adult, 2"
Prominence of the premaxilla
Aplasia/Hypoplasia of the radius
"Oculodentodigital Dysplasia, Autosomal Recessive"
"NEUROBLASTOMA, SUSCEPTIBILITY TO"
Collapsing glomerulopathy
"Methemoglobinemia, Type I"
"Methemoglobinemia, Type Ii"
"Nadh-Cytochrome B5 Reductase Deficiency, Type I"
"Nadh-Cytochrome B5 Reductase Deficiency, Type Ii"
Dumbbell-shaped long bone
"AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1"
Motor axonal neuropathy
Folate malabsorption
Folate-responsive megaloblastic anemia
AICARDI-GOUTIERES SYNDROME 5 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
Cortical gyral simplification
"CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)"
Abnormal isoelectric focusing of serum transferrin
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
"Macrothrombocytopenia-Stomatocytosis, Mediterranean"
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6"
Musician's Dystonia
"SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)"
"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1"
Intermittent generalized erythematous papular rash
Growth Hormone Deficiency With Pituitary Anomalies
Emery-Dreifuss Muscular Dystrophy 3
"Hypokalemic Periodic Paralysis, Type 2"
Leber Congenital Amaurosis 14
"Retinal Dystrophy, Early-Onset Severe, Lrat-Related"
"RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED"
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Plasminogen Activator Inhibitor-1 Deficiency
Roifman-Chitayat Syndrome
"Lipodystrophy, Congenital Generalized, Type 4"
Rhabdoid Tumor Predisposition Syndrome 2
"Chondrodysplasia, Megarbane-Dagher-Melki Type"
Miyoshi Muscular Dystrophy 3
"Hypophosphatemic Rickets, Autosomal Recessive, 2"
Exudative Vitreoretinopathy 5
Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 9
"Deafness, Autosomal Recessive 79"
"Bile Acid Malabsorption, Primary"
"HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO"
"Charcot-Marie-Tooth Disease, Axonal, Type 2n"
"Cardiomyopathy, Dilated, 1FF"
"LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO"
Absent/shortened outer dynein arms
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1"
Karak Syndrome
"Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2"
Pitt-Hopkins-Like Syndrome 1
"Polymicrogyria, Asymmetric"
"Progeria Syndrome, Childhood-Onset"
Oculootodental syndrome
"Hearing loss, sensorineural (high frequency)"
Enamel defects
Omodysplasia 2
"Fibrosis of Extraocular Muscles, Congenital, 3C"
"Malignant Rhabdoid Tumor, Somatic"
"Cap Myopathy, Tpm2-Related"
"CAP MYOPATHY, TPM3-RELATED (disorder)"
Bifid Nose With Or Without Anorectal And Renal Anomalies
"FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1"
"LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1"
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6"
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4"
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3"
"Waardenburg Syndrome, Type 4c"
"Waardenburg Syndrome, Type 4b"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15"
"Tsc2 Angiomyolipomas, Renal, Modifier Of"
"Cardiomyopathy, Dilated, 1EE"
"Cardiomyopathy, Familial Hypertrophic, 14"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8"
"Cardiomyopathy, Familial Hypertrophic, 13"
"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2"
Focal Segmental Glomerulosclerosis 5
"Factor XIII, B Subunit, Deficiency Of"
"Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3"
"Factor Xiii, A Subunit, Deficiency Of"
"Nemaline Myopathy 3, With Intranuclear Rods"
"Myopathy, Actin, Congenital, With Cores"
Median cleft lip and palate
Cone-Rod Dystrophy 13
"Amyotrophic Lateral Sclerosis 6, Autosomal Recessive"
Noonan Syndrome 6
"LEPROSY, SUSCEPTIBILITY TO, 5"
"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C"
Chromosome 17p13.3 Duplication Syndrome
"Amelogenesis Imperfecta, Hypomaturation Type, Iia3"
"SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)"
"MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)"
"Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency"
Weill-Marchesani-Like Syndrome
"RETINITIS PIGMENTOSA, CONCENTRIC (disorder)"
"CILIARY DYSKINESIA, PRIMARY, 13"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13"
Polymicrogyria With Optic Nerve Hypoplasia
"Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities"
Chromosome 5p13 Duplication Syndrome
Marie Unna Hereditary Hypotrichosis 1
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
NONPAPILLARY RENAL CARCINOMA 1 LOCUS
GLIOMA SUSCEPTIBILITY 1
"Growth retardation, pre- and postnatal"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9"
"EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6"
"EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11"
Neuronal loss in basal ganglia
Basal ganglia gliosis
Iodide organification defect
"Cardiomyopathy, Dilated, 1DD"
PARKINSON DISEASE 16 (disorder)
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4"
"INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE"
"Parkinsonism-Dystonia, Infantile"
Brugada Syndrome 8
"Cardiomyopathy, Dilated, 1CC"
Brugada Syndrome 7
Brugada Syndrome 6
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
"Neuropathy, Hereditary Sensory And Autonomic, Type IIB"
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)"
"Epilepsy, Benign Neonatal, 1, And-Or Myokymia"
"Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related"
Macrothrombocytopenia
"Neutropenia, Severe Congenital, Autosomal Dominant 2"
"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2"
Hypotrichosis And Recurrent Skin Vesicles
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5"
"GLAUCOMA 1, OPEN ANGLE, O"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5"
"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)"
"Tooth Agenesis, Selective, 6"
"Polycystic kidney disease, type 2"
"MICROPHTHALMIA, ISOLATED 4 (disorder)"
CONE DYSTROPHY 4 (disorder)
Achromatopsia 5
"Hyperuricemic Nephropathy, Familial Juvenile 2"
"BARTTER SYNDROME, TYPE 4B"
CLAPO Syndrome
Atrial Septal Defect 6
"Glaucoma 3, Primary Congenital, D"
"46, XY Sex Reversal 5"
Nijmegen Breakage Syndrome-Like Disorder
"Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5"
"Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay"
"Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis"
Metaphyseal Anadysplasia 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
"46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO"
"Bifid Nose, Autosomal Dominant"
Bifid thoracic vertebrae
Hypoplastic sacral vertebrae
Hypoplastic coccygeal vertebrae
Mild radial hypoplasia
"AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED"
"Cerebral Amyloid Angiopathy, Gsn-Related"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL"
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
"Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1"
Mitochondrial respiratory chain defects
Neurodegeneration Due To Cerebral Folate Transport Deficiency
"LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10"
"Pituitary Hormone Deficiency, Combined, 1"
Dursun Syndrome
GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 2
Glycogen Storage Disease IXC
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
"NEUROBLASTOMA, SUSCEPTIBILITY TO, 3"
"NEUROBLASTOMA, SUSCEPTIBILITY TO, 2"
Hirschsprung disease ganglioneuroblastoma
"Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1"
"ALCOHOL DEPENDENCE, PROTECTION AGAINST"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7"
"Febrile Convulsions, Familial, 3a"
"Retinitis Pigmentosa, Juvenile, Aipl1-Related"
"CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)"
"Generalized Epilepsy With Febrile Seizures Plus, 7"
"Retinitis Pigmentosa, Juvenile, SPATA7-Related"
"ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7"
"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT"
Emery-Dreifuss Muscular Dystrophy 4
Spermatogenic Failure 7
OPTIC ATROPHY 7 (disorder)
"Cataract, Autosomal Recessive Congenital 3"
"46, XY Disorders of Sex Development"
PREMATURE OVARIAN FAILURE 7 (disorder)
Multiple Synostoses Syndrome 3
"Ventricular Fibrillation, Paroxysmal Familial, 2"
Long Qt Syndrome 12
"Myopathy, Myofibrillar, Bag3-Related"
"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE"
"Leukoencephalopathy, Cystic, Without Megalencephaly"
"Hypomyelination, Global Cerebral"
"Ventricular Fibrillation, Paroxysmal Familial, 1"
"Cerebral Palsy, Spastic Quadriplegic, 1"
RETINITIS PIGMENTOSA 42
"Cutis Laxa, Autosomal Recessive, Type IIB"
"Growth Retardation, Developmental Delay, Coarse Facies, And Early Death"
"Congenital Disorder of Glycosylation, Type Io"
"Spastic Paraplegia-50, Autosomal Recessive"
Glycogen Storage Disease XIV
Glycogen Storage Disease XIII
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2"
Three M Syndrome 2
"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi"
"Cerebral Palsy, Spastic Quadriplegic, 2"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8"
"Cardiomyopathy, Dilated, 1BB"
Erythrocyte Amp Deaminase Deficiency
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
"Neuropathy, Hereditary Sensory And Autonomic, Type IIA"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C"
"46,XY Sex Reversal 4"
response to heparin
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Myeloid leukemia associated with Down Syndrome
Treatment related leukaemia
S-Beta Thalassemia
Indeterminate dendritic cell tumor
Disseminated Juvenile Xanthogranuloma
Lymphotactin Measurement
Factor VII measurement
Factor VIII measurement
Antithrombin Antigen Measurement
Interferon Alpha Measurement
Interferon Gamma Measurement
Granulocyte Colony Stimulating Factor Measurement
Stem Cell Factor Measurement
Vascular Cell Adhesion Molecule 1 Measurement
Mixed phenotype acute leukemia
Mixed phenotype acute leukemia T/myeloid
Myeloid Proliferations Associated with Down Syndrome
Acute Myeloid Leukemia with Gene Mutations
Acute myeloid leukemia with mutated NPM1
Acute myeloid leukemia with mutated CEBPA
Refractory Neutropenia
Refractory Thrombocytopenia
Refractory Cytopenia of Childhood
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Chronic sclerosing sialadenitis
Unintentional Material Aspiration
"Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2"
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Infectious Otitis Media
Bile Acid Synthesis Defect
Liver Disease Associated with Cystic Fibrosis
Childhood Diabetes Mellitus
Coronary Microvascular Disease
HFE-Associated Hereditary Hemochromatosis
Stage IA Breast Cancer AJCC v7
X-Linked Inherited Disorder
HPV positive oropharyngeal squamous cell carcinoma
"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE"
"DEAFNESS, AUTOSOMAL RECESSIVE 86"
"DEAFNESS, AUTOSOMAL RECESSIVE 88"
Somnolence
Chemical Gastritis
Tendency to fall
Malignant neuroendocrine tumor
Anaplastic diffuse large B-cell lymphoma
Lymphoblastic B-cell lymphoma
Lymphoblastic T-cell lymphoma
Non-follicular lymphoma
"Acute lymphoblastic leukemia, in relapse"
Acute myeloblastic leukemia with t(8;21)
"Chronic myeloid leukemia, BCR/ABL-positive"
AML M5b
"Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified"
Severe alpha thalassemia
Triple gene defect alpha thalassemia
Severe beta thalassemia
Deficiency of factor V [labile]
Deficiency of factor VII [stable]
Deficiency of factor X [Stuart-Prower]
Deficiency of factor XII [Hageman]
Polycythemia due to erythropoietin
Polycythemia due to stress
Essential cryoglobulinemia
Type 2 diabetes mellitus with periodontal disease
Isolated deficiency of pituitary hormone
Necrosis of pituitary gland (postpartum)
Pituitary short stature
Constitutional delay of puberty
Long chain/very long chain acyl CoA dehydrogenase deficiency
"GM2-GANGLIOSIDOSIS, ADULT"
Mucolipidosis II [I-cell disease]
Pseudovitamin D deficiency
"Alcohol dependence with withdrawal, unspecified"
Acute disseminated encephalitis and encephalomyelitis (ADEM)
Familial torsion dystonia
Peroneal muscular atrophy (axonal type) (hypertrophic type)
Dominantly inherited sensory neuropathy
Severe [Duchenne] muscular dystrophy
Myotubular (centronuclear) myopathy
"Complex regional pain syndrome I, unspecified"
Echovirus enteritis
"Arcus senilis, bilateral"
Age-related cortical cataract
"Panuveitis, bilateral"
"Hypermetropia, bilateral"
Acute pulmonary embolism
Nonrheumatic aortic (valve) stenosis
Goldblatt's kidney
Sepsis due to Streptococcus pneumoniae
Pseudomonas aeroginosa
Chronic sialoadenitis
Barrett's esophagus without dysplasia
Left sided colitis
Post traumatic osteoarthritis
Wegener's granulomatosis with renal involvement
Autoimmune disease (systemic) NOS
Juvenile and adolescent idiopathic scoliosis
Other Creutzfeldt-Jakob disease
Nephrotic syndrome with focal and segmental hyalinosis
Nephrotic syndrome with focal and segmental sclerosis
Nephrotic syndrome with focal glomerulonephritis
Page kidney
Neurogenic bladder dysfunction
"Arnold-Chiari syndrome, type IV"
Congenital malformation of cornea NOS
Isomerism of atrial appendages with asplenia or polysplenia
Patent or persistent ostium secundum defect (type II)
Patent or persistent sinus venosus defect
Nonruptured congenital cerebral aneurysm
Congenital malformation of cerebral vessels NOS
"Split foot, bilateral"
Hemivertebra fusion or failure of segmentation with scoliosis
Asphyxiating thoracic dysplasia [Jeune]
Inherited keratosis palmaris et plantaris
Keratosis follicularis [Darier-White]
Trisomy 18 and Trisomy 13
"Short Stature, CTCAE"
Autosomal dominant focal segmental glomerulosclerosis
Sporadic olivopontocerebellar atrophy
Pleomorphic lobular carcinoma in situ
Edema of dorsum of foot
Macroalbuminuric diabetic nephropathy
Low density lipoprotein receptor mutation
Apocrine intraductal carcinoma
Familial immunoglobulin A nephropathy
Left sided ulcerative colitis
Idiopathic rapidly progressive glomerulonephritis
Testicular dysgenesis syndrome
Deficiency of succinate-CoA ligase
Glycogen storage disease type Ia
Chronic ulcerative colitis
Cavernous Hemangioma of Brain
Thoracic aortic ectasia
Influenza NEC
Post traumatic seizures
Visuospatial deficit
Clinically isolated syndrome
Bilateral Wilms Tumor
Pulmonary Fibrosis - from Asbestos Exposure
Intersex Conditions
Sex Differentiation Disorders
Human Babesiosis
Partial Monosomy
Familial acanthosis nigricans
Achondroplastic dwarfism
Hepatic ductular hypoplasia
Familial antiphospholipid syndrome
Sudden unexpected nocturnal death syndrome
Familial vascular leukoencephalopathy
Neutropenia and hyperlymphocytosis with large granular lymphocytes
Autoimmune limbic encephalitis
Acute malaria
Chronic malaria
Irritable heart
Optic Disc Edema
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
Familial pityriasis rubra pilaris
Hypopituitarism and septooptic 'dysplasia'
Stenotrophomonas maltophilia bacteremia
"Von willebrand factor, deficiency"
"Premature ovarian failure, familial"
Primary angiitis of the central nervous system
Primary cortisol resistance
Ramer Ladda syndrome
Rasmussen subacute encephalitis
"Cataract, congenital, with microcornea or slight microphthalmia"
"Cerebellar degeneration, subacute"
"Congenital thrombotic disease, due to Protein C deficiency"
Benign essential blepharospasm
Beta-sarcoglycanopathy
Bidirectional tachycardia
Reginato Schiapachasse syndrome
N-Acetylneuraminic acid storage disease
"Interferon gamma, receptor 1, deficiency"
"Kallmann syndrome, type 3, recessive"
Abdominal obesity metabolic syndrome
Carrington syndrome
Gastro-enteropancreatic neuroendocrine tumor
Acromesomelic dysplasia Hunter-Thompson type
Acroosteolysis dominant type
Acute erythroleukemia
Acute erythroleukemia - M6a subtype
Acute myeloid leukemia FAB-M6
Acute erythroleukemia - M6b subtype
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 5
Paranasal sinus teratocarcinosarcoma (type)
"Maple syrup urine disease, type 1A"
"Maple syrup urine disease, type 1B"
Dyschromatosis universalis hereditaria
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1X
Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2D
Congenital disorder of glycosylation type 2E
"Congenital disorder of glycosylation, type 2G"
"Cystinosis, benign, nonnephropathic"
Dandy Walker variant
Split hand foot deformity 1
"Amyloidosis, Cerebral, with Spongiform Encephalopathy"
"Neutropenia, severe chronic"
"Nevi flammei, familial multiple"
Pseudoangiomatous stromal hyperplasia
"Pulmonary alveolar proteinosis, congenital"
"Pancreatic cancer, adult"
"Pancreatic carcinoma, familial"
Pancreatic islet cell tumors
Hawkinsinuria
"Heart defect, tongue hamartoma and polysyndactyly"
HEM dysplasia
Marfan Syndrome type 2
Marie Unna congenital hypotrichosis
"Cholestasis, progressive familial intrahepatic 4"
Desmoplastic cerebral astrocytoma of infancy
Dianzani autoimmune lymphoproliferative syndrome
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
"Collagenopathy, type 2 alpha 1"
Cone rod dystrophy amelogenesis imperfecta
Familial apoceruloplasmin deficiency
Maternally Inherited Leigh Syndrome
"Osteogenesis imperfecta, type 5"
Hydrolethalus syndrome
"Hypercalciuria, childhood idiopathic"
"Myasthenic syndrome, congenital, postsynaptic slow-channel"
"Myopia, susceptibility to"
Myostatin-related muscle hypertrophy
Fetal megacystis
Megalocytic interstitial nephritis
Meier Blumberg Imahorn syndrome
Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 3
"Crigler Najjar syndrome, type 2"
Pediatric Crohn's disease
"Cutis laxa, recessive"
Blepharophimosis syndrome type 1
Blepharophimosis syndrome type 2
Nondystrophic myotonia
Synostotic Anterior Plagiocephaly
Male sterility due to Y-chromosome deletions
Juvenile pauciarticular chronic arthritis
Pediatric ulcerative colitis
"Polycystic kidney disease, type 1"
Neonatal herpes
Nephropathic cystinosis
Neural crest tumor
Prinzmetal's variant angina
Craniofacial dysostosis type 1
Urachal adenocarcinoma
Urachal cancer
"Usher syndrome, type 1A"
"Usher syndrome, type 1B"
"Usher syndrome, type 1C"
"Usher syndrome, type 1D"
"Usher syndrome, type 1F"
"Usher syndrome, type 2C"
Tetra-amelia autosomal recessive
Tetraamelia multiple malformations
6 alpha mercaptopurine sensitivity
"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS"
Vacuolar myopathy
"Craniometaphyseal dysplasia, autosomal recessive type"
Bone Marrow failure syndromes
Potocki-Lupski syndrome
"Alport syndrome, dominant type"
"Alport syndrome, recessive type"
Alzheimer disease type 1
"Amaurosis congenita of Leber, type 1"
Familial cerebral cavernous malformation
Scapuloperoneal myopathy
Spastic paraplegia 17
Pena Shokeir syndrome Type 2
Phosphoenolpyruvate carboxykinase 2 deficiency
Perniola Krajewska Carnevale syndrome
Warburton Anyane Yeboa syndrome
"Welander distal myopathy, Swedish type"
Yorifuji Okuno syndrome
Yusho Disease
ZAP70 deficiency
Primary syphilis
T cell immunodeficiency primary
T-Lymphocytopenia
"Chromosome 3, monosomy 3p25"
Familial myelofibrosis
Familial renal cell carcinoma
"Spastic paraplegia 3, autosomal dominant"
"Spastic paraplegia type 5A, recessive"
"Muscular atrophy, spinal, infantile chronic form"
Thrombocytopenia Robin sequence
"Thyroid cancer, follicular"
Temporomandibular ankylosis
Neonatal Torulopsis glabrata Fungemia
Chromosomal mosaicism due to mitotic instability
Moyamoya disease 1
"Leber congenital amaurosis, type 4"
"Bulbospinal neuronopathy, X-linked recessive"
Long QT syndrome type 3
Albright's hereditary osteodystrophy
Bare lymphocyte syndrome 2
Orofaciodigital syndrome type1
"Hypodontia, X-linked"
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
Paraquat lung
"Hereditary spastic paralysis, infantile onset ascending"
"Prosopagnosia, hereditary"
"Prostate cancer, familial"
Lynch syndrome I (site-specific colonic cancer)
Forney Robinson Pascoe syndrome
"Neurofibromatosis, Type 3, mixed central and peripheral"
Neurofibromatosis-Noonan syndrome
Zlotogora-Ogur syndrome
"Mental Retardation, X-Linked 1"
Microphthalmia and mental deficiency
Microphthalmia associated with colobomatous cyst
Mixed sclerosing bone dystrophy
Sternal cleft
Plasmacytoma anaplastic
Plexosarcoma
Sclerosing lymphocytic lobulitis
Methylmalonyl-Coenzyme A mutase deficiency
Chromosome 4q- Syndrome
"Chromosome 5, monosomy 5q35"
Basaran Yilmaz syndrome
Gaucher-like disease
GEMSS syndrome
Juvenile systemic scleroderma
Oculocutaneous albinism type 3
Gestational trophoblastic disease
"Chromosome 7, trisomy mosaic"
"Chromosome 8, monosomy 8p23 1"
Macrophagic myofasciitis
O'Donnell Pappas syndrome
"Ochronosis, hereditary"
"Larsen syndrome, dominant type"
"Larsen syndrome, recessive type"
Petty Laxova Wiedemann syndrome
Phacomatosis pigmentokeratotica
Baraitser Brett Piesowicz syndrome
"Cerebral hemorrhage with amyloidosis, hereditary, Dutch type"
"Ceroid lipofuscinosis, neuronal 1, infantile"
"Charcot-Marie-Tooth disease, Type 1E"
Dysferlinopathy
Dystrophia myotonica 2
"Chromosome 15, trisomy mosaicism"
Chromosome 17 deletion
"Deafness, autosomal dominant nonsyndromic sensorineural 17"
Distal Trisomy 10q Syndrome
Familial Paget's disease of bone
Epidermolytic palmoplantar keratoderma Vorner type
Lactate dehydrogenase deficiency type A
Sulfocysteinuria
"Achromatopsia incomplete, X-linked"
Acquired amegakaryocytic thrombocytopenia
Acquired angioedema
"Acrocallosal syndrome, Schinzel type"
"Deafness, autosomal dominant nonsyndromic sensorineural 22"
Congenital defect of skull and scalp
Adenosine monophosphate deaminase deficiency
Adrenal hyperplasia 2
Amelogenesis imperfecta nephrocalcinosis
Amyloid angiopathy
"Amyotrophic lateral sclerosis, type 6"
Intracardiac myxoma
Atypical Hemolytic Uremic Syndrome
Deletion 11p13
"Chromosome 2, monosomy 2q24"
Chromosome 2q37 deletion syndrome
"Inclusion body myopathy, autosomal dominant"
Nakamura Osame syndrome
Nasopharyngeal carcinoma
Potassium aggravated myotonia
RDS - infants
Restless legs syndrome 2
"Hyperinsulinemic hypoglycemia, familial, 1"
"Hyperinsulinemic hypoglycemia, familial, 2"
Hyperprolinemia type 2
Familial hypertryptophanemia
Familial HDL deficiency
Aspartylglucosamidase (AGA) deficiency
Spinal muscular atrophy 4
Neurodegeneration with brain iron accumulation (NBIA)
Type I familial incomplete male pseudohermaphroditism
Aase Smith syndrome 2
Clear-cell metastatic renal cell carcinoma
Allergic Bronchopulmonary Mycosis
Double cortex
Acquired CJD
Monosomy 5p
Hemorrhagic hereditary nephritis
Familial hyperchylomicronemia syndrome
Dandy Walker cyst
Catalase deficiency
Familial schizencephaly
Free sialic acid storage disease
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
"Reticuloendotheliosis, familial, with eosinophilia"
Familial progressive supranuclear palsy
Pfeiffer type acrocephalosyndactyly
"Oral-facial-digital syndrome, type 2"
"Necrotizing encephalopathy, infantile subacute, of Leigh"
Lysosomal beta-mannosidase deficiency
Mucolipidosis 2
Pericardial constriction with growth failure
"Papillary renal cell carcinoma, familial"
Hyperkeratosis of the palms and soles and esophageal papillomas
Mitochondrial cytopathy
Gestational Diabetes Insipidus
Idiopathic Juxtafoveal Retinal Telangiectasia
Inherited Peripheral Neuropathy
Pontocerebellar Hypoplasia Type 2
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1C
Patent Ductus Arteriosus Familial
Familial Ebstein's Anomaly
"Obesity, Visceral"
Peri-Implantitis
Incisor Protrusion
Digital Dermatitis
Sarcoglycanopathies
Alpha-Sarcoglycanopathies
22q11 Deletion Syndrome
"Plaque, Amyloid"
"Plaque, Atherosclerotic"
Fibroatheroma
Neointima
Neointima Formation
"46, XX Disorders of Sex Development"
alpha-Dystroglycanopathies
"46, XX Testicular Disorders of Sex Development"
"46, XX Gonadal Sex Reversal"
Sex Chromosome Disorders of Sex Development
Echogenic Bowel
Pyogenic Sacroiliitis
Septic Sacroiliitis
Fasciculoventricular Accessory Pathway
Nodoventricular Accessory Pathway
Chronic Liver Failure
Familial CHARGE Syndrome
Acquired Hypogammaglobulinemia
"Immunoglobulin Deficiency, Late-Onset"
Swyer Syndrome
Intracavitary Tumors of the Heart
Fetal Cerebral Ventriculomegaly
Mechanical Allodynia
"Hyper-Immunoglobulin E Syndrome, Autosomal Dominant"
Familial Waldenstrom's Macroglobulinaemia
Nevo syndrome (disorder)
Hydroxymethylbilane Synthase Deficiency
Generalized Myotonia of Thomsen
"Colorectal cancer, hereditary nonpolyposis, type 1"
Aqueductal Stenosis
"Antley-Bixler Syndrome, Autosomal Dominant"
Spinocerebellar ataxia 30
"Acid cholesteryl ester hydrolase deficiency, type 2"
Congenital hypertrichosis
"Micromelic dysplasia, congenital, with dislocation of radius"
Fumaric aciduria
Focal facial dermal dysplasia
"Mycobacterium tuberculosis, susceptibility to infection by"
Keratosis of Greither
Scarring alopecia
Acatalasemia Japanese type
Acatalasemia Swiss type
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
"Spastic paraplegia 25, autosomal recessive"
Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 4 (disorder)
"SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT"
"SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)"
"Opitz GBBB Syndrome, X-Linked"
"Porphyria, South African type"
"Amylo-1,6-glucosidase deficiency"
Saccharopine dehydrogenase deficiency
Congenital abnormality of vein
Chronic ulcerative proctitis
Constitutional obesity
Biotin deficiency disease
Tunnel visual field constriction
"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT"
Congenital hereditary muscular dystrophy
Cerebral Hemorrhage
Old thrombus
Recurrent aphthous ulcer
Prostatic Hyperplasia
Nuclear opacity
Upper-airway cough syndrome
Tropical infectious disease
Central Nervous System Sensitization
Hyperintensity of cerebral white matter on MRI
Distributive shock
Oestrogen receptor positive breast cancer
Post stroke depression
Tumour rupture
Penile curvature
Focal cortical dysplasia
Skin sensitisation
Pulmonary sensitisation
Indolent ulcer
Amyloid of cornea
Medullary cystic disease
Meconium ileus
Disturbance in mood
Nuclear sclerosis
Phacodonesis
Secondary Neoplasm
Carcinoma in situ of bronchus
Right ventricular failure
Myeloid neoplasm
Immunoglobulin deposition disease
Deficiency of glucose-6-phosphate dehydrogenase
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3"
Thyroid Hormone Resistance Syndrome
"Attention deficit hyperactivity disorder, combined type"
Chronic mucus hypersecretion
Limb ischemia
panic symptoms
aggressive cancer
Childhood Malignant Liver Neoplasm
Urate nephropathy
headache severe
Nephronophthisis type 4
Folliculosebaceous cystic hamartoma
Tuberculous pleural effusion
Necrotizing lymphadenitis
Endometrial sarcoma
Cardiopulmonary Exercise Test
Low grade dysplastic nodule
High grade dysplastic nodule
Heart failure with normal ejection fraction
Vanishing white matter disease
Cranial fasciitis
Reactivation of hepatitis B viral hepatitis
Invasive pituitary adenoma
Calcification of muscle
Cancer and Pregnancy
Dentinogenesis imperfecta without osteogenesis imperfecta
Leukocytoclastic vasculitis
Pulmonary arterial hypertension
Coxiella burnetii Infection
Immune reconstitution inflammatory syndrome [IRIS]
Shell teeth
Glaucoma of childhood
"Refractory anemia, without ringed sideroblasts, without excess blasts"
Uranostaphyloschisis
Stage I Lung Cancer AJCC v6
Stage III Lung Cancer AJCC v6
Stage IV Lung Cancer AJCC v6
Ocular Adnexal Lymphoma
Stage II Nasopharyngeal Carcinoma AJCC v7
Stage IV Hypopharyngeal Carcinoma AJCC v7
Glioneuronal Tumor with Neuropil-Like Islands
Papillary glioneuronal tumor
Extraventricular neurocytoma
Papillary tumor of the pineal region
Anaplastic Medulloblastoma
Blood Protein Measurement
Fetal Alcohol Spectrum Disorders
Maternal Fever
Maternal Hypotension
Radiation-Related Sarcoma
Rhabdoid tumor predisposition syndrome
Bisphosphonate-associated osteonecrosis
Pituicytoma
Spindle Cell Oncocytoma of the Adenohypophysis
Cervical Intraepithelial Neoplasia Grade 2/3
Functioning Endocrine Neoplasm
Non-Functioning Endocrine Neoplasm
Diffuse Intrinsic Pontine Glioma
Multifocal breast carcinoma
Multicentric Breast Carcinoma
Early-Stage Breast Carcinoma
Stage IIIA Adult Liver Cancer AJCC v7
Stage IIIB Adult Liver Cancer AJCC v7
Stage IV Adult Liver Cancer AJCC v7
Locally Recurrent Malignant Neoplasm
Inherited bone marrow failure syndrome
Overgrowth Syndrome
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Intramucosal Adenocarcinoma
Digestive System Neuroendocrine Carcinoma
Gastrointestinal Mixed Adenoneuroendocrine Carcinoma
Pancreatic Intraepithelial Neoplasia-1A
Pancreatic Intraepithelial Neoplasia-1B
Pancreatic Intraepithelial Neoplasia-3
Pancreatic Intraductal Neoplasms
"Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type"
"Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type"
Esophageal Spindle Cell Carcinoma
Esophageal Neuroendocrine Carcinoma
Gastric Hepatoid Adenocarcinoma
Gastric Carcinoma with Lymphoid Stroma
Gastric Choriocarcinoma
Erythrodysplasia
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Alcohol Related Birth Defect
Stage IV Renal Cell Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7
Stage IV Colorectal Cancer AJCC v7
Stage II Colorectal Cancer AJCC v7
Stage III Rectal Cancer AJCC v7
Stage III Colon Cancer AJCC v7
Stage IV Rectal Cancer AJCC v7
Stage II Rectal Cancer AJCC v7
Stage II Colon Cancer AJCC v7
Stage I Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7
Prostate cancer stage D
Stage III Breast Cancer AJCC v7
"DEAFNESS, AUTOSOMAL RECESSIVE 76"
Increased urinary thiosulfate
"DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E"
"WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS"
Childhood-onset short-trunk short stature
"ALCOHOL DEPENDENCE, SUSCEPTIBILITY TO"
"FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED"
"USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC"
"IMINOGLYCINURIA, DIGENIC"
"DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY"
"SEIZURES, BENIGN FAMILIAL NEONATAL, 1"
"SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA"
Decreased activity of mitochondrial complex III
"GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE"
"SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES"
Aplasia of the abdominal wall musculature
"ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO"
Parotid oncocytoma
Neural tissue tumors
"CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB"
"IMMUNODEFICIENCY, COMMON VARIABLE, 1"
"DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED"
HYPERALPHALIPOPROTEINEMIA 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
KELOID FORMATION
"LARYNGOSPASM, SEVERE NEONATAL EPISODIC"
"MELORHEOSTOSIS, ISOLATED"
"CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO"
Melorheostosis with Osteopoikilosis
"CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO"
"PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO"
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
POLYCYSTIC KIDNEY DISEASE 1
"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13"
Neonatal short-trunk short stature
"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL"
Mild short stature
Aplasia/Hypoplasia of the nipples
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
BARDET-BIEDL SYNDROME 15
"CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB"
"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED"
"FTLD-TDP, TARDBP-RELATED"
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
"AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE"
RETINITIS PIGMENTOSA 53
CHROMOSOME 6q24-q25 DELETION SYNDROME
COMPLEMENT COMPONENT 2 DEFICIENCY
"AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT"
"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY"
"HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED"
Ventral septal defect (VSD)
"IMMUNODEFICIENCY, COMMON VARIABLE, 2"
Increased serum prostaglandin E2
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2"
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 2"
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 3"
"MONONEUROPATHY OF THE MEDIAN NERVE, MILD"
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
Long toe
"Maturity-onset diabetes of the young, type 10"
"Maturity-onset diabetes of the young, type 11"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC"
Distal upper limb muscle weakness
"BRACHYDACTYLY, TYPE E2"
"AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM"
"FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2"
FANCONI RENOTUBULAR SYNDROME 2
"FANCONI ANEMIA, COMPLEMENTATION GROUP O"
"DEAFNESS, AUTOSOMAL RECESSIVE 84A"
BIRBECK GRANULE DEFICIENCY
WARSAW BREAKAGE SYNDROME
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3"
"MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY"
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2"
"AUTISM, SUSCEPTIBILITY TO, 16"
OGUCHI DISEASE 2
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
"CARDIOMYOPATHY, DILATED, 1R"
LEFT VENTRICULAR NONCOMPACTION 4
LEFT VENTRICULAR NONCOMPACTION 5
RETINITIS PIGMENTOSA 54
AMYOTROPHIC LATERAL SCLEROSIS 12
"AUTISM, SUSCEPTIBILITY TO, 17"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 20"
"CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
FRONTONASAL DYSPLASIA 2
"DEAFNESS, AUTOSOMAL RECESSIVE 91"
FOXG1 syndrome
FRONTONASAL DYSPLASIA 3
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
RETINITIS PIGMENTOSA 51
"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5"
LONG QT SYNDROME 13
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj"
Antibody Deficiency due to Defect in CD19
"IMMUNODEFICIENCY, COMMON VARIABLE, 4"
"IMMUNODEFICIENCY, COMMON VARIABLE, 5"
"IMMUNODEFICIENCY, COMMON VARIABLE, 6"
"AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE"
"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE"
"AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE"
"AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT"
GLYCOGEN STORAGE DISEASE XV
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
"MICROPHTHALMIA, ISOLATED 6"
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
NEPHRONOPHTHISIS 11
"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2"
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 57
OCCULT MACULAR DYSTROPHY
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3"
"HEMOCHROMATOSIS, JUVENILE, DIGENIC"
CRANIOECTODERMAL DYSPLASIA 2
CHOANAL ATRESIA AND LYMPHEDEMA
COG5 congenital disorder of glycosylation
SENIOR-LOKEN SYNDROME 7
Primary hyperoxaluria type III
RETINITIS PIGMENTOSA 58
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2"
COCOON SYNDROME
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC"
"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B"
"CARDIOMYOPATHY, DILATED, 1GG"
"PARKINSON DISEASE 5, AUTOSOMAL DOMINANT"
"METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT"
"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE"
C1q DEFICIENCY
"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13"
D-2-HYDROXYGLUTARIC ACIDURIA 2
Brain calcification Rajab type
"GASTRIC CANCER, INTESTINAL"
CONE-ROD DYSTROPHY 15
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip"
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY"
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
"MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS"
"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE"
Congenital dyserythropoietic anemia type IV
VESICOURETERAL REFLUX 3
NF1 Microdeletion Syndrome
Steep acetabular roof
"HYPERALDOSTERONISM, FAMILIAL, TYPE III"
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RUBINSTEIN-TAYBI SYNDROME 2
"SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE"
Long Qt Syndrome 2
Long Qt Syndrome 6
"LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO"
"Cardiomyopathy, Dilated, 1V"
Supernumerary der(22)t(8;22) syndrome
"KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6"
"MICROPHTHALMIA, ISOLATED 7"
NOONAN SYNDROME 7
LEOPARD SYNDROME 3
"NEUROPATHY, HEREDITARY SENSORY, TYPE ID"
Progressive polyneuropathy with bilateral striatal necrosis
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3"
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4"
TREACHER COLLINS SYNDROME 2
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q"
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10"
"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS"
Retinitis Pigmentosa 4
CHROMOSOME 1p32-p31 DELETION SYNDROME
"ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE"
"ACNE INVERSA, FAMILIAL, 3"
"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE"
"SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE"
"HETEROTAXY, VISCERAL, 4, AUTOSOMAL"
S-adenosylhomocysteine hydrolase deficiency
RETINITIS PIGMENTOSA 49
"Macular Degeneration, Age-Related, 6"
RETINITIS PIGMENTOSA 47
"INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS"
"MACULAR DEGENERATION, AGE-RELATED, 5"
"46,XY SEX REVERSAL 6"
"Cataract, Posterior Polar, 2"
RETINITIS PIGMENTOSA 45
RETINITIS PIGMENTOSA 44
"MACULAR DEGENERATION, AGE-RELATED, 8"
"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE"
"AORTIC ANEURYSM, FAMILIAL THORACIC 7"
Complement Component C1s Deficiency
"MACULAR DEGENERATION, AGE-RELATED, 12"
"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II"
"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I"
C8 deficiency
Recurrent Neisserial infections
MASP2 Deficiency
Retinitis Pigmentosa 20
LOEYS-DIETZ SYNDROME 3
IMMUNODEFICIENCY 31B
MEIER-GORLIN SYNDROME 2
RETINITIS PIGMENTOSA 40 (disorder)
Abnormal light- and dark-adapted electroretinogram
MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 5
"CILIARY DYSKINESIA, PRIMARY, 14"
"CILIARY DYSKINESIA, PRIMARY, 15"
RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 43
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2D"
"Bile Acid Synthesis Defect, Congenital, 3"
"ADENOMA, CORTISOL-PRODUCING"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9"
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
NEPHRONOPHTHISIS 12
SECKEL SYNDROME 5
NEPHRONOPHTHISIS 9
C9 Deficiency
RETINITIS PIGMENTOSA 48
LEBER CONGENITAL AMAUROSIS 7
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D"
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
LEBER CONGENITAL AMAUROSIS 8
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16"
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
LEBER CONGENITAL AMAUROSIS 15
"Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome"
"OSTEOGENESIS IMPERFECTA, TYPE X"
"OSTEOGENESIS IMPERFECTA, TYPE XI"
"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6"
FICOLIN 3 DEFICIENCY
RETINITIS PIGMENTOSA 59
RETINITIS PIGMENTOSA 38 (disorder)
"FEBRILE SEIZURES, FAMILIAL, 3B"
"DEAFNESS, AUTOSOMAL RECESSIVE 61"
"MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED"
"Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4"
"CARDIOMYOPATHY, DILATED, 1HH"
"HYPOMAGNESEMIA 6, RENAL"
Chromosome 13q14 deletion syndrome
"Obesity, Hyperphagia, and Developmental Delay"
CATARACT 36
SPINOCEREBELLAR ATAXIA 32
"DEAFNESS, AUTOSOMAL RECESSIVE 89"
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION"
OKT4 EPITOPE DEFICIENCY
SCHIZOPHRENIA 15
"CANDIDIASIS, FAMILIAL, 5"
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2"
"CANDIDIASIS, FAMILIAL, 6"
SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 9
"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 6"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6"
"CYANOSIS, TRANSIENT NEONATAL"
"ATRIAL FIBRILLATION, FAMILIAL, 9"
HYPOTRICHOSIS 3
"OSTEOGENESIS IMPERFECTA, TYPE XII"
RETINITIS PIGMENTOSA 60
"PITUITARY HORMONE DEFICIENCY, COMBINED, 6"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3"
Nestor Guillermo progeria syndrome
"CILIARY DYSKINESIA, PRIMARY, 16"
LISSENCEPHALY 4
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14"
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3"
"ATRIAL FIBRILLATION, FAMILIAL, 10"
PROTEIN Z DEFICIENCY
HEPATIC LIPASE DEFICIENCY (disorder)
Apolipoprotein C-III Deficiency
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
"AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED"
"AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED"
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
"HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING"
Long upper lip
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3"
Early severe fetal akinesia sequence
Abnormal cervical curvature
Hypoplastic heart
Abnormal iron deposition in mitochondria
"NEPHROTIC SYNDROME, TYPE 4"
"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS"
"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY"
ANTERIOR SEGMENT DYSGENESIS 7
"ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION"
"Seizures in the newborn, refractory"
"NYSTAGMUS 6, CONGENITAL, X-LINKED"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
CK syndrome
"46,XX SEX REVERSAL 3"
"MACULAR DEGENERATION, X-LINKED ATROPHIC"
"MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM"
"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED"
"DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL"
"MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT"
3-Methylglutaric aciduria
MERRF/MELAS OVERLAP SYNDROME
"DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES"
D-2-HYDROXYGLUTARIC ACIDURIA 1
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY"
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
"USH1D/F, CDH23/PCDH15, DIGENIC"
LEFT VENTRICULAR NONCOMPACTION 3
"AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE"
Anterior chamber anomalies
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8"
Gastrointestinal infarctions
response to SSRI
BORNHOLM EYE DISEASE
"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE"
"Palpitations, CTCAE"
"PARKINSON DISEASE, LATE-ONSET"
"Cardiomyopathy, Dilated, 1u"
Pulmonary function (finding)
THROMBOPHILIA DUE TO THROMBIN DEFECT
"FANCONI ANEMIA, COMPLEMENTATION GROUP D2"
"FANCONI ANEMIA, COMPLEMENTATION GROUP E"
Acquired cystic kidney disease
Diabetic dyslipidaemia
Lamellar macular hole
Cannabis use
Intraductal papillary mucinous neoplasm
Viral uveitis
Urogenital atrophy
Prostatic dysplasia
Plasminogen activator inhibitor polymorphism
PAI-1 polymorphism
PAI-1 4G/5G polymorphism
Perinatal HIV infection
Small intestinal bacterial overgrowth
Posterior reversible encephalopathy syndrome
Transitional cell carcinoma metastatic
Non ST segment elevation acute coronary syndrome
Node-positive breast cancer
Metastatic gastric adenocarcinoma
Node-negative breast cancer
Hormone-dependent prostate cancer
Uncomplicated infection
Opioid-Induced Constipation
Behcet's uveitis
Subependymal nodular heterotopia
Autoimmune arthritis
Corneal thickening
Bladder pain syndrome
Ventricular dyssynchrony
Hepatitis flare
Left ventricular dyssynchrony
Neuroendocrine cell hyperplasia of infancy
Pulmonary interstitial glycogenosis
Hemoglobin H Constant Spring
Hemoglobin H Disease
Hydrops fetalis due to alpha thalassemia
Autoimmune hemophilia
Vitreomacular traction
Tuberculin (skin test) positive
Pilar and trichilemmal cysts
Profound intellectual disabilities
Dominant thalassemia
Primary immunoglobulin A nephropathy (disorder)
Papillary Meningioma
Functionless pituitary neoplasm
Squamous epithelial hyperplasia
Recurrent lower respiratory tract infection
Abnormality of aortic arch
Malignant epithelial neoplasm of lung
Chondrosarcoma of bone
Tumor thrombus
Malignant epithelial neoplasm of thyroid
Combined large cell neuroendocrine carcinoma
Dysplastic nodule
Sepsis due to Salmonella
Endocervical adenocarcinoma in situ
Sarcoma of mesentery
Adult onset autosomal dominant leukodystrophy
Abnormality of pulmonary valve
Oligoasthenozoospermia
Indeterminate atrial arrangement
Abnormality of aortic valve
Clinical sepsis
Palisaded myofibroblastoma
May-Thurner Syndrome
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
Infiltrating duct carcinoma of female breast
High density lipoprotein deficiency
Primary malignant neoplasm of lateral wall of oropharynx
Nociceptive Pain
Bisphosphonate-Associated Osteonecrosis of the Jaw
Aortic Stiffness
Widespread Chronic Pain
"Stroke, Lacunar"
Social Anhedonia
Physical Anhedonia
Heterotaxy Syndrome
Right Atrial Isomerism
Left Atrial Isomerism
"Paraneoplastic Syndromes, Ocular"
Pelvic Floor Disorders
Subcutaneous Phaeohyphomycosis
Disseminated Fusariosis
Developmental Coxa Vara
Corpus Callosum Malformation
GALNS Deficiency
Osteopetrosis Autosomal Dominant Type 2
Pseudo Pelger-Huet Anomaly
Gastrointestinal Stromal Sarcoma
"Glanzmann Thrombasthenia, Type A"
"Niemann-Pick Disease, Type C1"
Linear Verrucous Epidermal Nevus
Aplasia/Hypoplasia of the thumb
Congenital Deficiency of Pulmonary Surfactant Protein B
Idiopathic pulmonary arterial hypertension
Factor II deficiency
Bone Tuberculosis
Hypoventilation
Acute enterocolitis
Pulmonary chondroma
Hypoactive delirium
Hyperactive delirium
Mixed delirium
Neuropsychiatric syndrome
Acute repetitive seizure
Psychological Trauma
Chronic hyperplastic eosinophilic sinusitis
Axial spondyloarthritis
Epstein-Barr virus associated lymphoma
Crystal nephropathy
"Neuroendocrine carcinoma, metastatic"
IgG4-Related Sclerosing Disease
Autoimmune aplastic anaemia
Autoimmune retinopathy
NAT2 polymorphism
CYP2D6 polymorphism
CYP2C19 polymorphism
Infectious pleural effusion
Precordial Catch Syndrome
Fowler syndrome
Erythema Multiforme Major
Nonalcoholic Steatohepatitis
Roux-en-y Anastomosis Site
Myocardial Disorder
Familial renal glucosuria
Laryngopharyngeal Cancer
Combat Fatigue
Infection - suppurative
MYOTONIC DYSTROPHY 1
Condylomatous carcinoma
Dextrotransposition of aorta
Non-advanced adenomas
Valvular disease
Primary acquired melanosis
Refractory juvenile myoclonic epilepsy
"Ocular hypertension, bilateral"
Swine influenza virus (viruses that normally cause infections in pigs)
Buried penis
Agoraphobia without panic disorder
Mixed astigmatism
Pigmented actinic keratosis
Botryoid odontogenic cyst
Orofacial cleft
22q11 partial monosomy syndrome
Steroid resistant nephrotic syndrome of childhood
Serrated polyp
Functional abdominal pain syndrome
Dropped head syndrome
Multiple Chronic Conditions
Recurrent optic neuritis
Persistent asthma
2-methyl-3-hydroxybutyric aciduria
Severe left ventricular systolic dysfunction
"47, XYY syndrome"
"Atypical Mycobacteriosis, Familial"
Waardenburg Syndrome
Acute focal bacterial nephritis
Vascular endothelial growth factor overexpression
Hypercalcitoninaemia
Digital ulcer
Autoimmune necrotizing myopathy
Oesophageal fibrosis
Autoinflammatory disease
Familial scaphocephaly syndrome
Trichodysplasia spinulosa
Psychogenic movement disorder
Axial myopathy
Fetal thrombotic vasculopathy
Three Vessel Coronary Disease
Coronary Venous Dissection
Gastric Neuroendocrine Tumor
Gastric Neuroendocrine Carcinoma
Gastric Schwannoma
Gastric Plexiform Fibromyxoma
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
Small Intestinal Neuroendocrine Tumor
Intestinal Neuroendocrine Tumor
Intestinal Neuroendocrine Carcinoma
Small Intestinal Neuroendocrine Carcinoma
Colorectal Neuroendocrine Carcinoma
Colorectal Large Cell Neuroendocrine Carcinoma
Brain Development Abnormality
Filiform Serrated Adenoma
Colon Serrated Polyposis
Hamartomatous polyposis
Rectal Tubular Adenoma
Colorectal Adenomatous Polyp
Colorectal Serrated Adenocarcinoma
Ulcerative Colitis-Associated Colorectal Adenocarcinoma
Colorectal Lymphoma
Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma
MUTYH-Associate Polyposis
Fibroblast Growth Factor 23 Measurement
Beta-Catenin-Activated Hepatocellular Adenoma
Inflammatory Hepatocellular Adenoma
High Grade Liver Dysplastic Nodule
Early Hepatocellular Carcinoma
Primary hepatic neuroendocrine carcinoma
Lymphoepithelioma-Like Hepatocellular Carcinoma
Well Differentiated Hepatocellular Carcinoma
Moderately Differentiated Hepatocellular Carcinoma
Poorly Differentiated Hepatocellular Carcinoma
Hereditary Neurodegenerative Disorder
Proliferative Inflammatory Atrophy
Sclerosing Polycystic Adenosis
Arterionephrosclerosis
Sickle Beta 0 Thalassemia
Opiate Withdrawal Syndrome
Severe Bronchopulmonary Dysplasia
Single Ventricle Defect
Surfactant Protein C Deficiency
Lipofibromatosis
Neonatal Opiate Withdrawal Syndrome
Contralateral Breast Carcinoma
Chronic Total Occlusion Vessel
One Vessel Coronary Disease
Biliary System Disorder
Impaired tandem gait
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE"
"MENTAL RETARDATION, X-LINKED 96"
Ragged-red muscle fibers
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 5"
"MENTAL RETARDATION, X-LINKED 90 (disorder)"
"MENTAL RETARDATION, X-LINKED 88 (disorder)"
"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"
Ogden syndrome
Cutaneous capillary malformation
"AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE"
"CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA"
"X-linked cerebral, cerebellar, coloboma syndrome"
KABUKI SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 16"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1"
"CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY"
ATRIOVENTRICULAR SEPTAL DEFECT 3
Choriocapillaris atrophy
Spondylolisthesis at L5-S1
"USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC"
"RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO"
Hyperechogenic kidneys
Superior semicircular canal dehiscence syndrome
"LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO"
Abnormal iris vasculature
THROMBOCYTHEMIA 2
Hypoplastic areola
High anterior hairline
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2"
"MALE GERM CELL TUMOR, SOMATIC"
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
"LONG QT SYNDROME 2/3, DIGENIC"
"LONG QT SYNDROME 3/6, DIGENIC Disorder"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1"
Fifth metacarpal with ulnar notch
"USHER SYNDROME, TYPE ID/F, DIGENIC"
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
"CUTIS LAXA, AUTOSOMAL DOMINANT 1"
"OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY"
"DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH"
Absent or delayed speech development
Toenail dysplasia
Small Fiber Neuropathy
Fibular duplication
Absent tibia
Stiff skin
Thin glomerular basement membrane
Horizontal eyebrow
Congenital Bilateral Cataracts
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT"
Relatively short spine
Long coccyx
Caudal appendage
Halberd-shaped pelvis
Hyperplasia of the femoral trochanters
Dumbbell-shaped metaphyses
Absent primary metaphyseal spongiosa
Abnormal metaphyseal vascular invasion
Decreased patellar reflex
Type 2 muscle fiber predominance
"THROMBOCYTHEMIA 2, SOMATIC"
Restrictive ventilatory defect
"HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO"
Multiple mitochondrial DNA deletions
Gastrointestinal hamartomatous polyps
Lack of facial subcutaneous fat
THROMBOCYTHEMIA 1
"EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC"
Central nervous system degeneration
Progressive forgetfulness
Punctate vasculitis skin lesions
"LONG QT SYNDROME 1/2, DIGENIC (disorder)"
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
JOUBERT SYNDROME 12
Absent middle phalanx of 5th finger
Deep-set nails
"17,20-Lyase Deficiency, Isolated"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4"
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
Generalized hypertrichosis
Atretic gallbladder
Enlarged cerebellum
Severe hydrocephalus
FIBROCHONDROGENESIS 1
GELEOPHYSIC DYSPLASIA 1
"BERNARD-SOULIER SYNDROME, TYPE A1"
"GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET"
GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIB
GLUTARIC ACIDEMIA IIC
Dysmyelinating leukodystrophy
"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT"
Red cell adenylate kinase deficiency
Diffuse glomerular basement membrane lamellation
Cerebellar dysplasia
HEMOGLOBIN H HYDROPS FETALIS SYNDROME
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
Hypopigmentation of hair
"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS"
Bilateral elbow dislocations
"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1"
Spinal fusion
Orotic acid crystalluria
Neonatal insulin-dependent diabetes mellitus
Linear hyperpigmentation
"LIVER FAILURE, INFANTILE, TRANSIENT"
Thumb aplasia
Pigment gallstones
Dilated ventricles (finding)
Axonal polyneuropathy
Attenuation of retinal blood vessels
Unilateral vertebral artery hypoplasia
"LONG QT SYNDROME 2/9, DIGENIC"
Functional hyposplenism
Arterial tortuosity
Aplasia/Hypoplasia of the cerebellum
Progressive flexion contractures
Impaired gluconeogenesis
Microphthalmia (in some patients)
"PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF"
Very long chain fatty acid accumulation
Hypoplasia of the abdominal wall musculature
Distal ileal atresia
Prominent incisors
Recurrent spontaneous abortion
HYPOTRICHOSIS 8
Hypergranulosis
Cryptozoospermia
"HEMOGLOBIN H DISEASE, NONDELETIONAL"
"Osteogenesis Imperfecta, Type VI"
Ectopic posterior pituitary
Reticulated skin pigmentation
"BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO"
"EPILEPSY, PROGRESSIVE MYOCLONIC, 6"
Glyoxalase deficiency
"DEAFNESS, AUTOSOMAL RECESSIVE 29"
alpha-2-Macroglobulin Deficiency
Leukotriene C4 Synthase Deficiency
Emberger Syndrome
Frontoparietal polymicrogyria
Perisylvian polymicrogyria
MOYAMOYA DISEASE 5
"ATRIAL FIBRILLATION, FAMILIAL, 11"
"ATRIAL FIBRILLATION, FAMILIAL, 12"
"Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3"
N-ACETYLASPARTATE DEFICIENCY
"MYOPATHY, DISTAL, 4"
Hip flexor weakness
"SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE"
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
"PSORIASIS 13, SUSCEPTIBILITY TO"
HERMANSKY-PUDLAK SYNDROME 7
"CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE"
"ASPERGILLOSIS, SUSCEPTIBILITY TO"
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
ANHAPTOGLOBINEMIA
Atrial Septal Defect 3
"SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO"
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
KEPPEN-LUBINSKY SYNDROME
CRANIOECTODERMAL DYSPLASIA 3
Kappa-Chain Deficiency
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 7"
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Pyruvate Dehydrogenase E1-Beta Deficiency
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
"CORTICAL MALFORMATIONS, OCCIPITAL"
Hereditary Sensory and Autonomic Neuropathy Type Ie
Frontal lobe atrophy
Hydrolethalus Syndrome 2
CHITOTRIOSIDASE DEFICIENCY
Lactate Dehydrogenase B Deficiency
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
"STICKLER SYNDROME, TYPE IV"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9"
"DEAFNESS, AUTOSOMAL DOMINANT 64"
Hyperbiliverdinemia
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10"
Decreased serum thromboxane B2
"CANDIDIASIS, FAMILIAL, 7"
"DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO"
PARAGANGLIOMAS 5
"MYOPIA 21, AUTOSOMAL DOMINANT"
BRITTLE CORNEA SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 9
GATA2 Deficiency
JOUBERT SYNDROME 13
"MECKEL SYNDROME, TYPE 10"
RETINITIS PIGMENTOSA 61
RETINITIS PIGMENTOSA 62
GELEOPHYSIC DYSPLASIA 2
LEBER CONGENITAL AMAUROSIS 16
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3"
"MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME"
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
"NEPHROTIC SYNDROME, TYPE 6"
Podocyte foot process effacement
"MYASTHENIC SYNDROME, CONGENITAL, 16"
"NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES"
Glycoprotein IA Deficiency
Glycoprotein VI deficiency
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15"
Long eyebrows
PARKINSON DISEASE 17
THREE M SYNDROME 3
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16"
"MECKEL SYNDROME, TYPE 9"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4"
"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC"
ADAMS-OLIVER SYNDROME 2
WARBURG MICRO SYNDROME 3
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
WARBURG MICRO SYNDROME 2
HOLOPROSENCEPHALY 11
"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11"
"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18"
NARCOLEPSY 7
PARKINSON DISEASE 18
"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 9"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 10"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 11"
Microcephaly-capillary malformation syndrome
Abnormal hair whorl
"ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY"
Combined Malonic and Methylmalonic Aciduria
Platelet-Activating Factor Acetylhydrolase Deficiency
"STICKLER SYNDROME, TYPE V"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4"
"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION"
Peripheral vitreoretinal degeneration
"HYDATIDIFORM MOLE, RECURRENT, 2"
"Wolfram-Like Syndrome, Autosomal Dominant"
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
EDICT syndrome
SCLEROSTEOSIS 2
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Alpha-Methylacyl-CoA Racemase Deficiency
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 4"
"MYOPATHY, DISTAL, TATEYAMA TYPE"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12"
OVARIAN DYSGENESIS 3
PITT-HOPKINS-LIKE SYNDROME 2
FEINGOLD SYNDROME 2
TUMOR PREDISPOSITION SYNDROME
"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29"
"ARTHROGRYPOSIS, DISTAL, TYPE 1B"
PANCREATIC LIPASE DEFICIENCY
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28"
"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5"
Mannose-Binding Protein Deficiency
"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE"
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
NEPHRONOPHTHISIS 13
CRANIOECTODERMAL DYSPLASIA 4
Nephronophthisis-like nephropathy
Decreased serum complement C4b
Complement Component 4a Deficiency
"LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM"
"BACTEREMIA, SUSCEPTIBILITY TO, 2"
"ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3"
"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET"
"ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO"
"MYOPATHY, CENTRONUCLEAR, 3"
Upper limb dysmetria
GLYCEROL QUANTITATIVE TRAIT LOCUS
CHILBLAIN LUPUS 2
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
"EPILEPSY, FAMILIAL TEMPORAL LOBE, 5"
"FEBRILE SEIZURES, FAMILIAL, 11"
SYSTEMIC LUPUS ERYTHEMATOSUS 16
JOUBERT SYNDROME 14
Abnormality of the posterior cranial fossa
VENTRICULAR SEPTAL DEFECT 1
ATRIOVENTRICULAR SEPTAL DEFECT 4
VENTRICULAR SEPTAL DEFECT 2
VENTRICULAR SEPTAL DEFECT 3
ATRIAL SEPTAL DEFECT 8
HYPOPLASTIC LEFT HEART SYNDROME 2
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB"
"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E"
"ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION"
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
"HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES"
JOUBERT SYNDROME 15
"JOUBERT SYNDROME 9/15, DIGENIC"
"JOUBERT SYNDROME 12/15, DIGENIC"
JOUBERT SYNDROME 16
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
ATRIOVENTRICULAR SEPTAL DEFECT 5
Unbalanced atrioventricular canal defect
ATRIAL SEPTAL DEFECT 9
"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE"
"CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION"
PORENCEPHALY 2
TRIGONOCEPHALY 2
Thrombophilia due to Thrombomodulin Defect
"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE"
WISKOTT-ALDRICH SYNDROME 2
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7"
"RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL"
Multifocal seizures
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY"
CONE-ROD DYSTROPHY 16
RETINITIS PIGMENTOSA 64
"PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM"
Broad jaw
"USHER SYNDROME, TYPE IIIB"
Congenital disorder of glycosylation type 1r
MIRROR MOVEMENTS 2
"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE"
"HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO"
THROMBOCYTHEMIA 3
FIBROCHONDROGENESIS 2
CHROMOSOME 17q12 DELETION SYNDROME
"EFAVIRENZ, POOR METABOLISM OF"
"EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2"
SCN8A-related epilepsy with encephalopathy
INFANTILE CEREBELLAR-RETINAL DEGENERATION
"LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 12"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 13"
"CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E"
"CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
BARAITSER-WINTER SYNDROME 2
DYSTONIA 21
BENT BONE DYSPLASIA SYNDROME
PREECLAMPSIA/ECLAMPSIA 5
TRICHOHEPATOENTERIC SYNDROME 2
"DEAFNESS, AUTOSOMAL DOMINANT 4B"
"Sensorineural hearing loss, progressive bilateral postlingual"
Glandular papilloma
Metastatic Carcinoma in the Liver
MYELODYSPLASTIC SYNDROME
"HYDATIDIFORM MOLE, RECURRENT, 1"
Complement Factor I (C3 inactivator) deficiency
Corticosterone Methyl Oxidase Type II Deficiency
EMBRYONAL CELL CARCINOMA
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1"
"FANCONI ANEMIA, COMPLEMENTATION GROUP C"
Juvenile amyotrophic lateral sclerosis
"CARPAL TUNNEL SYNDROME, FAMILIAL"
familial atrial fibrillation
"HEMOCHROMATOSIS, TYPE 1"
"FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)"
"BREAST CANCER, SUSCEPTIBILITY TO"
"PROSTATE CANCER, SUSCEPTIBILITY TO"
"PANCREATIC CANCER, SUSCEPTIBILITY TO"
"FANCONI ANEMIA, COMPLEMENTATION GROUP F"
fanconi anemia complementation group g
"FANCONI ANEMIA, COMPLEMENTATION GROUP L"
"FANCONI ANEMIA, COMPLEMENTATION GROUP M"
"FANCONI ANEMIA, COMPLEMENTATION GROUP P"
"PSEUDOHYPOALDOSTERONISM, TYPE IID"
"PSEUDOHYPOALDOSTERONISM, TYPE IIE"
Severe dehydration
Severe major depression
Chronic hepatitis E
Micropapillary carcinoma
Plasmablastic lymphoma
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
Serrated adenocarcinoma
"B lymphoblastic leukemia lymphoma, no ICD-O subtype"
Primary adenocarcinoma of colon
Non-allergic rhinitis
Spinocerebellar ataxia 36
HERMANSKY-PUDLAK SYNDROME 4
Hiatal Hernia
"Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial"
"Hypogonadism, Isolated Hypogonadotropic"
"Neuroepithelioma, Peripheral"
"Lipomatosis, Multiple"
Hyperkalemic Periodic Paralysis Type 2
"Tooth Agenesis, Familial"
Cone-Rod Dystrophy 2
Familial Extrahepatic Biliary Atresia
Idiopathic Extrahepatic Biliary Atresia
Sexual Violence
"Stuttering, Familial Persistent 1"
"Thrombocytosis, Autosomal Dominant"
"Somatotrophinoma, Familial"
Vision Disability
Aicardi-Goutieres Syndrome 2
Pseudo-TORCH syndrome
Geleophysic dysplasia
Familial intrahepatic cholestasis of pregnancy
Familial mesangial sclerosis
Oculomotor apraxia
"Anti-plasmin deficiency, congenital"
Keratosis Palmaris et Plantaris Familiaris
"Pituitary Hormone Deficiency, Combined, 3"
"Cholestasis, Progressive Familial Intrahepatic, 2"
"Parkinson Disease, Familial, Type 1"
"46,XY Sex Reversal 3"
"Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant"
"Thyroid Hormone Resistance, Generalized, Autosomal Recessive"
Cold Hypersensitivity
"Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency"
Lentiginosis Profusa
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1"
"Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous"
Autosomal Hemophilia A
Factor VIII Deficiency
Organothiophosphonate Poisoning
Organothiophosphate Poisoning
Prodromal Symptoms
Prodromal States
Prodromal Period
Prodromal Stage
Dentofacial Deformities
Retrognathia
Maxillary Retroposition
Maxillary Retrusion
Mandibular Retroposition
Mandibular Retrusion
"Autoimmune polyendocrinopathy syndrome, type 1"
"Pseudohypoparathyroidism, Type Ia"
"Hypergonadotropic Ovarian Failure, X-Linked"
Asymptomatic carotid artery stenosis
Mild dementia
Severe dementia
Moderate dementia
"Early infantile epileptic encephalopathy, refractory"
Benign paroxysmal torticollis of infancy
Idiopathic urethral stricture
Migrating partial seizures in infancy
Bacteremia caused by Gram-negative bacteria
"Apraxia, Articulatory"
Dyslalia
"Gigantiform Cementoma, Familial"
Juvenile elastoma
Hemifacial microsomia
Chromosome 18q syndrome
Homocysteinemia
Fanconi-Bickel Syndrome
American cutaneous leishmaniasis
"Macular Degeneration, Age-Related, 2"
Inflammatory disorder of breast
Amish Brittle Hair Brain Syndrome
Axenfeld-Rieger syndrome
Rieger eye malformation sequence
"Cardiomyopathy, Familial Hypertrophic, 1 (disorder)"
Congenital alopecia X-linked
"Heterotaxy, Visceral, 5, Autosomal"
Patent ductus arteriosus - persisting type
Dihydropyrimidinuria
Cystathionase Deficiency
Homocarnosinase deficiency
Carnosinemia
Juvenile arthritis
Reflux nephropathy (disorder)
"Night Blindness, Congenital Stationary, Type 1A"
Acrocephalopolydactylous Dysplasia
Jalili syndrome
"Charcot-Marie-Tooth Disease, Demyelinating, Type 1e"
Anorectal Malformations
Spitzoid melanoma
Peripheral artery stenosis
Periodontal inflammation
Granulomatosis with polyangiitis
Fulminant type 1 diabetes mellitus
Aluminium overload
Pancreatic steatosis
Nonepileptic Seizures
ARIA-H
Osteochondral defects
Congenital thrombophilia
Delayed dark adaptation
Advanced breast cancer
Enthesitis-Related Arthritis
Thyroid associated orbitopathy
Vertebral body haemangioma
Locally advanced breast cancer
cocaine use
Atypical psychosis
"Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia"
Idiopathic Nephrotic Syndrome
Galectin-3 measurement
Male Germ Cell Tumor
"Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome"
"Deafness, Sensorineural, with Hypertrophic Cardiomyopathy"
"Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive"
"Mental Retardation, X-Linked Nonsyndromic"
"Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to"
Bleeding Disorder due to Defective Thromboxane A2 Receptor
"Microcephaly, Primary Autosomal Recessive, 2"
"alpha-1-Antitrypsin Deficiency, Autosomal Recessive"
Nonmedullary Thyroid Carcinoma
Familial Nonmedullary Thyroid Cancer
Noonan-Like Syndrome With Loose Anagen Hair
"Night blindness, congenital stationary, type 1"
"Nephrosis, congenital"
"Leukemia, Acute, X-Linked"
"Muscular Dystrophy, Limb-Girdle, Type 1D"
"Mitochondrial DNA Depletion Syndrome, Myopathic Form"
"Epiphyseal Dysplasia, Multiple, with Myopathy"
Cerebrocostomandibular-Like Syndrome
"Microcephaly with Chorioretinopathy, Autosomal Dominant"
"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive"
"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant"
"Leukodystrophy, Dysmyelinating, with Oligodontia"
"Woolly Hair, Autosomal Recessive"
Multiple Mitochondrial Dysfunctions Syndrome
"Dyskeratosis Congenita, Autosomal Recessive"
Breastfeeding Jaundice
"Homocystinuria, Pyridoxine-Responsive"
"Adrenal Insufficiency, Congenital"
"Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal"
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
"Lactic Acidosis, Fatal Infantile"
Atrial Septal Defect with Atrioventricular Conduction Defects
Amyotrophic Lateral Sclerosis 10
"Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia"
"Microcephaly with Chorioretinopathy, Autosomal Recessive"
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Chromosome 16p13.3 Deletion Syndrome
Generalized Epilepsy with Febrile Seizures Plus
Acquired C1 inhibitor deficiency
Chronic obstructive pulmonary disease exacerbation
Dextrotransposition of the great arteries
Fetal heart failure
Inflammatory cardiomyopathy
Valvular cardiomyopathy
Pacing-induced cardiomyopathy
Mitochondrial cardiomyopathy
Fatal infantile mitochondrial cardiomyopathy
Fetal cardiomyopathy
Fetal dilated cardiomyopathy
Usual ductal hyperplasia of breast
Parosteal lipoma
Moderate expressive language delay
Mild expressive language delay
Mixed dementia
Moderate receptive language delay
Severe receptive language delay
Infection caused by Norovirus
Diabetic Heart Disease
End stage renal disease due to hypertension
Chronic myelopathy
"Grand mal status epilepticus, refractory"
Chronic cerebrovascular accident
Acute deep venous thrombosis
Renal dysplasia
AA amyloidosis
Hypoplastic pelvis
Lumbar meningomyelocele
Cervical meningomyelocele
Discordant ventriculoarterial connection
Ichthyosis Congenita II
Acute disseminated encephalitis
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Surfactant protein D measurement
Familial Hypophosphatemic Rickets
"Vitamin D-Resistant Rickets, X-Linked"
Non-venereal endemic syphilis
"Cystinosis, Infantile Nephropathic"
"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT"
"MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA"
DYSTONIA 23
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI"
"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F"
AICARDI-GOUTIERES SYNDROME 6
Bart's Hemoglobinopathy
NEPHRONOPHTHISIS 14
"PROSTATE CANCER, HEREDITARY, 2"
"CEROID LIPOFUSCINOSIS, NEURONAL, 11"
"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A"
"TREMOR, HEREDITARY ESSENTIAL, 4"
"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE"
Progressive cGVHD
Triple Negative Breast Neoplasms
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3"
"MYOCLONUS, FAMILIAL CORTICAL"
"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE"
"INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS"
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F"
Congenital Amaurosis of Retinal Origin
Coloboma of the Retina
Neonatal Drug Withdrawal
"CILIARY DYSKINESIA, PRIMARY, 20"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8"
"CATARACT 4, MULTIPLE TYPES"
"Rickets, X-Linked Hypophosphatemic"
Soluble Transferrin Receptor Measurement
"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY"
PONTINE TEGMENTAL CAP DYSPLASIA
"Spondyloepiphyseal Dysplasia Tarda, X-Linked"
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1"
"ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE"
"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT"
"ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT"
"ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT"
NEPHRONOPHTHISIS 15
Sperm Motility Measurement
Drug Hypersensitivity Syndrome
Duchenne and Becker Muscular Dystrophy
"SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME"
AORTIC VALVE DISEASE 2
"AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE"
PEROXISOME BIOGENESIS DISORDER 5B
Aminoacylase 2 Deficiency
ADH-Resistant Diabetes Insipidus
Acute Infective Polyneuritis
"SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE"
"CILIARY DYSKINESIA, PRIMARY, 17"
"IMMUNODEFICIENCY, COMMON VARIABLE, 7"
Surgical incision wound (morphologic abnormality)
Experimental Organism Benign Basalioma
"CILIARY DYSKINESIA, PRIMARY, 18"
"CILIARY DYSKINESIA, PRIMARY, 19"
Collodion Fetus
Congenital central diabetes insipidus
Borderline mucinous tumour of ovary
Ovarian clear cell carcinoma
Reversible cerebral vasoconstriction syndrome
Congenital intestinal obstruction
Intrahepatic cholangiocarcinoma recurrent
Hepatobiliary cancer
Asymptomatic hypoglycaemia
Treatment-resistant schizophrenia
Prostatic fibrosis
Intestinal fibrosis
response to temozolomide
response to ketamine
response to metformin
response to fenofibrate
response to bronchodilator
response to antineoplastic agent
response to alcohol
response to irinotecan
response to aromatase inhibitor
response to statin
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
NOR POLYAGGLUTINATION SYNDROME
Echogenic kidneys
Deafness (in some patients)
Retinal thinning
"Breast cancer, lobular"
"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1"
Uterine leiomyosarcoma (less common)
Cutaneous leiomyosarcoma (less common)
"Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)"
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
"MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC"
Recurrent thrombophlebitis
PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
Aged leonine appearance
Multiple rows of eyelashes
Eclabion
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
PEROXISOME BIOGENESIS DISORDER 3B
Abnormality of digit
"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA"
"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES"
Hypoplasia of the calcaneus
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 6"
BARATELA-SCOTT SYNDROME
CORNELIA DE LANGE SYNDROME 5
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 32"
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
"HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT"
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Short ear
"Night blindness, stationary"
UV-SENSITIVE SYNDROME 1
PEROXISOMAL BIOGENESIS DISORDER 3B
Dystrophic fingernails
Sparse or absent eyelashes
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT"
CORTISONE REDUCTASE DEFICIENCY 1
"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO"
"COENZYME Q10 DEFICIENCY, PRIMARY, 1"
Respiratory insufficiency due to defective ciliary clearance
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
Hypoplasia of the semicircular canal
ACHROMATOPSIA 6
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR"
"MYASTHENIC SYNDROME, CONGENITAL, 12"
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Deviation of the thumb
Pseudoepiphysis of the thumb
"AUTISM, SUSCEPTIBILITY TO, 14A"
Talus valgus
Metaphyseal sclerosis
Generalized ichthyosis
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
LYMPHOPROLIFERATIVE SYNDROME 1
EEG with photoparoxysmal response
Enhancement of the C-reflex
Jerk-locked premyoclonus spikes
RETINITIS PIGMENTOSA 65
Peripheral retinal atrophy
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT"
"MICROPHTHALMIA, SYNDROMIC 11"
Agenesis of pineal gland
Bilateral cleft palate
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 14"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 15"
COFFIN-SIRIS SYNDROME 4
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
JOUBERT SYNDROME 17
DIARRHEA 6
HYPEREKPLEXIA 3
HYPEREKPLEXIA 2
UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 3
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7"
Subcortical heterotopia
"COENZYME Q10 DEFICIENCY, PRIMARY, 6"
"COENZYME Q10 DEFICIENCY, PRIMARY, 2"
"COENZYME Q10 DEFICIENCY, PRIMARY, 3"
Limited hip extension
"COENZYME Q10 DEFICIENCY, PRIMARY, 5"
CORTISONE REDUCTASE DEFICIENCY 2
AURICULOCONDYLAR SYNDROME 2
"CARDIOMYOPATHY, DILATED, 2B"
"MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE"
"PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B"
Profound global developmental delay
"INFLUENZA, SEVERE, SUSCEPTIBILITY TO"
"SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS"
CATARACT 38
"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY"
CORNELIA DE LANGE SYNDROME 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
BROWN-VIALETTO-VAN LAERE SYNDROME 2
"POROKERATOSIS 7, MULTIPLE TYPES"
Carbohydrate deficient glycoprotein syndrome type 2k
SECKEL SYNDROME 6
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
"3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7"
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1"
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2"
"FACIAL PARESIS, HEREDITARY CONGENITAL, 3"
"INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL"
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
"MYASTHENIC SYNDROME, CONGENITAL, 13"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB"
Malan overgrowth syndrome
"CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION"
"HETEROTAXY, VISCERAL, 6, AUTOSOMAL"
"MYOPATHY, CENTRONUCLEAR, 4"
AMYOTROPHIC LATERAL SCLEROSIS 18
CFHR5 DEFICIENCY
Microcephaly in adulthood
ADAMS-OLIVER SYNDROME 3
Absent toe
JOUBERT SYNDROME 18
LOEYS-DIETZ SYNDROME 4
Joint hyperflexibility
"INTERSTITIAL NEPHRITIS, KARYOMEGALIC"
WEILL-MARCHESANI SYNDROME 3
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
SPERMATOGENIC FAILURE 10
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4"
"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES"
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
JOUBERT SYNDROME 19
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6"
SECKEL SYNDROME 7
"MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE"
"OSTEOGENESIS IMPERFECTA, TYPE XIII"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE"
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
"DEAFNESS, AUTOSOMAL RECESSIVE 98"
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
"T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS"
"USHER SYNDROME, TYPE IJ"
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6B
"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8"
PEROXISOME BIOGENESIS DISORDER 7B
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 8B
"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED"
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5"
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
DIAMOND-BLACKFAN ANEMIA 11
LETHAL CONGENITAL CONTRACTURE SYNDROME 4
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4"
PEROXISOME BIOGENESIS DISORDER 14B
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
PERRAULT SYNDROME 2
Thin toenail
"ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE"
"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
"DEAFNESS, AUTOSOMAL RECESSIVE 84B"
"DEAFNESS, AUTOSOMAL RECESSIVE 18B"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14"
Congenital pontocerebellar hypoplasia type 8
LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN RECEPTOR DEFICIENCY
Congenital pontocerebellar hypoplasia type 7
JOUBERT SYNDROME 20
"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3"
FOCAL FACIAL DERMAL DYSPLASIA 4
CARPENTER SYNDROME 2
"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2"
"EPILEPSY, NOCTURNAL FRONTAL LOBE, 5"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15"
"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4"
"NEPHROTIC SYNDROME, TYPE 7"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 17"
Phosphohydroxylysinuria
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9"
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q"
"EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE"
"AUTISM, SUSCEPTIBILITY TO, 18"
DYSTONIA 24
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu"
"SPINAL MUSCULAR ATROPHY, JOKELA TYPE"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F"
HYPOTRICHOSIS 11
Distal arthrogryposis type 5D
"OSTEOGENESIS IMPERFECTA, TYPE XIV"
Microcephalic primordial dwarfism Alazami type
"BRACHYDACTYLY, TYPE A1, C"
DYSTONIA 25
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 18"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 19"
SPERMATOGENIC FAILURE 11
"C3HEX, ABILITY TO SMELL"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 12"
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8"
LEFT VENTRICULAR NONCOMPACTION 7
"MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE"
COWDEN SYNDROME 4
COWDEN SYNDROME 5
COWDEN SYNDROME 6
UROFACIAL SYNDROME 2
"MICROPHTHALMIA, ISOLATED 8"
"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2"
Persistent lactic acidosis
LYMPHOPROLIFERATIVE SYNDROME 2
Persistent EBV viremia
Young adult onset
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9"
"MAPLE SYRUP URINE DISEASE, MILD VARIANT"
"FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE"
Telangiectases of the cheeks
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9"
"RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME"
STEEL SYNDROME
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5"
Contracture of the proximal interphalangeal joint of the 5th finger
Ulnar deviation of the 3rd finger
Adducted thumb
Light complexion
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11"
"CARDIOMYOPATHY, DILATED, 1II"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5"
LISSENCEPHALY 5
"BLEEDING DISORDER, PLATELET-TYPE, 15"
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Clavicular sclerosis
IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 56
"AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE"
ATAXIA-OCULOMOTOR APRAXIA 3
"HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES"
Morning glory anomaly
Complete duplication of thumb phalanx
Loose anagen hair
Functional intestinal obstruction
Unbearable Pain
Unilateral microphthalmos
Renal Artery Disease
High Grade Astrocytic Tumor
Congenital Bleeding Disorder
Experimental Organism Malignant Hepatocholangiocellular Carcinoma
Placental Malformation
Luminal A Breast Carcinoma
Luminal B Breast Carcinoma
Basal-Like Breast Carcinoma
Autosomal Recessive Centronuclear Myopathy
Congenital Osteopetrosis
Secondary malignant neoplasm of ovary
Oculocutaneous albinism type 4
Vasculogenic erectile dysfunction
Congenital condition
Dysbiosis
Hypertriglyceridemic Waist
"Prostatic Cancer, Castration-Resistant"
"Prostatic Neoplasms, Castration-Resistant"
Drug-Induced Acute Liver Injury
Hereditary Antithrombin Deficiency
Zellweger Spectrum
Mycoplasma-Induced Stevens-Johnson Syndrome
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Nodding Syndrome
Partial Fetal Alcohol Syndrome
17p11.2 Monosomy
Autosomal Dominant Myotubular Myopathy
Hereditary Motor Neuronopathy
Congenital Intestinal Aganglionosis
Autosomal Recessive Chronic Granulomatous Disease
Static encephalopathy
Fetal anencephaly
Drug pseudoallergy
Allergic sensitization
Catastrophic antiphospholipid syndrome
Acquired sensorineural hearing loss
Discogenic pain
Primary hypertrophic cardiomyopathy
Keratitis-Ichthyosis-Deafness Syndrome
"Cutis laxa, autosomal recessive"
Bacterial sepsis of newborn
Progressive Cone Dystrophy
Unspecified visual loss
Visual Impairment
Secondary hypothyroidism
Galactorrhea
"Arteriosclerotic cardiovascular disease, NOS"
"2,8-Dihydroxyadenine Urolithiasis"
Abnormal vision
intracranial glioma
Hemoglobin M Disease
Mature cataract
Neutrophilia (disorder)
Dementia due to Alzheimer's disease (disorder)
Bilateral Deafness
Familial Osteochondritis Dissecans
Borderline epithelial tumor of ovary
Congenital anomaly of cardiovascular system (disorder)
Melanocytic nevus of skin
Warts
Hypomineralization of enamel of tooth
Dental fluorosis
Undifferentiated attention deficit disorder
Congenital reticular ichthyosiform erythroderma
Intracranial artery dissection
Metastatic Dermatofibrosarcoma Protuberans
Hypocalvaria
Streptococcal endocarditis
Intracranial germ cell tumor
CYP2B6 polymorphism
Perinatal stroke
Hypocarnitinaemia
Parenteral nutrition associated liver disease
Craniofacial deformity
Passenger lymphocyte syndrome
Neutrophilic folliculitis
Myopic choroidal neovascularization
Renal hypoperfusion
Influenza due to Influenza A virus subtype H7N9
Oral aversion
Secondary pulmonary arterial hypertension
Transfusion dependent anaemia
Breakthrough infection
Cholangiopathy
Hypermetria (finding)
"Luteinizing Hormone Resistance, Female"
Dmd-Associated Dilated Cardiomyopathy
Atelosteogenesis Type 3
Fatty Acid Hydroxylase-Associated Neurodegeneration
Circling behavior
Round cell tumor
11-Beta-hydroxylase deficiency
5-Alpha Reductase Deficiency
Progressive retinal atrophy
Mammary adenocarcinoma
X-Linked Chondrodysplasia Punctata 1
Orthokeratotic hyperkeratosis
Skeletal muscle fibrosis
Myofiber disarray
Sebocystomatosis
Cyclic Hematopoesis
Hypernatriuria
Copper accumulation in liver
Bile duct hyperplasia
Autosomal Recessive Cerebellar Ataxia Type 1
Ataxia Neuropathy Spectrum
Chromosome 17p Deletion Syndrome
Biliary hyperplasia
Middle Eastern Respiratory Syndrome
Broad uvula
Giant Cell Fibroblastoma
Middle East Respiratory Syndrome
GLYCOGEN STORAGE DISEASE IXa1
"Glycogen storage disease, type IXA"
"GLYCOGEN STORAGE DISEASE, TYPE IIIb"
"GLYCOGEN STORAGE DISEASE, TYPE IIIa"
Charcot-Marie-Tooth disease type 4B3
Symptomatic carotid artery stenosis
Astrocytoma of brain
Oculocutaneous albinism type 6
Chronic kidney disease due to hypertension
3-Methylglutaconic Aciduria
Pulpalgia
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Precapillary pulmonary hypertension
Coronary microvascular dysfunction
Ulcerative colitis in remission
Pulmonary arterial hypertension associated with congenital heart disease
Fibrous dysplasia of bone with intramuscular myxoma
Systemic lupus erythematosus in remission
Short lower third of face
15q24 Microdeletion
Oculoskeletal dysplasia
Non-infectious systemic inflammatory response syndrome
Spinal cord myoclonus
Acute flaccid paralysis
Chronic post-thoracotomy pain syndrome
Proliferative verrucous oral leukoplakia
Postoperative meningitis
Intractable nausea and vomiting
Telangiectatic focal nodular hyperplasia
Sialadenoma papilliferum
Pulmonary arterial hypertension associated with connective tissue disease
Inherited aminoaciduria
Congenital prelingual deafness
Cardiac channelopathy
Noninvasive carcinoma ex pleomorphic adenoma
Cerebral cortex myoclonus
Anti-D isoimmunization affecting pregnancy
Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
Refractory myoclonic epilepsy
Peri-implant mucositis
Intraosseous mucoepidermoid carcinoma
Axillary web syndrome
Post-traumatic Porencephaly
"Ohdo syndrome, Maat-Kievit-Brunner type"
Alcohol abuse or dependence
Cap Myopathy
"Torticollis, familial"
Metatropic Dysplasia Type 1
Surfactant Dysfunction
Succinate-Coa Ligase Deficiency
Spastic Paraplegia Type 7
Spastic Paraplegia Type 4
Nonsyndromic Deafness
Isodicentric Chromosome 15 Syndrome
Intranuclear Rod Myopathy
Inherited Thyroxine-Binding Globulin Deficiency
Huntington Disease-Like Syndrome
Hereditary Diffuse Leukoencephalopathy with Spheroids
Familial Acute Myeloid Leukemia with Mutated Cebpa
Early-Onset Glaucoma
"Distal Hereditary Motor Neuropathy, Type II"
Deoxyguanosine Kinase Deficiency
Autosomal Recessive Primary Microcephaly
African Hemochromatosis
Actin-Accumulation Myopathy
9q22.3 Microdeletion
6q24-Related Transient Neonatal Diabetes Mellitus
"Hdl Deficiency, Type 2"
X-Linked Csnb
Juvenile Primary Osteoporosis
Pdgfrb-Associated Chronic Eosinophilic Leukemia
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Nonsyndromic Holoprosencephaly
Opticospinal Multiple Sclerosis
Ppm-X Syndrome
Familial Hyperaldosteronism
"46,XY Disorder of Sex Development Due To LH Defects"
Trisomy Xq28
"Blepharophimosis, Ptosis, and Epicanthus Inversus Type II"
"Trifunctional Protein Deficiency, Type 2"
Bmpr1a-Related Juvenile Polyposis
Smad4-Related Juvenile Polyposis
Reactive airway disease
Meckel syndrome type 1
Nutrition Disorders
Infection
Fibromyxosarcoma
dowling-degos disease
"Malocclusion, Angle class II"
"Lymphoma, Diffuse"
Hypokalemic periodic paralysis type 1
Multicystic Dysplastic Kidney
Staphylococcal toxic shock syndrome
Primary Hyperthyroidism
Insulin resistance syndrome
Neuropathic pain
Respirovirus Infections
Pneumonitis
Thymus Neoplasms
Follicular Variant Thyroid Gland Papillary Carcinoma
Obsessional personality disorder
AV Block Second Degree by ECG Finding
Early childhood caries
Mesothelial Neoplasms
Psychosexual dysfunction
Malabsorption
"RETINOSCHISIS 1, X-LINKED, JUVENILE"
Intellectual Disability
Juvenile rheumatoid arthritis
Juvenile psoriatic arthritis
Drug-induced tardive dyskinesia
Recurrent fevers
Isolated somatotropin deficiency
"Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia"
"Axenfeld-Rieger Syndrome, Type 1"
SMITH-MCCORT DYSPLASIA 2
"SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE"
"SYMPHALANGISM, PROXIMAL, 1A"
"MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14"
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
"MYOPATHY, MYOFIBRILLAR, 3"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 2
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 4
"PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO"
ACTIVATED PI3K-DELTA SYNDROME
BARDET-BIEDL SYNDROME 17
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
"CANDIDIASIS, FAMILIAL, 8"
CAP MYOPATHY 1
"CARDIOMYOPATHY, DILATED, 1KK"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22"
"CEROID LIPOFUSCINOSIS, NEURONAL, 13"
CRANIOSYNOSTOSIS 3
"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1"
"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1"
Necrotising myositis
AMYOTROPHIC LATERAL SCLEROSIS 19
AMYOTROPHIC LATERAL SCLEROSIS 20
LEBER CONGENITAL AMAUROSIS 17
LEFT VENTRICULAR NONCOMPACTION 10
"ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME"
Primary congenital hypothyroidism
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
AV Block First Degree by ECG Finding
RETINITIS PIGMENTOSA 66
Pathergy reaction
Dysgnathia
JC virus granule cell neuronopathy
Benign genitourinary tract neoplasm
Acquired antithrombin III deficiency
Phospholipidosis
Vascular cognitive impairment
Decreased intestinal transit time
Prodromal Alzheimer's disease
Portal fibrosis
Hyperfibrinolysis
Methylenetetrahydrofolate reductase gene mutation
Parkinson's disease psychosis
Non-transfusion dependent thalassaemia
Chronic hepatitis C virus genotype 1
Anal LSIL
Appendicolith
Pulmonary leukostasis
Hypoxic respiratory failure
Hepatitis B flare
Post polycythaemia vera myelofibrosis
Post essential thrombocythaemia myelofibrosis
Mid aortic syndrome
Late onset neutropenia
Residual pain
Type B gastritis
Extrahepatic Cholangiocarcinoma
Congenital heart disease (variable)
"CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY"
Pits of palms and soles
CATARACT 13 WITH ADULT i PHENOTYPE
"ALBINISM, OCULOCUTANEOUS, TYPE VI"
"CATARACT 20, MULTIPLE TYPES"
CATARACT 30
CATARACT 41
Popliteal pterygium
"COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION"
Calf muscle hypoplasia
Microorchidism
Increased fracture rate
FOVEAL HYPOPLASIA 1
"CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED"
Generalized muscle hypertrophy
Hyperpigmented nevi and streak
Short stepped shuffling gait
Medial rotation of the medial malleolus
"MEGALENCEPHALY, AUTOSOMAL DOMINANT"
Sebaceous gland tumors
Biceps aplasia
Quadriceps aplasia
"NEUROCUTANEOUS MELANOSIS, SOMATIC"
"VON HIPPEL-LINDAU SYNDROME, MODIFIER OF"
Central hypoventilation
Cutaneous lichen amyloidosis
Hyperpigmentation in sun-exposed areas
"PRECOCIOUS PUBERTY, CENTRAL, 1"
Pigment deposition in the trabecular meshwork
Asymmetry of intraocular pressure
Increased cup-to-disc ratio
Elevated pulmonary artery pressure
Recurrent intrapulmonary hemorrhage
Scapular muscle atrophy
Increased red cell hemolysis by shear stress
"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1"
BARDET-BIEDL SYNDROME 18
Spotty hypopigmentation
Spotty hyperpigmentation
Neonatal breathing dysregulation
Episodic tachypnea
Giant melanosomes in melanocytes
Ectopic calcification
DEAFNESS AND MYOPIA
Laryngotracheal stenosis
Recurrent infections due to aspiration
Decreased sensitivity to hypoxemia
Scarring alopecia of scalp
Periarticular subcutaneous nodules
Hyperhomocystinemia
"EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION"
Continuous spike and waves during slow sleep
"MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE"
Numerous congenital melanocytic nevi
Progressive vitiligo
Myoclonic spasms
Increased urinary taurine
"Apneic episodes precipitated by illness, fatigue, stress"
Respiratory insufficiency due to muscle weakness
Recurrent respiratory infections
Horizontal ribs
Horizontal inferior border of scapula
Disproportionate shortening of the tibia
Tibial deviation of toes
"XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME"
"CONGENITAL SHORT BOWEL SYNDROME, X-LINKED"
Functional abnormality of the bladder
Infantile axial hypotonia
"Macular hypopigmented whorls, streaks, and patches"
"DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION"
Enteroviral dermatomyositis syndrome
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
Solute carrier family 35 member A2 congenital disorder of glycosylation
"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6"
"ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO"
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
"PARKINSONISM WITH SPASTICITY, X-LINKED"
"MENTAL RETARDATION, X-LINKED 98"
"DEAFNESS, X-LINKED 6"
"MICROPHTHALMIA, SYNDROMIC 13"
"PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED"
"MENTAL RETARDATION, X-LINKED 99"
CRANIOSYNOSTOSIS 4
PULMONARY VENOOCCLUSIVE DISEASE 1
Giant somatosensory evoked potentials
Intermittent episodes of respiratory insufficiency due to muscle weakness
Reduced renal corticomedullary differentiation
"CATARACT 11, POSTERIOR POLAR"
"CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES"
"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT"
Acute rhabdomyolysis
"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1"
AMYOTROPHIC LATERAL SCLEROSIS 21
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
"PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME"
Widening of cervical spinal canal
Bilateral foot drop
FOVEAL HYPOPLASIA 2
CAP MYOPATHY 2
Apneic episodes in infancy
"CATARACT 23, MULTIPLE TYPES"
Episodic abdominal pain
Nemaline bodies
Breathing dysregulation
Renal hypodysplasia
"CATARACT 33, MULTIPLE TYPES"
"CATARACT 12, MULTIPLE TYPES"
LEFT VENTRICULAR NONCOMPACTION 9
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 22"
Abnormality of the optic disc
Reduced forced vital capacity
Acetabular spurs
"CATARACT 16, MULTIPLE TYPES"
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1"
Large fleshy ears
Gastrointestinal malrotation
PERRAULT SYNDROME 3
"Renal cell carcinoma, usually clear cell type"
CHROMOSOME 2p16.3 DELETION SYNDROME
Poor respiratory effort
Bone marrow failure syndrome 1
IMMUNODEFICIENCY 32A
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7"
"EPISODIC PAIN SYNDROME, FAMILIAL, 1"
"MYASTHENIC SYNDROME, CONGENITAL, 8"
"ALBINISM, OCULOCUTANEOUS, TYPE VII"
"CATARACT 39, MULTIPLE TYPES"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4"
Chronic hepatitis due to cryptosporidium infection
Recurrent gastroenteritis
"OSTEOGENESIS IMPERFECTA, TYPE XV"
"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2"
"PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING"
Short neck (in some patients)
"POLYDACTYLY, POSTAXIAL, TYPE A6"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4"
SCHIZOPHRENIA 18
"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2"
"CARDIOMYOPATHY, DILATED, 1JJ"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5"
"NEPHROTIC SYNDROME, TYPE 8"
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12"
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4"
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
"FANCONI ANEMIA, COMPLEMENTATION GROUP Q"
NGLY1 deficiency
"CATARACT 15, MULTIPLE TYPES"
"CATARACT 19, MULTIPLE TYPES"
CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 4
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2"
"NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13"
"MYOFIBROMATOSIS, INFANTILE, 2"
"CILIARY DYSKINESIA, PRIMARY, 21"
ADAMS-OLIVER SYNDROME 4
"SYMPHALANGISM, PROXIMAL, 1B"
PERRAULT SYNDROME 4
DOWLING-DEGOS DISEASE 2
"Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome"
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16"
"Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)"
"PULMONARY HYPERTENSION, PRIMARY, 3"
"PULMONARY HYPERTENSION, PRIMARY, 4"
"PRECOCIOUS PUBERTY, CENTRAL, 2"
NEMALINE MYOPATHY 8
"EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14"
NOONAN SYNDROME 8
"HYPOCALCEMIA, AUTOSOMAL DOMINANT 2"
ESTROGEN RESISTANCE
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
"EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET"
LEFT VENTRICULAR NONCOMPACTION 8
"CARDIOMYOPATHY, DILATED, 1LL"
CONE-ROD DYSTROPHY 18
Foveal hyperpigmentation
"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C"
"ATRIAL FIBRILLATION, FAMILIAL, 13"
"ATRIAL FIBRILLATION, FAMILIAL, 14"
NEPHRONOPHTHISIS 16
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14"
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
"CARDIOMYOPATHY, DILATED, 1MM"
"MECKEL SYNDROME, TYPE 11"
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5"
IMMUNODEFICIENCY 8
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3"
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4"
SPERMATOGENIC FAILURE 12
"MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE"
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
"MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE"
"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1"
"MYOPIA 22, AUTOSOMAL DOMINANT"
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2"
"MYOPIA 23, AUTOSOMAL RECESSIVE"
SPECIFIC LANGUAGE IMPAIRMENT 5
"AORTIC ANEURYSM, FAMILIAL THORACIC 8"
INFANTILE LIVER FAILURE SYNDROME 1
"MACULAR DEGENERATION, AGE-RELATED, 13"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS"
"CILIARY DYSKINESIA, PRIMARY, 22"
"CILIARY DYSKINESIA, PRIMARY, 23"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6"
"MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS"
IMMUNODEFICIENCY 12
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17"
"PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18"
"CILIARY DYSKINESIA, PRIMARY, 24"
"CILIARY DYSKINESIA, PRIMARY, 25"
"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5"
BAINBRIDGE-ROPERS SYNDROME
INFANTILE LIVER FAILURE SYNDROME 2
"MACULAR DEGENERATION, AGE-RELATED, 14"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R"
"SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37"
"CILIARY DYSKINESIA, PRIMARY, 26"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 21"
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
"CILIARY DYSKINESIA, PRIMARY, 27"
"CILIARY DYSKINESIA, PRIMARY, 28"
"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5"
"Spontaneous, recurrent epistaxis"
"Severe dermatitis, multiple allergies, metabolic wasting syndrome"
"ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38"
IMMUNODEFICIENCY 13
Recurrent shingles
Cole disease
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8"
"MICROPHTHALMIA, SYNDROMIC 12"
"PARKINSON DISEASE 19A, JUVENILE-ONSET"
"CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO"
"PARKINSON DISEASE 20, EARLY-ONSET"
Staring gaze
"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39"
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
PERIVENTRICULAR NODULAR HETEROTOPIA 6
"LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3"
VAN MALDERGEM SYNDROME 2
Prader-Willi-like syndrome
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII"
DIAMOND-BLACKFAN ANEMIA 12
"EPISODIC PAIN SYNDROME, FAMILIAL, 2"
"EPISODIC PAIN SYNDROME, FAMILIAL, 3"
"ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES"
MULTIPLE FIBROADENOMAS OF THE BREAST
"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III"
COMPLEMENT FACTOR B DEFICIENCY
RETINITIS PIGMENTOSA 67
"NEPHROTIC SYNDROME, TYPE 9"
ASPARAGINE SYNTHETASE DEFICIENCY
"IMMUNODEFICIENCY, COMMON VARIABLE, 10"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
RIENHOFF SYNDROME
Bilateral coxa valga
VERHEIJ SYNDROME
ALZHEIMER DISEASE 18
"MACULAR DEGENERATION, AGE-RELATED, 15"
IMMUNODEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
Congenital disorder of glycosylation type 1w
Palmoplantar keratoderma Nagashima type
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40"
MEMORY QUANTITATIVE TRAIT LOCUS
L-FERRITIN DEFICIENCY
FANCONI RENOTUBULAR SYNDROME 3
IMMUNODEFICIENCY 17
IMMUNODEFICIENCY 18
"IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT"
"IMMUNODEFICIENCY 18, SCID VARIANT"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13"
IMMUNODEFICIENCY 19
"SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT"
"DEAFNESS, AUTOSOMAL DOMINANT 56"
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib"
"NEUROPATHY, HEREDITARY SENSORY, TYPE IF"
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
JOUBERT SYNDROME 21
Elongated superior cerebellar peduncle
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41"
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
LEUKOENCEPHALOPATHY WITH ATAXIA
WARBURG MICRO SYNDROME 4
JOUBERT SYNDROME 22
SCHWANNOMATOSIS 2
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
"SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE"
DOWLING-DEGOS DISEASE 4
MORBID OBESITY AND SPERMATOGENIC FAILURE
"POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15"
AURICULOCONDYLAR SYNDROME 3
IMMUNODEFICIENCY 20
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
ALZHEIMER DISEASE 19
Bone marrow failure syndrome 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
RENAL HYPODYSPLASIA/APLASIA 2
"Optic atrophy, intellectual disability syndrome"
Central visual impairment
PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 9
RETINITIS PIGMENTOSA 68
NEMALINE MYOPATHY 9
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19"
ATRIAL STANDSTILL 2
"ECULIZUMAB, POOR RESPONSE TO"
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
"CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO"
"POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 23"
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5"
Hyperlaxity
Low-frequency sensorineural hearing impairment
Increased corneal thickness
Intercrural pterygium
Occasional neurofibromas
"MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO"
Triceps aplasia
Increased urinary hypoxanthine
Estrogen Receptor Measurement
Experimental Organism Basal Cell Carcinoma
SUCLA2
GRN-related frontotemporal dementia
Chronic idiopathic pulmonary fibrosis
Interleukin 1 Receptor Antagonist Measurement
Endometrioid intraepithelial neoplasia
Papillary carcinoma of the breast
Experimental Organism Islet Cell Adenoma Neoplasm
Skin Vesicle
Low grade central osteosarcoma
Sudden Unexplained Infant Death
"Phosphaturic mesenchymal tumor, benign"
Interleukin 1 Beta Measurement
response to cyclophosphamide
response to epirubicin
Harmful use of ketamine
Flaviviral diseases
Lymphomas in children
Obesity in animals
Mycoplasma pneumoniae Infection
Chlamydophila pneumoniae infections
Osteoporosis in children
Arthritis in animals
Hypertension in old age
Respiratory infections in children
Learning disabled
Mitochondrial pathology
Brucellosis in animals
Visceral reflex
Diabetes in old age
Cataract in old age
Food allergy in infants
Stereotyped behavior (Psychiatry)
Headache in children
Congenital heart disease in children
Cystic fibrosis in children
Diabetes in adolescence
Migraine in children
Protozoan diseases
Hodgkin's disease in children
Epilepsy in adolescence
Pain in children
Depression in old age
Diabetes in youth
Vesico-ureteral reflux in children
Tuberculosis in children
Thromboembolism in children
Rheumatic fever in children
Retina--Diseases
Respiratory allergy
Pneumonia in children
Pediatric respiratory diseases
Otitis media in children
Nephrotic syndrome in children
Multiple sclerosis in children
Meningitis in children
Lymphoblastic leukemia in children
Leprosy in children
Iron deficiency anemia in children
Infection in children
Hypothyroidism in children
Hypertension in children
Hepatitis in children
Hearing impaired children
Head--Tumors
Gastrointestinal system--Diseases
Gastroenteritis in children
Food allergy in children
Epilepsy in children
Neural tube--Abnormalities
Diarrhea in children
Diabetes in children
Depression in children
Dental caries in children
Chest--Tumors
Chest--Diseases
Celiac disease in children
Cardiac arrest in children
Bronchitis in children
Muscular atrophy in children
Anemia in children
AIDS (Disease)
Abdominal pain in children
Juvenile polymyositis
Classical Glioblastoma
Sudden Unexplained Death in Childhood
Umbilical cord occlusion
Transient hypothyroxinaemia of prematurity
Spontaneous Preterm Birth
Radiation Damage
Proneural Glioblastoma
Primary hypoparathyroidism
Pre-Gestational Diabetes
Platelet Component Distribution Width Measurement
Neural Glioblastoma
Mesenchymal Glioblastoma
Masaoka-Koga Stage IVa
Masaoka-Koga Stage III
Intrapartum fever
ECOG Performance Status 1
Early Pregnancy Loss
Disseminated Bacillus Calmette-Guerin infection
Diabetic embryopathy
Clinical Chorioamnionitis
Class 2 Uveal Melanoma
Acute monocytic/monoblastic leukemia
"MECKEL SYNDROME, TYPE 8"
Hoarding Disorder
"Diabetes Mellitus, Ketosis-Prone"
"BASAL CELL CARCINOMA, SOMATIC"
Simple Virilizing 21-Hydroxylase Deficiency
Serous intraepithelial carcinoma
Familial hyperaldosteronism type 1
Congenital leptin deficiency
Familial hyperaldosteronism type 3
Bilateral cerebral palsy
Tubulolobular carcinoma
Phakomatosis cesioflammea
Invasive micropapillary carcinoma of breast
Microcystic stromal tumor
Compensated liver disease
Severe dry skin
"Phosphaturic mesenchymal tumor, malignant"
"Perivascular epithelioid tumor, malignant"
Low grade serous carcinoma
Signet-ring stromal tumor
High grade serous carcinoma
Phakomatosis cesiomarmorata
Kuskokwim syndrome
Edema of upper eyelid
Nonprogressive
Diminished ovarian reserve
Anemia in malignant neoplastic disease
Secondary osteoporosis
Postpartum gestational diabetes mellitus
Complex craniosynostosis
Seromucinous borderline tumor
Hallux valgus interphalangeus
Sensitization (disorder)
High astigmatism
Core binding factor acute myeloid leukemia
Uterine tumor resembling ovarian sex cord tumor
Abnormality of nail of toe
Pleomorphic hyalinizing angiectatic tumor
DICER1 syndrome
Chronic ankle pain
Cytogenetically normal acute myeloid leukemia
Hereditary cystatin C amyloid angiopathy
"Small cell carcinoma, hypercalcemic type"
Congenital stenosis of nasal pyriform aperture
Dysexecutive syndrome
Congenital velopharyngeal dysfunction
Late closure of anterior fontanel
Disorder of Achilles tendon
Congenital glenoid dysplasia
Acute coccidioidomycosis
Cannabis withdrawal
High-functioning autism
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma
Autoimmune thyroid disease (AITD)
Cleft Palate alone
Hb H disease
Hb E beta zero thalassemia
beta^+^ Thalassemia
Adult only
Mucinous (colloid) adenocarcinoma
Idiopathic thrombocytopenia (ITP)
Sound sensitivity
Squamous cell (epidermoid) carcinoma
"Asthma, doctor diagnosed"
Gastric or duodenal ulcer
Ulcerative colitis or Crohn's
Oval fat body
Critical congenital heart disease
Hb E beta-thalassemia
Attention Deficit Hyper Activity
"Myocardial infarction, stroke"
Acute-On-Chronic Liver Failure
Vascular Remodeling
Ovarian Reserve
Congenital Microtia
Pulmonary Arterial Remodeling
Acute Mesenteric Arterial Embolus
Occlusive Mesenteric Arterial Ischemia
Nonocclusive Mesenteric Ischemia
Acute Mesenteric Arterial Thrombosis
Severe Congenital Microcephaly
Postural headache
Aspirin exacerbated respiratory disease
Pdgfra-Associated Chronic Eosinophilic Leukemia
Neonatal Alloimmune Thrombocytopenia
Enterovirus 71 infection
Pre-renal acute kidney injury
Nevus sebaceous
Human immunodeficiency virus (HIV) II infection category B1
Pharyngeal dysphagia
Primary mucoepidermoid carcinoma of lung
Narrowing
Skin adhesion
Morvan syndrome
Hyperferritinaemia
Subperiosteal abscess
Autoresuscitation
Root canal infection
Bone marrow infiltration
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Rapidly progressive osteoarthritis
Atrio-oesophageal fistula
Neonatal testicular torsion
FNAITP
Anticipatory nausea
Tendon thickening
Hereditary angioedema attack
Osteoblastic bone metastases
Autoinflammatory disorder
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO"
enterovirus d68 infection
Bilateral carpal tunnel syndrome
Acute vascular graft rejection
Chronic active hepatitis C
Congenital pulmonary acinar dysplasia
Idiopathic eosinophilic pneumonia
Chronic pneumonitis of infancy
Amelogenesis imperfecta and gingival hyperplasia syndrome
Secondary pulmonary alveolar proteinosis
Primary adenocarcinoma of lung
Langerhans cell histiocytosis of skin
Acute pulmonary thromboembolism
Primary papillary adenocarcinoma of lung
Recurrent proliferative glomerulonephritis
Reticular oral lichen planus
Chronic ulcerative stomatitis
Invasive meningococcal disease
Epidemic gastroenteritis
Severe acute respiratory infection
Phagocytic immunodeficiency
Mycobacterial lymphadenitis
Peripheral neuropathy due to and following chemotherapy
Severe hearing loss
Skeletal malocclusion
Oncovirus infection
Childhood nephrotic syndrome
Human metapneumovirus infection
Gastroduodenal disorder
Exudative edema
Nodular thyroid disease
Familial hyperalphalipoproteinemia
Partial nephrogenic diabetes insipidus
Anterior pituitary hormone deficiency
Abnormal lipid deposits
Febrile urinary tract infection
Inflammatory dermatosis
Homozygous methylenetetrahydrofolate reductase mutation
Partial diabetes insipidus
Hypocalciuric hypercalcemia
Head and Neck Carcinoma
"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1"
Postaxial polydactyly type A
Clubbing of toes
Exudative pleural effusion
"ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE"
Oligodactyly
"Bifid Nose, Autosomal Recessive"
Bifid ureter
Renal cyst
"LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO"
Neonatal Listeriosis
Hyperkinesia
Avascular necrosis
Chromophobe carcinoma
Adult Myxopapillary Ependymoma
Childhood Pineoblastoma
Very long chain acyl-CoA dehydrogenase deficiency
Skin Erosion
"Keratosis Follicularis Spinulosa Decalvans, X-Linked"
OSTEOARTHRITIS SUSCEPTIBILITY 2
Fused cervical vertebrae
Keratoglobus
Central sleep apnea syndrome
Central Apnea
Memory dysfunction
Hemophagocytic Syndrome
Stricture of ureter
Acquired trigger finger
Nightmare Disorder
"HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1"
Restlessness
Psychomotor Agitation
"Dandy-Walker Syndrome, Familial"
Failure to thrive in infant
Autoimmune gastritis
Astrocytosis
Recurrent hepatitis
Job Syndrome
Adult Rickets
"POLYARTERITIS NODOSA, CHILDHOOD-ONSET"
"PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT"
Intraspinal Neoplasm
Retrocollis
Infection by larvae of Trichinella spiralis
"Central Nervous System Embryonal Tumor, Not Otherwise Specified"
Optic Neuropathy
WILMS TUMOR 2
Mountain Sickness
Decreased urine output
Basilar invagination
Hearing Loss
Visual field defects
OSTEOARTHRITIS SUSCEPTIBILITY 1
Aortic Valve Disease 1
Primary Adrenal Insufficiency
Idiopathic atrophoderma of Pasini and Pierini
Infantile Spasm
"AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST"
"CATARACT 32, MULTIPLE TYPES"
"DEAFNESS, AUTOSOMAL DOMINANT 27"
"CONE DYSTROPHY 5, X-LINKED"
Deuteranomaly
"MENTAL RETARDATION, X-LINKED 41"
"GLAUCOMA 1, OPEN ANGLE, B"
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
Apparent mineralocorticoid excess
"MENTAL RETARDATION, X-LINKED 49"
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
"RETINAL DYSPLASIA, PRIMARY"
"GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED"
Protanomaly
THYROTROPIN-RELEASING HORMONE DEFICIENCY
HERMANSKY-PUDLAK SYNDROME 3
"PULMONARY HYPERTENSION, PRIMARY, 2"
HERMANSKY-PUDLAK SYNDROME 5
HERMANSKY-PUDLAK SYNDROME 6
Congenital Hyperinsulinism
Cacosmia
HERMANSKY-PUDLAK SYNDROME 8
SPINOCEREBELLAR ATAXIA 35
Nephrogenic Systemic Fibrosis
"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT"
L-2-hydroxyglutaric acidemia
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
"Charcot-Marie-Tooth disease, Type 2I"
SMITH-MCCORT DYSPLASIA 1
Early onset torsion dystonia
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2"
"CATARACT 21, MULTIPLE TYPES"
"Cataract, Autosomal Recessive Congenital 1"
Autosomal dominant vitreoretinochoroidopathy
Frontotemporal Dementia With Motor Neuron Disease
Glomerulopathy with fibronectin deposits
"DEAFNESS, AUTOSOMAL DOMINANT 50"
"CATARACT 17, MULTIPLE TYPES"
INCREASED RESPONSIVENESS TO GROWTH HORMONE
"LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO"
MIXED LINEAGE LEUKEMIA
"IMPDH2 ENZYME ACTIVITY, VARIATION IN"
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE"
SPRINTING PERFORMANCE
ACTN3 DEFICIENCY
"PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF"
"SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT"
"SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE"
SECKEL SYNDROME 4
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1"
AICARDI-GOUTIERES SYNDROME 7
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT"
"Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B"
"Sialidosis, type 2"
"Myopathy, familial idiopathic inflammatory"
"DEAFNESS, AUTOSOMAL RECESSIVE 93"
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
"Cataract, Punctate, Progressive Juvenile-Onset"
Nonnuclear polymorphic congenital cataract
"ALBINISM, OCULOCUTANEOUS, TYPE V"
"CATARACT 5, MULTIPLE TYPES"
Colicky Pain
Enterovirus myocarditis
Dry age-related macular degeneration
Traumatic ulcerative granuloma with stromal eosinophilia
HER-2 protein overexpression
LDLR mutation
CYP2C9 polymorphism
CYP1A2 polymorphism
Autoimmune demyelinating disease
Autoimmune uveitis
Gastrointestinal wall thickening
Autoimmune colitis
UGT1A1 gene polymorphism
NAT1 polymorphism
Degenerative aortic valve disease
Degenerative mitral valve disease
Malignant Bowel Obstruction
Monogenic diabetes
Minimal hepatic encephalopathy
Pancreatic toxicity
Intestinal angioedema
Hepatic hypertrophy
Hyperosmolar Hyperglycemic State
Fistulising Crohn's disease
Rhonchopathy
Polyuria-polydipsia syndrome
Wet age-related macular degeneration
BAFF polymorphism
CYP2C19 poor metaboliser status
"Glycogen storage disease due to acid maltase deficiency, infantile onset"
Pompe's disease adult onset
Cryptococcus gattii infection
Autoimmune crescentic glomerulonephritis
POLG mutation
Embolic stroke of undetermined source
Postoperative hypopituitarism
Macular detachment
Hypocortisolaemia
Non-radiographic axial spondyloarthritis
Prolonged epileptic seizure
Ascending aortic dilatation
Milk protein allergy
Autoimmune adrenal insufficiency
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Other License Status
BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 19
Benign Familial Convulsion
"BCHE, FLUORIDE 2 PHENOTYPE"
"BCHE, J VARIANT PHENOTYPE"
"BCHE, H VARIANT PHENOTYPE"
ALBUMIN BLENHEIM PHENOTYPE
TRANSFERRIN VARIANT D1 PHENOTYPE
TRANSFERRIN VARIANT B2 PHENOTYPE
TRANSFERRIN VARIANT Bv PHENOTYPE
SPINOCEREBELLAR ATAXIA 37
HEMOGLOBIN SAINT ETIENNE PHENOTYPE
APOLIPOPROTEIN C-II (PADOVA) PHENOTYPE
HEMOGLOBIN C PHENOTYPE
Periodic Fever Syndrome
PROTEIN S HEERLEN PHENOTYPE
prothrombin type 3 phenotype
"MENTAL RETARDATION, X-LINKED 100"
"MENTAL RETARDATION, X-LINKED 101"
Psoriatic Juvenile Idiopathic Arthritis
"Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative"
P-Selectin Measurement
Post-Treatment Lyme Disease Syndrome
Liquid Tumor
NEPHRONOPHTHISIS 18
Bodily Pain
"Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive"
Autoinflammatory Syndrome
FACTOR VIII (OKAYAMA) PHENOTYPE
"THYROXINE-BINDING GLOBULIN, VARIANT A PHENOTYPE"
"THYROXINE-BINDING GLOBULIN, VARIANT P PHENOTYPE"
Acute Motor Axonal Neuropathy
"SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR"
"WILMS TUMOR, SUSCEPTIBILITY TO"
"NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO"
SECKEL SYNDROME 8
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
HEMOGLOBIN TUBINGEN PHENOTYPE
Growing Teratoma Syndrome
"Arthritis, Suppurative"
SARDINIAN HPFH PHENOTYPE
PANCREATIC AGENESIS 1
BARDET-BIEDL SYNDROME 5
Oligoarticular Arthritis
"DEAFNESS, AUTOSOMAL DOMINANT 65"
"DEAFNESS, AUTOSOMAL RECESSIVE 101"
"DEAFNESS, AUTOSOMAL RECESSIVE 102"
response to ACE inhibitor
response to simvastatin
Familial Colorectal Cancer Type X
New Onset Diabetes After Transplant
Familial Nonmedullary Thyroid Gland Carcinoma
Childhood Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia
Smoldering Systemic Mastocytosis
Short Stature Homeobox Deficiency
Childhood Gliomatosis Cerebri
BCLC Stage A Hepatocellular Carcinoma
Soluble Interleukin 6 Receptor Measurement
Refractory Childhood Hodgkin Lymphoma
recurrent fallopian tube cancer
recurrent childhood pleomorphic xanthoastrocytoma
recurrent childhood pilocytic astrocytoma
recurrent childhood oligodendroglioma
Recurrent Childhood Glioblastoma
Recurrent Childhood Anaplastic Astrocytoma
Post-Hemorrhagic Hydrocephalus
Persistent Oligoarticular Juvenile Idiopathic Arthritis
"PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II"
Pathological Gynecomastia
Orbital Melanoma
Oligoarticular Juvenile Idiopathic Arthritis
Nonerosive Arthritis
Non-Secretory Plasma Cell Myeloma
Non-Metastatic Childhood Soft Tissue Sarcoma
New or Worsening Symptom
Neurovascular Disorder
Neonatal Hypoxic Ischemic Encephalopathy
Necrotizing Funisitis
mucosal melanoma
Mild Bronchopulmonary Dysplasia
Masaoka-Koga Stage II
Malignant biliary obstruction
Low Grade Astrocytic Tumor
Loeys-Dietz Syndrome Type 2
Localized Castleman Disease
Intestinal-Type Sinonasal Adenocarcinoma
Keratitis caused by infection
hormone-resistant prostate cancer
familial testicular germ cell tumor
hereditary neuroblastoma
Extended Oligoarticular Juvenile Idiopathic Arthritis
Experimental Organism Benign Keratoacanthoma
Encephalopathy of Prematurity
Early Rheumatoid Arthritis
Early Inflammatory Arthritis
Early Disseminated Lyme Disease
Direct Extension
Decreased Concentration
Decreased Attention
Congenital hypogonadotropic hypogonadism
Childhood Undifferentiated Pleomorphic Sarcoma
Childhood Thyroid Gland Carcinoma
Childhood Pleomorphic Xanthoastrocytoma
Childhood Pilomyxoid Astrocytoma
Childhood Oligoastrocytoma
Childhood Mixed Glioma
Childhood Langerhans Cell Histiocytosis
Childhood Gliosarcoma
Childhood Giant Cell Glioblastoma
Childhood Gemistocytic Astrocytoma
Childhood Fibrillary Astrocytoma
Childhood Epithelioid Hemangioendothelioma
Childhood Diffuse Astrocytoma
Childhood Colorectal Carcinoma
Childhood Anaplastic Oligoastrocytoma
Calcineurin Nephrotoxicity
CIC-DUX Sarcoma
C4 Deficiency
Amotivation
Allograft Thrombosis
Adult Penile Carcinoma
Adult Myelodysplastic Syndrome
Adult Mixed Glioma
Adult Langerhans Cell Histiocytosis
Adult Germ Cell Tumor
Adult Epithelioid Hemangioendothelioma
Acute motor sensory axonal neuropathy
Acid-Labile Subunit Deficiency
"AMELOGENESIS IMPERFECTA, TYPE IA"
CATARACT 42
Abnormal eyebrow morphology
"MYOPATHY, TUBULAR AGGREGATE, 1"
"Nevus, Keratinocytic, Nonepidermolytic"
Behavioral variant of frontotemporal dementia
WHITE SPONGE NEVUS 1
IMMUNODEFICIENCY 27A
"COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE"
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID"
DESBUQUOIS DYSPLASIA 1
"TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE"
Congenital disorder of glycosylation type 1y
"PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING"
Enlarged ventricles (in some patients)
"HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES"
"ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE"
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Ataxia-Telangiectasisa-Like Disorder 1
Mild global developmental delay
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
LEBER CONGENITAL AMAUROSIS 18
"Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)"
"GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT"
Neuroendocrine cervical carcinoma
Bronchial carcinoid
Underdeveloped tragus
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13"
"ATRIAL FIBRILLATION, FAMILIAL, 17"
"POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL"
"ATRIAL FIBRILLATION, FAMILIAL, 16"
"Small cell carcinoma of the ovary, hypercalcemic type"
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 29
IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 31A
Bilateral striatal necrosis
IMMUNODEFICIENCY 22
"MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY"
"IMMUNODEFICIENCY, COMMON VARIABLE, 11"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16"
"ATRIAL FIBRILLATION, FAMILIAL, 15"
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6"
OOCYTE MATURATION DEFECT 1
DESBUQUOIS DYSPLASIA 2
"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4"
RETINITIS PIGMENTOSA 69
WHITE SPONGE NEVUS 2
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 10"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 9"
ABDOMINAL OBESITY-METABOLIC SYNDROME 3
IMMUNODEFICIENCY 23
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43"
"CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 24"
"AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome"
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 26"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8"
SPERMATOGENIC FAILURE 13
SPERMATOGENIC FAILURE 14
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10"
CULLER-JONES SYNDROME
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2E"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23"
CONE-ROD DYSTROPHY 19
"NEPHROTIC SYNDROME, TYPE 10"
"DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 27"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24"
"CILIARY DYSKINESIA, PRIMARY, 29"
"ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder"
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Tatton Brown Rahman syndrome
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
"MYOPATHY, TUBULAR AGGREGATE, 2"
HYPOTRICHOSIS 12
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5"
"BLEEDING DISORDER, PLATELET-TYPE, 18"
"LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE"
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
HYPOTRICHOSIS 13
IMMUNODEFICIENCY 24
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA"
DIAMOND-BLACKFAN ANEMIA 13
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
Abnormal mitochondrial morphology
"CARDIOMYOPATHY, DILATED, 1NN"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
RETINITIS PIGMENTOSA 70
"EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE"
"ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY"
WEBB-DATTANI SYNDROME
"STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET"
Follicular hyperplasia
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44"
"MYOPIA 24, AUTOSOMAL DOMINANT"
"HYPERLIPOPROTEINEMIA, TYPE ID"
OROFACIODIGITAL SYNDROME XIV
"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1"
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
"MYOPATHY, CENTRONUCLEAR, 5"
"Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome"
VESICOURETERAL REFLUX 8
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
NANOPHTHALMOS 4
CONE-ROD DYSTROPHY 20
IMMUNODEFICIENCY 27B
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6"
Renal abnormalities
"BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2"
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
IMMUNODEFICIENCY 36
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
"CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA"
"NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE"
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
ADAMS-OLIVER SYNDROME 5
"Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome"
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8
"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1"
Decreased plasma free carnitine
"CILIARY DYSKINESIA, PRIMARY, 30"
NEU-LAXOVA SYNDROME 2
"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D"
"MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC"
"DEAFNESS, AUTOSOMAL RECESSIVE 103"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
"MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7"
Hypoglycosylation of alpha-dystroglycan
Episodic ataxia with slurred speech
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26"
MIRROR MOVEMENTS 3
"POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE"
"46,XY SEX REVERSAL 9"
"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2"
Recurrent bronchiolitis
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 29"
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
"MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 1C"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 30"
"SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12"
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
IMMUNODEFICIENCY 37
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
Woolly scalp hair
CTLA4 Haploinsufficiency
"PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO"
"RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME"
"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9"
POLYENDOCRINE-POLYNEUROPATHY SYNDROME
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46"
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
"MACULAR DEGENERATION, EARLY-ONSET"
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17"
PERRAULT SYNDROME 5
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27"
"LEUKODYSTROPHY, HYPOMYELINATING, 9"
"MACULAR DYSTROPHY, VITELLIFORM, 4"
"MACULAR DYSTROPHY, VITELLIFORM, 5"
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 31"
NEMALINE MYOPATHY 10
"AORTIC ANEURYSM, FAMILIAL THORACIC 9"
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9"
"BLEEDING DISORDER, PLATELET-TYPE, 19"
OVARIAN DYSGENESIS 4
"EPILEPSY, PROGRESSIVE MYOCLONIC 7"
RETINAL DYSTROPHY AND OBESITY
"ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
POLYGLUCOSAN BODY MYOPATHY 2
RUIJS-AALFS SYNDROME
Thoracic kyphoscoliosis
Bilateral clinodactyly
Chronic atrial and intestinal dysrhythmia
CEREBELLOFACIODENTAL SYNDROME
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18"
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
"MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28"
LISSENCEPHALY 6 WITH MICROCEPHALY
THROMBOCYTOPENIA 5
NEPHRONOPHTHISIS 19
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5"
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
"AMELOGENESIS IMPERFECTA, TYPE IH"
Temple syndrome
"MYASTHENIC SYNDROME, CONGENITAL, 15"
"MYASTHENIC SYNDROME, CONGENITAL, 14"
"OSTEOGENESIS IMPERFECTA, TYPE XVI"
"EPILEPSY, PROGRESSIVE MYOCLONIC, 8"
"MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
LONG QT SYNDROME 14
LETHAL CONGENITAL CONTRACTURE SYNDROME 6
"Caused by mutation in the zinc finger- and BTB domain-containing protein-42 (ZBTB42, 613915.0001)"
LONG QT SYNDROME 15
MECKEL SYNDROME 12
Ureteral hypoplasia
TENORIO SYNDROME
"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET"
PEELING SKIN SYNDROME 3
ALBUMIN B PHENOTYPE
ANALBUMINEMIA BAGHDAD
"PROSTATE CANCER, SOMATIC"
"ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES"
"ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES"
"ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT"
ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
APOLIPOPROTEIN A-I (MILANO) PHENOTYPE
APOLIPOPROTEIN A-I (MARBURG) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER4) PHENOTYPE
APOLIPOPROTEIN A-I (GIESSEN) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3C) PHENOTYPE
APOLIPOPROTEIN A-I (MUNSTER3B) PHENOTYPE
APOLIPOPROTEIN A-I (BALTIMORE) PHENOTYPE
"AMYLOIDOSIS, CARDIAC AND CUTANEOUS"
"APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 PHENOTYPE"
"APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE"
APOE2-DUNEDIN PHENOTYPE
APOE3(-)-FREIBURG PHENOTYPE
APOE4 VARIANT PHENOTYPE
APOE2 VARIANT PHENOTYPE
APOE4(+) PHENOTYPE
"DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE"
"DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT"
"RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT"
SWANN BLOOD GROUP ANTIGEN PHENOTYPE
ACANTHOCYTOSIS DUE TO BAND 3 HT
"GERBICH BLOOD GROUP SYSTEM, GERBICH PHENOTYPE"
RHD CATEGORY D-VII
"RHD, WEAK D, TYPE I"
AGAMMAGLOBULINEMIA 3
"CARBONIC ANHYDRASE I, GUAM"
CARBONIC ANHYDRASE I DEFICIENCY
"EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE"
"OSTEOGENESIS IMPERFECTA, TYPE III/IV"
"OSTEOGENESIS IMPERFECTA, TYPE IIC"
"OSTEOGENESIS IMPERFECTA, TYPE I, MILD"
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
MARSHALL/STICKLER SYNDROME
"ESOPHAGEAL CARCINOMA, SOMATIC"
"MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO"
"ATRIAL FIBRILLATION, SOMATIC"
"CATARACT 9, AUTOSOMAL RECESSIVE"
"CATARACT 2, COPPOCK-LIKE"
"PORPHYRIA, ACUTE HEPATIC, DIGENIC"
"DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1"
DNA Ligase I Deficiency
"DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT"
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION
"DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT"
"ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE"
"VENOUS THROMBOSIS, SUSCEPTIBILITY TO"
"SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC"
"L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE"
"MARFAN SYNDROME, SEVERE CLASSIC"
"MARFAN SYNDROME, MILD VARIABLE"
Neonatal Marfan syndrome
"MARFAN SYNDROME, ATYPICAL"
"MARFAN SYNDROME, MILD"
"MARFAN SYNDROME, AUTOSOMAL RECESSIVE"
Fibrinogen dusart phenotype
"FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE"
CANCER PROGRESSION AND TUMOR CELL MOTILITY
"FMO3 ACTIVITY, DECREASED"
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
"HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC"
"ALCOHOLISM, SUSCEPTIBILITY TO"
"GLUCOCORTICOID RESISTANCE, CELLULAR"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET"
"PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS"
"ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE"
"VENTRICULAR TACHYCARDIA, SOMATIC"
MOYAMOYA 6 WITH ACHALASIA
"ALPHA-THALASSEMIA-2, NONDELETIONAL"
"ALPHA-THALASSEMIA, HMONG TYPE"
HEMOGLOBIN HOUSTON PHENOTYPE
"DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE"
DELTA-PLUS-THALASSEMIA
"HIV-1 VIREMIA, SUSCEPTIBILITY TO"
"BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO"
"IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF"
INFLAMMATORY BOWEL DISEASE 28
AGAMMAGLOBULINEMIA 1
"ATOPIC ASTHMA, SUSCEPTIBILITY TO"
AGAMMAGLOBULINEMIA 6
GASTRIC CANCER SUSCEPTIBILITY AFTER H. PYLORI INFECTION
"GLIOBLASTOMA MULTIFORME, SOMATIC"
"ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC"
"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA"
"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS"
"HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL"
"LONG QT SYNDROME, BRADYCARDIA-INDUCED"
"LEYDIG HYPOPLASIA, TYPE I"
"EXFOLIATION SYNDROME, SUSCEPTIBILITY TO"
"SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN"
"SPINA BIFIDA, SUSCEPTIBILITY TO"
"DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS"
"CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC"
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
LEPTIN DYSFUNCTION
"BREAST CANCER, SOMATIC"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE"
PIEBALDISM WITH SENSORINEURAL DEAFNESS
"PIEBALDISM, PROGRESSIVE"
"POSTAXIAL POLYDACTYLY, TYPE A1/B"
"GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE"
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
PRB3S(CYS)
"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO"
"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY"
"TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF"
"HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB"
MYOKYMIA 1 WITH HYPOMAGNESEMIA
"OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO"
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
PFEIFFER SYNDROME VARIANT
"PFEIFFER SYNDROME, TYPE III"
"CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL"
"BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS"
"HYPERPRORENINEMIA, FAMILIAL"
"RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE"
"CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE"
"OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO"
"SEROTONIN TRANSPORTER ACTIVITY, INCREASED/DECREASED"
"ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL"
"OBESITY, ASSOCIATION WITH"
"ADRENOCORTICAL TUMOR, SOMATIC"
"LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB"
"COSTELLO SYNDROME, SEVERE"
"LUNG CANCER, SOMATIC"
"BLADDER CANCER, TRANSITIONAL CELL, SOMATIC"
"COLON CANCER, ADVANCED, SOMATIC"
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1
TRIOSEPHOSPHATE ISOMERASE MANCHESTER
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH FRONTOTEMPORAL DEMENTIA
"TNF RECEPTOR BINDING, ALTERED"
"VASCULAR DEMENTIA, SUSCEPTIBILITY TO"
"HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO"
"RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS"
"DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE"
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
"BARDET-BIEDL SYNDROME 1/7, DIGENIC"
"MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO"
"GLUTARIC ACIDEMIA IIC, LATE-ONSET"
"MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II"
"MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB"
GHOSAL HEMATODIAPHYSEAL SYNDROME
"NEPHROLITHIASIS, X-LINKED RECESSIVE"
"MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE"
"CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL"
"VACTERL ASSOCIATION, X-LINKED"
IFAP SYNDROME
"DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE"
INTERMEDIATE MUSCULAR DYSTROPHY
"WISKOTT-ALDRICH SYNDROME, ATTENUATED"
"PELIZAEUS-MERZBACHER DISEASE, CONNATAL"
"PELIZAEUS-MERZBACHER DISEASE, MILD"
"TN POLYAGGLUTINATION SYNDROME, SOMATIC"
"EXUDATIVE VITREORETINOPATHY, X-LINKED"
"THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA"
"THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA"
G6PD TOMAH PHENOTYPE
"RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS"
"ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER"
"THYROXINE-BINDING GLOBULIN, SLOW"
"THYROXINE-BINDING GLOBULIN, CHICAGO"
PARKINSONISM/MELAS OVERLAP SYNDROME
"SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC"
CYTOCHROME c OXIDASE I DEFICIENCY
SEIZURES AND LACTIC ACIDOSIS
MYOTONIC DYSTROPHY-LIKE MYOPATHY
"OPHTHALMOPLEGIA, ISOLATED"
"MITOCHONDRIAL MYOPATHY, ISOLATED"
"DYSTONIA, MITOCHONDRIAL"
"MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS"
SENSORINEURAL DEAFNESS AND MIGRAINE
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
"CARDIOMYOPATHY, FATAL"
CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH"
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
CARDIOMYOPATHY AND DEAFNESS
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
"MYOPATHY, MITOCHONDRIAL, LATE-ONSET"
"EPILEPSY, MITOCHONDRIAL"
MERFF SYNDROME
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
"EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA"
"CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS"
"NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL"
"ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL"
"EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC"
"ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS"
"TANGIER DISEASE, VARIANT"
"METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT"
"ATRIAL STANDSTILL 1, DIGENIC"
"CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS"
"SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE"
"ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY"
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
"PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF"
"MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE"
"MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT"
"PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO"
"DIABETES, TYPE II, SUSCEPTIBILITY TO"
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
"INSULIN RESISTANCE, SEVERE, DIGENIC"
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
"HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY"
"EPISODIC ATAXIA, TYPE 2, AND EPILEPSY"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS"
"RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE"
"ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS"
"SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF"
IMMUNODEFICIENCY 32B
"SCHWANNOMATOSIS 1, SOMATIC"
"FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE"
"SPINAL MUSCULAR ATROPHY, MODIFIER OF"
"GLAUCOMA 1, OPEN ANGLE, A, DIGENIC"
ANTERIOR SEGMENT ANOMALIES AND CATARACT
BRANCHIOOTORENAL SYNDROME WITH CATARACT
"ASTHMA AND ATOPY, SUSCEPTIBILITY TO"
"GLAUCOMA, EARLY-ONSET, DIGENIC"
"OBESITY, SEVERE, AND TYPE II DIABETES"
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
"OBESITY, LATE-ONSET"
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
"PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO"
COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY
"INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS"
"MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO"
"RHABDOMYOSARCOMA, SOMATIC"
"LYMPHOMA, SOMATIC"
ALDH9A1*2 POLYMORPHISM
"WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET"
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS
"MEGALOBLASTIC ANEMIA 1, FINNISH TYPE"
"COLON CANCER, SUSCEPTIBILITY TO"
"CITRULLINEMIA, MILD"
"LUMBAR DISC DISEASE, SUSCEPTIBILITY TO"
"EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT"
"EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE"
"EXUDATIVE VITREORETINOPATHY 4, DIGENIC"
"ADENOCARCINOMA, COLONIC, SOMATIC"
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
"MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE"
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
"ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC"
"SPASTIC PARAPLEGIA 4, MODIFIER OF"
"OBESITY, MILD, EARLY-ONSET"
"CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO"
"NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO"
"HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO"
"HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC"
"BARDET-BIEDL SYNDROME 2/6, DIGENIC"
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
"T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS"
"CHONDROCALCINOSIS 2, SPORADIC"
"DYSTONIA 1, TORSION, LATE-ONSET"
"OBESITY, AGE AT ONSET OF"
"CEREBRAL INFARCTION, SUSCEPTIBILITY TO"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF"
"AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE"
"MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE"
"BREAST CANCER, EARLY-ONSET"
"BARDET-BIEDL SYNDROME 1/2, DIGENIC"
"HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO"
"KAWASAKI DISEASE, SUSCEPTIBILITY TO"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5"
"NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE"
"GLYCOGEN STORAGE DISEASE II, ADULT FORM"
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
"HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO"
"COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR"
"GM2-GANGLIOSIDOSIS, CHRONIC"
"CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE"
"CHEDIAK-HIGASHI SYNDROME, ADULT TYPE"
"GALACTOSE EPIMERASE DEFICIENCY, SEVERE"
"ISOVALERIC ACIDEMIA, TYPE I"
"CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED"
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
Autosomal dominant keratitis
"ANIRIDIA, ATYPICAL"
FOVEAL HYPOPLASIA 1 WITH CATARACT
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
"CATARACT 18, AUTOSOMAL RECESSIVE"
"PSORIASIS 2, PUSTULAR"
"SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10"
"SCHWANNOMATOSIS, SOMATIC"
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
"CYSTIC PARATHYROID ADENOMA, SOMATIC"
"UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO"
"LONG QT SYNDROME 1, RECESSIVE"
ARYLSULFATASE A PSEUDODEFICIENCY
"METACHROMATIC LEUKODYSTROPHY, LATE-ONSET"
"METACHROMATIC LEUKODYSTROPHY, SEVERE"
"ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE"
"ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE"
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
"NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM"
"NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM"
"HOMOCYSTEINE, TOTAL PLASMA, ELEVATED"
"GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC"
"GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC"
"GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR"
ADULT POLYGLUCOSAN BODY NEUROPATHY
"CANAVAN DISEASE, MILD"
SPONDYLOCOSTAL DYSOSTOSIS 4
APOLIPOPROTEIN C-II (PARIS) PHENOTYPE
APOLIPOPROTEIN C-II (BARI) PHENOTYPE
APOLIPOPROTEIN C-II VARIANT PHENOTYPE
APOLIPOPROTEIN C-II (SAN FRANCISCO)
apolipoprotein C-II (Wakayama) phenotype
APOLIPOPROTEIN C-II (AUCKLAND) PHENOTYPE
"MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA"
"MCARDLE DISEASE, MILD"
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
"MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO"
"TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE"
"SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE"
"PSEUDOFOLLICULITIS BARBAE, SUSCEPTIBILITY TO"
"BARDET-BIEDL SYNDROME 14, MODIFIER OF"
"DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49"
FACTOR XII (LOCARNO) PHENOTYPE
"MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF"
CARBONIC ANHYDRASE II VARIANT
"MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE"
"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION"
"EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS"
"FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO"
factor V Hong Kong phenotype
"SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE"
"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY"
"COPROPORPHYRIA, DIGENIC"
BLOOD GROUP--LUTHERAN NULL
"GALACTOSIALIDOSIS, LATE INFANTILE"
"GALACTOSIALIDOSIS, ADULT"
"GALACTOSIALIDOSIS, EARLY INFANTILE"
"VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO"
"ASPARTYLGLUCOSAMINURIA, FINNISH TYPE"
HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
"HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE"
"BARDET-BIEDL SYNDROME 12, MODIFIER OF"
"MECKEL SYNDROME, TYPE 6, MODIFIER OF"
"DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE"
"DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE"
"LIPOMA, SOMATIC"
"ANGIOFIBROMA, SOMATIC"
"ADRENAL ADENOMA, SOMATIC"
"JK-NULL VARIANT, FINNISH TYPE"
"APPARENT MINERALOCORTICOID EXCESS, MILD"
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES"
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
CERULOPLASMIN BELFAST PHENOTYPE
BETA-KNOSSOS-THALASSEMIA
BETA-MALAY-THALASSEMIA
BETA-SHOWA-YAKUSHIJI THALASSEMIA
"BETA-PLUS-THALASSEMIA, DOMINANT"
"BETA-THALASSEMIA, LERMONTOV TYPE"
GREEK HPFH PHENOTYPE
BRITISH HPFH PHENOTYPE
"ALLERGIC RHINITIS, SUSCEPTIBILITY TO"
"C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL"
FACTOR VIII (EAST HARTFORD) PHENOTYPE
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED"
"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF"
"HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE"
LPL-ARITA PHENOTYPE
LIPOPROTEIN LIPASE (OLBIA) PHENOTYPE
VON WILLEBRAND FACTOR VICENZA PHENOTYPE
"ALDOSTERONE-PRODUCING ADRENAL ADENOMA, SOMATIC"
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
"BARDET-BIEDL SYNDROME 6/10, DIGENIC"
"VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO"
APOLIPOPROTEIN A-I (NORWAY) PHENOTYPE
"HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF"
"METACHROMATIC LEUKODYSTROPHY, MILD"
Abnormal fear/anxiety-related behavior
J wave
Pituitary growth hormone cell adenoma
Abnormality of the respiratory system
Unilateral Breast Neoplasms
Intestinal obstruction co-occurrent and due to decreased peristalsis
Speech Sound Disorders
Antiphospholipid antibody positivity
Insertional polydactyly
Abnormality of peripheral nerve conduction
Congenital dermal melanocytosis
Cystic lung lesion
Sertoli cell neoplasm
Glomerulocystic kidney disease
Wide nasal ridge
Increased intramyocellular lipid droplets
Mitochondrial abnormalities
Elevated urinary vanillylmandelic acid
Elevated urinary homovanillic acid
Clinodactyly of the 4th toe
Intimal fibrosis
Abnormality of fontanelles
Hypoplasia of the premaxilla
maternal hyperglycemia
Subcoronal hypospadias
Xy female gonadal dysgenesis
Abnormal sperm development
Medullary sponge kidney disease
"Microtia, second degree"
Decreased activity of mitochondrial complex IV
Abnormal type II collagen
Agenesis of incisor
Irregular capital femoral epiphysis
Neonatal hemolytic anemia
Increased spinal bone density
Abnormality of pelvic girdle bone morphology
Aneurysmal disease
Neuro-degenerative disease
Abnormality of abdomen morphology
Abnormality of the hip joint
Anxiety disease
Genitourinary dysplasia
Overactive bladder syndrome
Abnormality of the upper limb
Abnormal urine alpha-ketoglutarate concentration
Myelin tomacula
Metaphyseal dappling
Hypointensity of cerebral white matter on MRI
Herpetiform corneal ulceration
Flared humeral metaphysis
Absent fifth fingernail
Dysharmonic bone age
Dense metaphyseal bands
Enlarged interhemispheric fissure
Enlarged fossa interpeduncularis
Sclerosis of finger phalanx
Abnormality of the ductus choledochus
Plantar telangiectasia
Palmar telangiectasia
Abnormal emotion/affect behavior
Pointed helix
Fingernail dysplasia
Abnormality of vertebral epiphysis morphology
Abnormal trabecular bone morphology
Rough bone trabeculation
Abnormal pigmentation of the oral mucosa
Abnormality of nail color
Displacement of the external urethral meatus
Enlarged thorax
Absent nares
Cardiac diverticulum
Abnormally ossified vertebrae
Abnormal localization of kidney
Inflammatory abnormality of the eye
Abnormality of lower limb joint
Short middle phalanx of the 4th toe
Short distal phalanx of the 5th toe
Non-midline cleft lip
Muscle fiber tubular inclusions
Synostosis of carpals/tarsals
Abnormal tendon morphology
Abnormality of the medullary cavity of the long bones
Pseudo-fractures
Conspicuously happy disposition
Type III lissencephaly
Abnormal motor nerve conduction velocity
Abnormal vitamin B12 level
Abnormal natural killer cell count
Abnormal circulating renin
Freckled genitalia
Maternal fever in pregnancy
Accumulation of muscle fiber desmin
Increased jitter at single fibre EMG
Impaired visually enhanced vestibulo-ocular reflex
Dilated superficial abdominal veins
Reduced muscle collagen VI
Absent muscle fiber merosin
Abnormal lower-limb motor evoked potentials
Hyperplastic labia majora
Fullness of paranasal tissue
Narrow jaw
Kinked brainstem
Absent mastoid
Agenesis of canine
Morphological abnormality of the gastrointestinal tract
Iron accumulation in brain
Absent nail of hallux
Fatty replacement of skeletal muscle
Aplasia of optic nerve
Abnormality of brain morphology
Abnormal biliary tract morphology
Abnormal social behavior
Prominent calcaneus
Decreased serum complement C9
Type II transferrin isoform profile
Abnormal hypothalamus morphology
Abnormal reproductive system morphology
Reduced prothrombin activity
Abnormal natural killer cell morphology
Orthostatic tachycardia
Increased fibular diameter
Abnormality of exocrine pancreas physiology
Elevated coagulation factor V activity
Non-obstructive azoospermia
Anterior wedging of T12
Short 5th toe
Abnormal T cell count
Tented philtrum
Adrenocorticotropic hormone excess
Secretory adrenocortical adenoma
Supraventricular tachycardia with an accessory connection mediated pathway
Left ventricular noncompaction cardiomyopathy
Hyperpigmentation of the fundus
Abnormality of the medulla oblongata
Abnormal CNS myelination
Enlarged cochlear aqueduct
Enlarged semicircular canal
Generalized abnormality of skin
Facial shape deformation
Posterior plagiocephaly
Multiple suture craniosynostosis
Bicoronal synostosis
Abnormality of long bone morphology
Bridged palmar crease
Tapered toe
Slender toe
Partial absence of toe
Prominent tragus
"Microtia, third degree"
"Microtia, first degree"
Absent crus of helix
Underdeveloped antitragus
Prominent superior crus of antihelix
Underdeveloped superior crus of antihelix
Underdeveloped inferior crus of antihelix
EEG with focal epileptiform discharges
Agenesis of molar
Chromosomal breakage induced by ionizing radiation
Abnormal B cell count
EEG with periodic lateralized epileptiform discharges
EEG with persistent abnormal rhythmic activity
EEG with generalized slow activity
Multifocal epileptiform discharges
Impaired tactile sensation
Impaired temperature sensation
Abnormality of the twelfth cranial nerve
Abnormality of the eleventh cranial nerve
Underdeveloped nasolabial fold
Gonadal neoplasm
Low insertion of columella
Ectopic lacrimal punctum
Absent metatarsal bone
2-4 toe syndactyly
1-5 toe syndactyly
2-4 finger syndactyly
Elevated tissue non-specific alkaline phosphatase
Abnormal foot bone ossification
Hypoplasia of the zygomatic bone
Abnormality of thalamus morphology
Abnormal hand bone ossification
Patchy variation in bone mineral density
Abnormal epiphyseal ossification
Anterior pituitary agenesis
Intracranial cystic lesion
Dysplasia of the femoral head
Abnormality of the epiphysis of the femoral head
Undulate clavicles
Cutaneous finger syndactyly
Weakness due to upper motor neuron dysfunction
Aplasia of the tarsal bones
Limitation of knee mobility
Long metacarpals
Absent palmar crease
Abnormal ventricular septum morphology
Curved 4th toe phalanx
Flexion contracture of the 4th toe
Flexion contracture of the 2nd toe
Abnormality of dentin
Prominent palatine ridges
Ivory epiphyses of the distal phalanges of the hand
Aplasia of the proximal phalanges of the hand
Small epiphyses of the phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the toes
Curved toe phalanx
Mesoaxial foot polydactyly
Short distal phalanx of hallux
Complete duplication of hallux phalanx
Partial duplication of the distal phalanx of the hallux
Broad proximal phalanx of the hallux
Broad hallux phalanx
Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 2nd finger
Duplication of thumb phalanx
Attached earlobe
Cleft helix
Prominent crus of helix
Abnormality of the crus of the helix
Broad middle phalanx of finger
Abnormality of the elbow
Abnormality of upper limb joint
Symphalangism affecting the phalanges of the hand
Broad phalanges of the hand
Fibrous syngnathia
Spinalarachnoid cyst
Abnormality of the antihelix
Synostosis involving the 1st metacarpal
Metacarpal synostosis
Finger symphalangism
Absent proximal phalanx of thumb
Abnormality of the proximal phalanx of the thumb
Abnormality of the distal phalanx of the thumb
Complete duplication of distal phalanx of the thumb
Short proximal phalanx of the 2nd finger
Abnormality of the vestibulocochlear nerve
Triangular shaped proximal phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
Short distal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Pseudoepiphyses of the 2nd finger
Contracture of the proximal interphalangeal joint of the 3rd finger
Deviation of the 2nd finger
Short 3rd finger
Short middle phalanx of the 3rd finger
Pseudoepiphyses of the 3rd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Short middle phalanx of the 4th finger
Short distal phalanx of the 4th finger
Short proximal phalanx of the 5th finger
Deviation of the 5th finger
Abnormal cerebral artery morphology
Depletion of mitochondrial DNA in muscle tissue
Upper limb amyotrophy
Abnormal adipose tissue morphology
Abnormal pelvis bone ossification
Exercise-induced rhabdomyolysis
Abdominal wall muscle weakness
Pelvic girdle amyotrophy
Laryngeal cartilage malformation
Hypertrophy of the urinary bladder
Abnormality of the stapes
Severe sensorineural hearing impairment
Adult onset sensorineural hearing impairment
Infantile sensorineural hearing impairment
Mild conductive hearing impairment
Congenital conductive hearing loss
Mild neurosensory hearing impairment
Posterior helix pit
Anterior beaking of lumbar vertebrae
Recurrent loss of toenails and fingernails
Abnormal mitochondria in muscle tissue
Neutrophil inclusion bodies
Adrenocorticotropin receptor defect
Euthyroid hyperthyroxinemia
Elevated circulating follicle stimulating hormone level
Absence of secondary sex characteristics
Asymptomatic hyperammonemia
Periodic hypokalemic paresis
Irregular tarsal ossification
Clinodactyly of the 3rd toe
Enlarged flash visual evoked potentials
Retinitis pigmentosa inversa
Posterior Y-sutural cataract
Electronegative electroretinogram
Retinal nonattachment
Hypoplasia of the lacrimal punctum
Punctate opacification of the cornea
Progressive cataract
Central heterochromia
Cortical pulverulent cataract
Central retinal vessel vascular tortuosity
Undetectable light- and dark-adapted electroretinogram
Abnormal vestibulo-ocular reflex
Excessive wrinkling of palmar skin
Patchy hypo- and hyperpigmentation
Decreased number of sweat glands
Diffuse palmoplantar hyperkeratosis
Abnormality of somatosensory evoked potentials
Chronic axonal neuropathy
Progressive extrapyramidal muscular rigidity
Distal upper limb amyotrophy
Distal peripheral sensory neuropathy
Impaired distal tactile sensation
Frontotemporal cerebral atrophy
Impaired distal proprioception
Absent glenoid fossa
Reduced number of intrahepatic bile ducts
Unilateral primary pulmonary dysgenesis
Abnormality of primary teeth
Delayed patellar ossification
Distal tibial bowing
Flat distal femoral epiphysis
Premature eruption of permanent teeth
Widely spaced primary teeth
Shortening of all middle phalanges of the toes
Mesoaxial hand polydactyly
Proximal symphalangism of hands
Shortening of all distal phalanges of the fingers
Delayed phalangeal epiphyseal ossification
Bilateral lung agenesis
Abnormality of epiphysis morphology
Abnormal metacarpal morphology
Polysyndactyly of hallux
Clinodactyly of the 2nd toe
Absent fourth finger distal interphalangeal crease
2-4 toe cutaneous syndactyly
Neonatal epiphyseal stippling
Osteosclerosis of the base of the skull
Spinal stenosis with reduced interpedicular distance
Lethal skeletal dysplasia
Bilateral triphalangeal thumbs
Absent ossification of calvaria
Broad long bones
Abnormal tracheobronchial morphology
Facial telangiectasia in butterfly midface distribution
Patchy palmoplantar keratoderma
Abnormality of bone marrow cell morphology
Decreased serum complement factor B
Abnormality of the nares
Absent nasal septal cartilage
Intestinal hypoplasia
Absence of intrinsic factor
Abnormality of the Achilles tendon
Impairment of galactose metabolism
Prolonged bleeding after surgery
Fava bean-induced hemolytic anemia
Short fifth metatarsal
Short third metatarsal
Hypoplasia of the nasal bone
Anterior wedging of T11
Generalized hypotrichosis
Precocious atherosclerosis
Abnormality of the sense of smell
Abnormality of bone mineral density
Abnormality of vitamin B12 metabolism
Abnormal macrophage morphology
Abnormal endocardium morphology
Abnormality of muscle fibers
Abnormality of the abdominal wall
Symphalangism of the 5th finger
Short distal phalanx of the 3rd finger
Sclerosis of hand bone
Ulnar metaphyseal irregularity
Radial metaphyseal irregularity
Hypoplastic radial head
Epiphyseal stippling of the humerus
Short middle phalanx of toe
Cytochrome C oxidase-negative muscle fibers
Reduced activity of N-acetylglucosaminyltransferase II
EMG: myopathic abnormalities
EMG: neuropathic changes
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Increased VLDL cholesterol concentration
Junctional split
Pyrimidine-responsive megaloblastic anemia
Reduced prothrombin consumption
Hyperlysinuria
Abnormality of mitochondrial metabolism
Abnormality of the hip bone
Decreased methylcobalamin
Chromosomal breakage induced by crosslinking agents
Abnormality of the pubic bone
Abnormality of the acetabulum
Increased circulating ACTH level
Abnormal cortical bone morphology
Abnormality of the humerus
Abnormality of the wrist
Abnormality of the musculature
Abnormality of the ilium
Specific anti-polysaccharide antibody deficiency
Abnormal B cell morphology
Cystic angiomatosis of bone
Abnormality of femur morphology
Recurrent Klebsiella infections
Recurrent Aspergillus infections
Abnormality of the immune system
Abnormality of the sella turcica
Abnormality of midbrain morphology
Thickened superior cerebellar peduncle
EEG with polyspike wave complexes
Delayed CNS myelination
Generalized myoclonic seizures
Abnormal lung morphology
Morphological abnormality of the pyramidal tract
Abnormality of the cerebrum
Abnormality of the glabella
Morphological abnormality of the central nervous system
Reduced lymphocyte surface expression of CD43
Decreased platelet glycoprotein IIb-IIIa
Abnormality of metabolism/homeostasis
Short 2nd toe
Clinodactyly of toe
Short distal phalanx of toe
Bifid distal phalanx of toe
Camptodactyly of toe
High-frequency sensorineural hearing impairment
Abnormality of the voice
Abnormality of the larynx
Abnormality of the calf musculature
Abnormality of the liver
Abnormal nervous system electrophysiology
Interphalangeal joint contracture of finger
Abnormality of the metacarpal bones
Atypical scarring of skin
Abnormal diaphysis morphology
Abnormality of the vertebral column
Abnormality of the skeletal system
Abnormality of the clavicle
Abnormality of the adrenal glands
Abnormality of Krebs cycle metabolism
Renal steatosis
Abnormality of the thorax
Impaired use of nonverbal behaviors
Restrictive behavior
Abnormality of dental enamel
Lacrimation abnormality
Abnormal eyelid morphology
Abnormality of the nasal alae
Abnormality of the nasal bridge
Prelingual sensorineural hearing impairment
Abnormality of the auditory canal
Abnormality of earlobe
Abnormal location of ears
Abnormality of the midface
Abnormality of the head
Oral cleft
Accessory oral frenulum
Abnormal palate morphology
Abnormality of the gingiva
Abnormality of head or neck
Abnormality of the ovary
Abnormality of reproductive system physiology
Abnormality of the urinary system
Abnormality of female external genitalia
"Ambiguous genitalia, male"
Postaxial polysyndactyly of foot
Advanced pneumatization of the mastoid process
Narrow nail
Bilateral camptodactyly
Hypohidrosis or hyperhidrosis
Abnormal parietal bone morphology
Sacral lipoma
Atypical nevi in non-sun exposed areas
Abnormal dense granule content
Oromotor apraxia
Abnormal cartilage collagen
Conjunctival hamartoma
Increased sensitivity to ionizing radiation
Reduction of oligodendroglia
Speckled corneal dystrophy
Absent epiphyses
Long distal phalanx of finger
obsolete Abnormal heart morphology
Abnormality of the frontal bone
Tall chin
Agenesis of maxillary incisor
Agenesis of lateral incisor
Increased serum bile acid concentration during pregnancy
Abnormal liver function tests during pregnancy
Bilateral choanal atresia/stenosis
Atrial cardiomyopathy
Absent fifth toenail
Nonprogressive visual loss
Upper limb hypertonia
Premature chromatid separation
Short corpus callosum
Abnormal size of the palpebral fissures
Splayed epiphyses
Narrow foramen obturatorium
Abnormality of the xiphoid process
Abnormality of globe size
Poorly ossified vertebrae
Aplasia/Hypoplasia of the eyebrow
Recurrent cutaneous abscess formation
Round ear
Increased T cell count
Genital hernia
Lip hyperpigmentation
Abnormality of the periungual region
Pancreatic aplasia
Aplasia/Hypoplasia of the pancreas
Abnormally straight spine
Peripheral arteriovenous fistula
Urogenital sinus anomaly
Cartilage destruction
Abnormality of the tonsils
Abnormality of the lymphatic system
Visceral angiomatosis
Abnormality of salivation
Muscular edema
Abnormal eating behavior
Abnormal soft palate morphology
Germ cell neoplasia
Hypoplasia of the ear cartilage
Abnormality of the lumbar spine
Abnormality of the thoracic spine
Abnormality of the astrocytes
Lack of skin elasticity
Abnormality of the cerebral vasculature
Thoracoabdominal wall defect
Erectile abnormalities
Carotid paraganglioma
Midline facial cleft
Maternal seizures
Leydig cell neoplasia
Death in early adulthood
Multiple glomerular cysts
Maternal hyperphenylalaninemia
Calcification of cartilage
Abnormality of the preputium
Telangiectasia of the skin
Mucosal telangiectasiae
Upper limb asymmetry
Asymmetric growth
Neoplasia of the pleura
Abnormality of vitamin E metabolism
Abnormality of vitamin D metabolism
Abnormality of vitamin metabolism
Hypoammonemia
Aplasia of the middle phalanges of the toes
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia of the phalanges of the 3rd toe
Tibial deviation of the 5th toe
Tibial deviation of the 2nd toe
Unilateral cleft palate
Abnormality of the dentate nucleus
Cerebral cortical hemiatrophy
Cerebellar hemisphere hypoplasia
Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber inclusion bodies
Motheaten muscle fibers
Increased endomysial connective tissue
Amyloidosis of peripheral nerves
Abnormality of central somatosensory evoked potentials
EMG: myokymic discharges
EMG: impaired neuromuscular transmission
EMG: myotonic discharges
Periauricular skin pits
Hyponasal speech
Upper lip pit
Stenosis of the medullary cavity of the long bones
Meningeal calcification
Fragmented epiphyses
Broad 2nd toe
Overfriendliness
Recurrent hand flapping
Posterior capsular cataract
Early onset of sexual maturation
Abnormality of the mediastinum
Congenital malformation of the left heart
Abnormality of the substantia nigra
Elevated urinary 3-hydroxybutyric acid
Dicarboxylic acidemia
Degeneration of the striatum
Abnormal transferrin saturation
Abnormal sensory nerve conduction velocity
Unilateral conductive hearing impairment
Bilateral external ear deformity
Abnormality of the tympanic membrane
Abnormal prolactin level
Abnormal morphology of ulna
Abnormality of upper limb bone
Decreased adipose tissue
Abnormality of the right hemidiaphragm
Onychogryposis of fingernail
Chorioretinal hyperpigmentation
Chorioretinal hypopigmentation
Clinodactyly of the 4th finger
Clinodactyly of the 2nd finger
Prominent coccyx
Increased mitochondrial number
Decreased mitochondrial number
Small posterior fossa
Multinucleated giant chondrocytes in epiphyseal cartilage
Decreased osteoclast count
Cervicomedullary schisis
Lower extremity joint dislocation
Hypoplastic anterior commissure
Triangular tongue
Cervical C3/C4 vertebral fusion
Accessory scrotum
Reduced red cell adenosine deaminase activity
"Reduced erythrocyte 2,3-diphosphoglycerate concentration"
Elevated red cell adenosine deaminase activity
Hyperplastic callus formation
Wide penis
Hyperpigmented genitalia
Large intestinal polyposis
Defective T cell proliferation
Splanchnic vein thrombosis
Maternal first trimester fever
Abnormality of muscle size
Central core regions in muscle fibers
Abnormal muscle fiber myotilin
Limb apraxia
Inertia
Slow pupillary light response
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Favorable response of weakness to acetylcholine esterase inhibitors
Fatiguable weakness of proximal limb muscles
Fatigable weakness of neck muscles
Fatigable weakness of distal limb muscles
Fatigable weakness of skeletal muscles
Fatigable weakness of respiratory muscles
Fatigable weakness of swallowing muscles
Fatigable weakness of speech muscles
Fatigable weakness of bulbar muscles
Oral motor hypotonia
Tremor by anatomical site
Tetraplegia/tetraparesis
Peripheral amyelination
Glomerulomegaly
Abnormal liver parenchyma morphology
Lack of bowel sounds
Oral cavity bleeding
Excessive bleeding from superficial cuts
Prolonged bleeding following circumcision
Absent muscle fiber calpain-3
Absent muscle fiber emerin
Absent muscle fiber dysferlin
Reduced muscle fiber alpha dystroglycan
Abnormal muscle fiber dystrophin expression
Reduced muscle fiber merosin
Abnormal muscle fiber protein expression
Abnormal drinking behavior
Punctate periventricular T2 hyperintense foci
Mitochondrial depletion
Autoimmune antibody positivity
Hyperconvex toenail
Abnormality of lateral ventricle
Fused thoracic vertebrae
Isothenuria
Partial absence of foot
Small toe
Auricular tag
Increased female libido
Decreased female libido
Female anorgasmia
Lagopthalmos
Cold-sensitive myotonia
Myotonia of the upper limb
Myotonia of the lower limb
Myotonia of the jaw
Myotonia of the face
Abnormal motor evoked potentials
Neck muscle hypertrophy
Facial muscle hypertrophy
Posteriorly placed anus
Abnormality of the labia majora
Acephalic spermatozoa
Sperm tail anomaly
Sperm mid-piece anomaly
Sperm head anomaly
Abnormal male germ cell morphology
Abnormal scrotal rugation
Midshaft hypospadias
Hypoplastic female external genitalia
Bilateral breast hypoplasia
Narrow nasal base
Retinal astrocytic hamartoma
Stellate iris
Abnormal upper to lower segment ratio
Increased arm span
Widened cerebral subarachnoid space
Cerebral white matter atrophy
Impaired social reciprocity
Neurodevelopmental abnormality
Neurodevelopmental delay
Abnormal neuron morphology
T2 hypointense basal ganglia
Focal T2 hypointense basal ganglia lesion
Abnormal basal ganglia MRI signal intensity
Focal T2 hypointense brainstem lesion
Focal T2 hyperintense brainstem lesion
Abnormal brainstem MRI signal intensity
Thin fingernail
Ectopic anterior pituitary gland
Episodic hypokalemia
Functional abnormality of the gastrointestinal tract
Profound hearing impairment
Moderate hearing impairment
Mild hearing impairment
Reduced brain N-acetyl aspartate level by MRS
Elevated brain lactate level by MRS
Elevated brain choline level by MRS
Abnormal metabolic brain imaging by MRS
Abnormality of the subarachnoid space
Abnormal large intestine physiology
Cerebellar gliosis
Small basal ganglia
Abnormal thalamic MRI signal intensity
Decreased thalamic volume
Focal T2 hyperintense thalamic lesion
Focal T2 hypointense thalamic lesion
Iron accumulation in substantia nigra
Iron accumulation in globus pallidus
Reduced ejection fraction
Parietal hypometabolism in FDG PET
Abnormal brain FDG positron emission tomography
Elevated CSF dopamine level
Foveal hypopigmentation
Cerebellar agenesis
Abnormality of nervous system morphology
Abnormality of nervous system physiology
Iris hypoperfusion
Pseudoexfoliation
Abnormal urine sodium concentration
Abnormal urine potassium concentration
Heavy proteinuria
Mild proteinuria
Decreased T3/T4 ratio
Increased T3/T4 ratio
EEG with centrotemporal focal spike waves
Absent thumbnail
Hypoplastic thumbnail
Absent neutrophil specific granules
Abnormal involuntary eye movements
Skewed maternal X inactivation
Reduced aldolase level
Elevated aldolase level
Maternal anticardiolipin antibody positive
Abnormal alpha granule content
Absence of alpha granules
Abnormal platelet shape
Spider hemangioma
Abnormal circle of Willis morphology
Reduced catalase activity
Extra-axial cerebrospinal fluid accumulation
Reduced thyroxin-binding globulin
Small pituitary gland
Abnormal size of pituitary gland
Descending aortic dissection
Reduced maximal inspiratory pressure
Suprasellar arachnoid cyst
Vocal tremor
Specific pneumococcal antibody deficiency
Elevated hepatic iron concentration
Elevated transferrin saturation
Medial calcification of medium-sized arteries
Bilateral wrist flexion contracture
Low CSF 5-methyltetrahydrofolate
Delayed social development
Cerebral white matter hypoplasia
Excessive femoral anteversion
Increased urine alpha-ketoglutarate concentration
Abnormal aldolase level
Appendicular hypotonia
Abnormal enzyme/coenzyme activity
Abnormal eye physiology
Abnormal eye morphology
Decreased sialylation of O-linked protein glycosylation
Abnormal protein O-linked glycosylation
Decreased galactosylation of N-linked protein glycosylation
Abnormal protein N-linked glycosylation
Abnormal glycosylation
Decreased resting energy expenditure
Slender proximal phalanx of finger
Slender distal phalanx of finger
Abnormality of the occipital bone
Hypothalamic luteinizing hormone-releasing hormone deficiency
Abnormal hypothalamus physiology
Small proximal tibial epiphyses
Small distal femoral epiphysis
Hyposerinemia
Hypoglycinemia
Increased carotid artery intimal medial thickness
Episodic upper airway obstruction
Decreased muscle glycogen content
Abnormal ciliary motility
Abnormal central microtubular pair morphology of respiratory motile cilia
Absent inner and outer dynein arms
Abnormal axonemal organization of respiratory motile cilia
Absent inner dynein arms
Absent outer dynein arms
Dynein arm defect of respiratory motile cilia
Abnormal respiratory system morphology
Sex reversal
Abnormal sex determination
Arachnoid hemangiomatosis
Nonmotile sperm
Recurrent vulvovaginal candidiasis
Increased serum bile acid concentration
Juvenile colonic polyposis
Increased erythrocyte protoporphyrin concentration
Constrictive median neuropathy
Hyperplastic colonic polyposis
Craniofacial dystonia
Abnormal natural killer cell physiology
Stereotypical body rocking
Stereotypical hand wringing
Subcortical cerebral atrophy
Single lineage myelodysplasia
Multiple lineage myelodysplasia
Reduced quantity of Von Willebrand factor
Abnormality of multiple cell lineages in the bone marrow
Abnormal megakaryocyte morphology
Granulocytic hyperplasia
Abnormal number of granulocyte precursors
Dysplastic granulopoesis
Abnormal granulocytopoietic cell morphology
Dysplastic erythropoesis
Abnormality of bone marrow stromal cells
Abnormal albumin level
Rhizomelic leg shortening
Parietal cortical atrophy
Abnormality of the mitochondrion
Intracranial epidermoid cyst
Abnormality of endocrine pancreas physiology
Abnormal mitochondrial shape
Abnormality of skeletal muscle fiber size
Ubiquitin-positive cerebral inclusion bodies
Cerebellar Purkinje layer atrophy
Abnormality of central motor conduction
Abnormality of acetylcarnitine metabolism
Chondroitin sulfate excretion in urine
Keratan sulfate excretion in urine
Increased urinary disaccharide excretion
Low serum calcitriol
Pectoralis amyotrophy
Sternocleidomastoid amyotrophy
Increased urinary cortisol level
Abnormality of ornithine metabolism
Hypergalactosemia
EEG with temporal focal spikes
EEG with parietal focal spikes
EEG with central focal spikes
EEG with generalized polyspikes
Impaired neutrophil bactericidal activity
Abnormality of neutrophil morphology
Abnormality of neutrophil physiology
Ectopic ossification in ligament tissue
Ectopic ossification in tendon tissue
Ectopic ossification in muscle tissue
Elevated urinary dopamine
Elevated circulating luteinizing hormone level
Elevated plasma citrulline
Intermittent painful muscle spasms
Obstructive azoospermia
Acute infectious pneumonia
Small vessel vasculitis
Anterior wedging of L2
3-4 finger cutaneous syndactyly
Hypoplastic fifth toenail
Decreased plasma total carnitine
Decreased urinary urate
Abnormality of the superior cerebellar peduncle
Abnormality of the cerebellar peduncle
Hypersegmentation of proximal phalanx of third finger
Short digit
Decreased activity of mitochondrial ATP synthase complex
Abnormal activity of mitochondrial respiratory chain
Toe extensor amyotrophy
Lumbar hypertrichosis
Shortening of all phalanges of fingers
Flattened metacarpal heads
Unilateral radial aplasia
Reduced alpha/beta synthesis ratio
Reduced beta/alpha synthesis ratio
Impaired thromboxane A2 agonist-induced platelet aggregation
Bleeding with minor or no trauma
Abnormal umbilical stump bleeding
Abnormal platelet granules
Acute disseminated intravascular coagulation
Decreased platelet glycoprotein Ib-IX-V
Impaired thrombin-induced platelet aggregation
Impaired ristocetin-induced platelet aggregation
Abnormality of the wing of the ilium
Elevated plasma pyrophosphate
Reduced factor IX activity
Abnormal bone ossification
Abnormality of skeletal morphology
Abnormality of T cell physiology
Partial IgA deficiency
Moyamoya phenomenon
Abnormal oral mucosa morphology
Chin with horizontal crease
Broad chin
Submucous cleft soft palate
Basal encephalocele
Increased cerebral lipofuscin
Paradoxical myotonia
Type 1 muscle fiber atrophy
Activating thyroid-stimulating hormone receptor defect
Thyroid hemiagenesis
Thyroid papillary adenoma
Abnormality of the parathyroid physiology
Neoplasm of the anterior pituitary
Glucocortocoid-insensitive primary hyperaldosteronism
Adrenocorticotropin deficient adrenal insufficiency
Abnormality of circulating cortisol level
Abnormality of central sensory function
Abnormal electrophysiology of sinoatrial node origin
Atrial reentry tachycardia
Interrupted inferior vena cava with azygous continuation
Patent ductus arteriosus after birth at term
Anomalous origin of coronary artery from the pulmonary artery
Congenital defect of the pericardium
Congenitally corrected transposition of the great arteries with ventricular septal defect
Left aortic arch with retroesophageal right subclavian artery
Short chordae tendineae of the mitral valve
Transitional atrioventricular canal defect
Partial defect of atrioventricular canal
Imperforate tricuspid valve
Cleft anterior mitral valve leaflet
Dichromacy
Macular schisis
Macular flecks
Central opacification of the cornea
Abnormality of corneal stroma
Abnormal Descemet membrane morphology
Abnormal corneal endothelium morphology
Abnormality of corneal thickness
Profound sensorineural hearing impairment
Childhood onset sensorineural hearing impairment
Gastrostomy tube feeding in infancy
Nasogastric tube feeding in infancy
Aplasia/Hypoplasia of the gallbladder
Aganglionosis of the small intestine
Hyposegmentation of neutrophil nuclei
Abnormality of higher mental function
Abnormality of coordination
Maternal teratogenic exposure
Maternal autoimmune disease
Abnormal maternal serum screening
Abnormality of placental membranes
Moderate intrauterine growth retardation
Proportionate tall stature
Demyelinating sensory neuropathy
Delayed peripheral myelination
Tibialis atrophy
Abnormality of the dorsal column of the spinal cord
Abnormality of the cochlear nerve
Morphological abnormality of the inner ear
Narrow internal auditory canal
Aplasia of the semicircular canal
Morphological abnormality of the semicircular canal
Dilated vestibule of the inner ear
Incomplete partition of the cochlea
Recurrent viral skin infections
Patchy hypopigmentation of hair
Abnormality of hair growth rate
Abnormal hair quantity
Congenital abnormal hair pattern
Generalized hypopigmentation of hair
Abnormality of hair density
Regional abnormality of skin
Arterial intimal fibrosis
Abnormality of ocular abduction
Abnormality of upper lip vermillion
Abnormality of mouth size
Hemifacial hypoplasia
Anterior plagiocephaly
Unicoronal synostosis
Long palm
Prominent digit pad
Long-segment aganglionic megacolon
Recurrent mycobacterial infections
Absent tragus
Cleft earlobe
Absent antitragus
Infra-orbital fold
Prominent eyelashes
Laterally extended eyebrow
Elevated C-reactive protein level
Metopic depression
Vertical forehead creases
Short face
Abnormal shape of the frontal region
EEG with occipital slowing
EEG with continuous slow activity
EEG with abnormally slow frequencies
EEG with generalized epileptiform discharges
EEG with focal spike waves
EEG with focal sharp waves
EEG with focal sharp slow waves
EEG with focal spikes
Uni- and bilateral multifocal epileptiform discharges
Focal EEG discharges with secondary generalization
Interictal epileptiform activity
Beta-EEG
Alpha-EEG
Generalized clonic seizures
Focal myoclonic seizures
Obtundation status
Myoclonic absences
Abnormality of skin adnexa morphology
Chronic furunculosis
Bilateral fetal pyelectasis
Abnormality of epidermal morphology
Abnormality of skin morphology
Defective production of NFKB1-dependent cytokines
Hypomature dental enamel
Hypocalcification of dental enamel
Incisor macrodontia
Abnormality of canine
Abnormality of dental color
Abnormality of dental structure
Dentinogenesis imperfecta limited to primary teeth
Localized periodontitis
Generalized periodontitis
Agenesis of premolar
Abnormal number of permanent teeth
Abnormality of circulating adrenocorticotropin level
Abnormality of the intrahepatic bile duct
Abnormality of renal excretion
Abnormality of iron homeostasis
Aplasia/Hypoplasia of the vagina
Abnormality of the gastrointestinal tract
Abnormality of circulating enzyme level
Abnormality of mucopolysaccharide metabolism
Abnormality of carbohydrate metabolism/homeostasis
Abnormal corpus striatum morphology
Abnormality of the intrinsic pathway
Abnormality of cellular immune system
Abnormality of immune system physiology
Absence of Lutheran antigen on erythrocytes
Blood group antigen abnormality
Absence of stomach bubble on fetal sonography
Mild fetal ventriculomegaly
Echogenic intracardiac focus
Aplasia/Hypoplasia of the nasal bone
Abnormality of the nasal bone
Abnormality of the upper urinary tract
Posterior cortical cataract
Hyperisoleucinemia
Hypersarcosinuria
Acromelia
Increased nuchal translucency
Monocular strabismus
Delayed fine motor development
EEG with spike-wave complexes
EEG with spike-wave complexes (>3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with multifocal slow activity
Abnormality of copper homeostasis
Spontaneous pain sensation
Abnormality of pain sensation
Ridged cranial sutures
Abnormal position of hair whorl
Everted upper lip vermilion
Impaired visuospatial constructive cognition
Hyoplasia of the Leydig cells
Abnormality of the Leydig cells
Sacrococcygeal pilonidal abnormality
Palmar hyperkeratosis
Spontaneous rupture of the globe
Cystic lesions of the pinnae
Abnormal hair pattern
Abnormality of hair texture
1-5 finger syndactyly
4-5 finger syndactyly
Sutural cataract
Lamellar pulverulent cataract
2-5 finger syndactyly
Abnormality of the zygomatic bone
Aplasia of the maxilla
Abnormality of the diencephalon
Abnormal dura mater morphology
Flat nasal alae
Abnormal elasticity of skin
Abnormality of the nasal cavity
Elevated alkaline phosphatase of hepatic origin
Anterior pituitary dysgenesis
Elevated levels of phytanic acid
Abnormality of the clivus
Paraplegia/paraparesis
Ectopic thymus tissue
Aplasia/Hypoplasia of the thymus
Limitation of movement at ankles
Fibular bowing
Hyperextensibility of the knee
Hypertrophy of the lower limb
Abnormality of the hypothenar eminence
Hyperextensibility at elbow
Aplasia of the bladder
Oligosacchariduria
Aplasia/Hypoplasia of the testes
Abnormality of the male genitalia
Bifid femur
Ectopic accessory finger-like appendage
Aplasia/Hypoplasia of the phalanges of the 2nd toe
Abnormality of the 5th toe
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the diaphragm
Aplasia/Hypoplasia of the breasts
Abnormally low-pitched voice
Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the uvula
Short hard palate
Oral synechia
Pseudoepiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand
Cone-shaped epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the distal phalanges of the hand
Structural foot deformity
Aplasia/Hypoplasia of the middle phalanges of the toes
Broad phalanx of the toes
Aplasia/Hypoplasia of the phalanges of the toes
Ivory epiphyses of the toes
Aplasia of the distal phalanx of the hallux
Duplication of the proximal phalanx of the hallux
Bullet-shaped distal phalanx of the hallux
Broad distal phalanx of the hallux
Aplasia/Hypoplasia of the distal phalanx of the hallux
Aplasia/hypoplasia of the 1st metatarsal
Aplasia/Hypoplasia of the phalanges of the hallux
Abnormality of the first metatarsal bone
Aplasia of the 4th metacarpal
Aplasia of the 2nd metacarpal
Broad 1st metacarpal
Aplasia/Hypoplasia of the 1st metacarpal
Cone-shaped epiphysis of the 1st metacarpal
Abnormality of the 5th metacarpal
Complete duplication of the distal phalanges of the hand
Polydactyly affecting the 4th finger
Partial duplication of the proximal phalanx of the 3rd finger
Complete duplication of the middle phalanx of the 3rd finger
Polydactyly affecting the 3rd finger
Asymmetry of the mouth
Sunken cheeks
Abnormality of the columella
Aplasia/Hypoplasia involving the nose
Abnormality of the tragus
Abnormal temporal bone morphology
Thin ear helix
Prominent ear helix
Crumpled ear
Abnormality of the antitragus
Thickened ears
Localized hirsutism
Abnormality of secondary sexual hair
Abnormality of hair pigmentation
Aplasia of the distal phalanges of the hand
Broad distal phalanges of all fingers
Cerebellar ataxia associated with quadrupedal gait
Triangular shaped distal phalanges of the hand
Bullet-shaped middle phalanges of the hand
Curved distal phalanges of the hand
Lower limb peromelia
Amelia involving the lower limbs
Upper limb peromelia
Low-output congestive heart failure
Reduced number of teeth
Aplasia of the phalanges of the hand
Lester's sign
Pyramidal skinfold extending from the base to the top of the nails
Aplasia of the pectoralis major muscle
Aplasia of the parotid gland
Tibial pseudoarthrosis
Spinal neurofibromas
Hypomelanotic macule
Papillary cystadenoma of the epididymis
Abnormality of the epididymis
Spinal hemangioblastoma
Chronic CSF lymphocytosis
Contracture of the distal interphalangeal joint of the fingers
Stippling of the epiphysis of the distal phalanx of the thumb
Distally placed thumb
Complete duplication of proximal phalanx of the thumb
Peripheral Schwannoma
Triangular shaped middle phalanx of the 2nd finger
Hypoplasia of the pharynx
Abnormality of the hairline
Triangular epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 2nd finger
Deviation of the hand or of fingers of the hand
Radial deviation of the 3rd finger
Triangular shaped proximal phalanx of the 3rd finger
Triangular shaped middle phalanx of the 3rd finger
Broad phalanges of the 5th finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Radial deviation of the 4th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Triangular shaped middle phalanx of the 5th finger
Osteolysis involving bones of the feet
Increased adipose tissue
Aplasia/Hypoplasia of the frontal sinuses
Aplasia/Hypoplasia of the mandible
Abnormal ossification involving the femoral head and neck
Aplasia/Hypoplasia involving the pelvis
Chronic oral candidiasis
Weakness of long finger extensor muscles
Loss of subcutaneous adipose tissue from upper limbs
Atrophy of quadriceps femoris muscle
Amyotrophy of ankle musculature
Generalized weakness of limb muscles
Loss of gluteal subcutaneous adipose tissue
Exercise-induced leg cramps
Necrotizing myopathy
Decreased activity of mitochondrial respiratory chain
Leg muscle stiffness
Nonprogressive muscular atrophy
Tibialis muscle weakness
Progressive distal muscular atrophy
Adipose tissue loss
Hypoplastic ischiopubic rami
Large iliac wings
Broad femoral head
Widened sacrosciatic notch
Early ossification of capital femoral epiphyses
Wide capital femoral epiphyses
Wide proximal femoral metaphysis
Aplasia/Hypoplasia of the external ear
Aplasia of the epiglottis
Partially duplicated kidney
Renal hypophosphatemia
"Gonadal dysgenesis with female appearance, male"
Distal urethral duplication
Transient nephrotic syndrome
Aplasia/hypoplasia of the uterus
Enlarged polycystic ovaries
Multiple small medullary renal cysts
Incomplete male pseudohermaphroditism
Aplasia/Hypoplasia of the fallopian tube
Congenital macroorchidism
Postlingual sensorineural hearing impairment
Underfolded superior helices
Absent vestibular function
Aplasia/Hypoplasia of the sacrum
Abnormality of the vertebral spinous processes
Moderate sensorineural hearing impairment
No permanent dentition
Congenital craniofacial dysostosis
Asymmetry of spinal facet joints
Poorly ossified cervical vertebrae
Central vertebral hypoplasia
Hypoplastic spinal processes
C1-C2 vertebral abnormality
Anterior wedging of L1
Punctate vertebral calcifications
Onychogryposis of toenails
Hypoplastic fifth fingernail
Puberty and gonadal disorders
Abnormality of vitamin A metabolism
Abnormality of the calcaneus
Reduced factor XIII activity
Factor X activation deficiency
Increased red cell sickling tendency
Elevated plasma branched chain amino acids
Diaminoaciduria
Elevated creatine kinase after exercise
Reduced von Willebrand factor activity
Reduced factor X activity
Impaired collagen-induced platelet aggregation
Decreased activity of mitochondrial complex II
Spinal cord posterior columns myelin loss
Transient hypophosphatemia
Cerebellar cortical atrophy
Abnormal light-adapted electroretinogram
Transient aminoaciduria
Secondary growth hormone deficiency
Adrenal medullary hypoplasia
Multiple pancreatic beta-cell adenomas
Adrenocortical hypoplasia
Reduced factor VII activity
Decreased proportion circulating T-helper cells
Mucopolysacchariduria
Impaired epinephrine-induced platelet aggregation
Delayed calcaneal ossification
Distal tapering of metatarsals
Calcaneonavicular fusion
Flexion limitation of toes
Ankylosis of feet small joints
Abnormality of the fifth metatarsal bone
Low maternal serum estriol
Maternal virilization in pregnancy
Abnormally lax or hyperextensible skin
Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the lens
Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the optic nerve
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the iris
Abnormality of the palpebral fissures
Abnormality of the extraocular muscles
Abnormality of macular pigmentation
Malformed lacrimal duct
Intraretinal exudate
Macular hypopigmentation
Progressive visual field defects
Retinal arteriolar occlusion
Pattern dystrophy of the retina
Optic atrophy from cranial nerve compression
Peripapillary chorioretinal atrophy
Dense posterior cortical cataract
Intermittent microsaccadic pursuits
Reticular pigmentary degeneration
Abnormal flash visual evoked potentials
Lacrimal duct aplasia
Reticular retinal dystrophy
Marginal corneal dystrophy
Almond-shaped palpebral fissure
Amyloid deposition in the vitreous humor
Mosaic corneal dystrophy
Anterior chamber synechiae
Nonprogressive restrictive external ophthalmoplegia
Adult-onset night blindness
Nodular corneal dystrophy
Horizontal supranuclear gaze palsy
Nongranulomatous uveitis
Punctate corneal dystrophy
Granular macular appearance
Posterior retinal neovascularization
Chorioretinal dysplasia
Chronic irritative conjunctivitis
Peripheral vitreous opacities
Depigmented fundus
Vitelliform-like macular lesions
Progressive night blindness
Abnormality of chorioretinal pigmentation
Large hyperpigmented retinal spots
Diffuse nuclear cataract
Lacrimal gland aplasia
Peripheral tractional retinal detachment
Pigmentation anomalies of sun-exposed skin
Telangiectasia of extensor surfaces
"Fine, reticulate skin pigmentation"
Nevus flammeus nuchae
Blotching pigmentation of the skin
Hypoproteinemic edema
Generalized reticulate brown pigmentation
Congenital palmoplantar keratodermia
Generalized bronze hyperpigmentation
Late onset atopic dermatitis
Generalized seborrheic dermatitis
Absent pigmentation of the ventral chest
Punctate palmoplantar hyperkeratosis
Hypopigmented skin patches on arms
Increased number of skin folds
Irregular hyperpigmentation of back
Lack of subcutaneous fatty tissue
Redundant skin on fingers
Progressive hyperpigmentation
Streaks of hyperkeratosis along each finger onto the palm
Recurrent staphylococcal infections
Diffuse skin atrophy
Depigmentation/hyperpigmentation of skin
Generalized papillary lesions
Perifollicular hyperkeratosis
Generalized anhidrosis
Prominent veins on trunk
Progressive reticulate hyperpigmentation
Palmoplantar blistering
Hyperpigmented/hypopigmented macules
Generalized hyperpigmentation
Hair-nail ectodermal dysplasia
Few cafe-au-lait spots
Telangiectasia of the oral mucosa
Hyperextensible skin of face
Neonatal wrinkled skin of hands and feet
Macular hyperpigmented dermopathy
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
"Asymmetric, linear skin defects"
Excessive wrinkled skin
Hyperkeratosis with erythema
Congenital exfoliative erythroderma
Atrophy/Degeneration involving the caudate nucleus
Motor neuron atrophy
Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the central nervous system
Atrophy/Degeneration affecting the brainstem
Abnormality of the pons
Hemifacial seizures
Mixed demyelinating and axonal polyneuropathy
Rapid neurologic deterioration
Acute infantile spinal muscular atrophy
Occipital myelomeningocele
Symmetric peripheral demyelination
Decreased number of small peripheral myelinated nerve fibers
Congenital encephalopathy
Recurrent subcortical infarcts
Spinocerebellar tract disease in lower limbs
Decreased distal sensory nerve action potential
Lower limb amyotrophy
Irregular myelin loops
Diffuse white matter abnormalities
Cerebral artery atherosclerosis
Focal T2 hyperintense basal ganglia lesion
Peripheral hypomyelination
Absent smooth pursuit
Slowed slurred speech
Diffuse demyelination of the cerebral white matter
Bilateral basal ganglia lesions
Acute demyelinating polyneuropathy
Cerebellar medulloblastoma
Subcortical dementia
Temporal cortical atrophy
Chronic hepatic encephalopathy
Segmental peripheral demyelination
Prolonged somatosensory evoked potentials
Cranial nerve motor loss
Dilated third ventricle
Late-onset muscular dystrophy
Decreased amplitude of sensory action potentials
Profound static encephalopathy
Generalized cerebral atrophy/hypoplasia
Focal white matter lesions
Symmetric lesions of the basal ganglia
Anterior encephalocele
Generalized hyperreflexia
Nonprogressive encephalopathy
Cavitation of the basal ganglia
Dorsal column degeneration
Grammar-specific speech disorder
Proximal spinal muscular atrophy
Frontoparietal cortical dysplasia
Unilateral polymicrogyria
Metachromatic leukodystrophy variant
Axial muscle stiffness
"Abnormal aggressive, impulsive or violent behavior"
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Frontal cortical atrophy
Congenital peripheral neuropathy
Impaired thermal sensitivity
Thick cerebral cortex
Symmetrical progressive peripheral demyelination
Midline central nervous system lipomas
Posterior leukoencephalopathy
Episodic generalized hypotonia
Ovarian papillary adenocarcinoma
Localized neuroblastoma
Anal canal squamous carcinoma
Diffuse leiomyomatosis
Congenital neuroblastoma
Intestinal carcinoid
Hereditary nonpolyposis colorectal carcinoma
Aplasia/Hypoplasia of the sternum
Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the clavicles
Abnormality of the hepatic vasculature
Aplasia/Hypoplasia of the lungs
Myocardial steatosis
Short chordae tendineae of the tricuspid valve
Pulmonic valve myxoma
Aortic tortuosity
Ventricular preexcitation with multiple accessory pathways
Reduced systolic function
Impaired myocardial contractility
Coat hanger sign of ribs
Straight clavicles
Fatal liver failure in infancy
Depletion of mitochondrial DNA in liver
Intrahepatic cholestasis with episodic jaundice
Acute hepatic steatosis
Increased hepatocellular lipid droplets
Decreased mitochondrial complex III activity in liver tissue
Repeated pneumothoraces
Intraalveolar nodular calcifications
Aplasia/hypoplasia of the humerus
Aplasia/Hypoplasia involving the carpal bones
Abnormality of femoral epiphysis
Abnormality of the tibial metaphysis
Abnormality of the femoral metaphysis
Abnormality of the pancreatic islet cells
Fixed elbow flexion
Irregular proximal tibial epiphyses
Proximal femoral metaphyseal abnormality
Elongated radius
Distal tapering femur
Irregular distal femoral epiphysis
Dumbbell-shaped femur
Broad long bone diaphyses
Agenesis of mandibular central incisor
Hypoplasia of the tooth germ
Failure of eruption of permanent teeth
Obliteration of the pulp chamber
Screwdriver-shaped incisors
Abnormality of primary molar morphology
Peg-shaped maxillary lateral incisors
Supernumerary maxillary incisor
Generalized microdontia
Dagger-shaped pulp calcifications
Multiple unerupted teeth
Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of the 5th finger
Abnormality of hand joint mobility
Slender metacarpals
Tapering pointed ends of distal finger phalanges
Thin proximal phalanges with broad epiphyses of the hand
Hypersegmentation of proximal phalanx of second finger
Thimble-shaped middle phalanges of hand
Irregular metacarpals
Long phalanx of finger
Broad metacarpal epiphyses
Shortening of all proximal phalanges of the fingers
Long proximal phalanx of finger
Cuboidal metacarpal
Reduced phenylalanine hydroxylase activity
Hypoargininemia
Progressive inspiratory stridor
Ventilator dependence with inability to wean
Intermittent hyperpnea at rest
Abnormal respiratory motile cilium morphology
Imperfect vocal cord adduction
Abnormal renal corticomedullary differentiation
Abnormal hand morphology
Radial deviation of thumb terminal phalanx
Proximal tibial and fibular fusion
Aphalangy of the hands
Metacarpophalangeal synostosis
Metaphyseal enchondromatosis
Opposable triphalangeal thumb
Congenital foot contraction deformities
Limited elbow extension and supination
Shortening of all distal phalanges of the toes
Cortical thickening of long bone diaphyses
Multiple skeletal anomalies
Fifth finger distal phalanx clinodactyly
Congenital foot contractures
Cortical irregularity
Hyperextensible thumb
Increased bone density with cystic changes
Dysplastic distal thumb phalanges with a central hole
Talocalcaneal synostosis
Rudimentary postaxial polydactyly of hands
Bilateral intracranial calcifications
Positional foot deformity
Multiple digital exostoses
Cortical sclerosis
Cutaneous syndactyly between fingers 2 and 5
Abnormal vertebral segmentation and fusion
Osteoporosis of vertebrae
Arthrogryposis-like hand anomaly
Large cafe-au-lait macules with irregular margins
Congenital alopecia totalis
Non-acidotic proximal tubulopathy
Exercise-induced hemolysis
Macrocytic dyserythropoietic anemia
Spontaneous hemolytic crises
T-cell lymphoma/leukemia
Increased megakaryocyte count
Metopic suture patent to nasal root
Abnormal epiglottis morphology
Orbital craniosynostosis
Craniofacial osteosclerosis
Sclerotic cranial sutures
Recurrent systemic pyogenic infections
Absence of CD8-positive T cells
Recurrent gram-negative bacterial infections
Reduction of neutrophil motility
Recurrent protozoan infections
Recurrent Haemophilus influenzae infections
Severe T-cell immunodeficiency
Abnormal facial expression
Abnormal carotid artery morphology
Autonomic bladder dysfunction
Abnormality of complement system
Sleepy facial expression
Disturbance of facial expression
Prominent nasal septum
Pulmonary aterial intimal fibrosis
Vasculitis of large artery
Pectoral muscle hypoplasia/aplasia
Partial abdominal muscle agenesis
Chronic calcifying pancreatitis
Jejunoileal ulceration
Duplication of internal organs
Frequent Giardia lamblia infestation
Anomalous splenoportal venous system
Stiff interphalangeal joints
Generalized morning stiffness
Flattened metatarsal heads
Abnormal atrioventricular conduction
Abnormality of the intervertebral disk
Abnormal sacrum morphology
Abnormality of the vertebral endplates
Abnormal nasal morphology
Streaky metaphyseal sclerosis
Absent styloid process of ulna
Cone-shaped epiphyses fused within their metaphyses
Arthralgia/arthritis
Shortening of all phalanges of the toes
Polyarticular chondrocalcinosis
Aplasia/Hypoplasia of the capital femoral epiphysis
Prominent styloid process of ulna
Recurrent cerebral hemorrhage
Medial calcification of large arteries
Generalized arterial calcification
Arteriosclerosis of small cerebral arteries
Abnormality of the pulmonary vasculature
Peripheral arterial stenosis
Atypical hyperphenylalaninemia
Generalized distal tubular acidosis
Congenital lactic acidosis
Exercise-induced lactic acidemia
Stress/infection-induced lactic acidosis
Respiratory failure requiring assisted ventilation
Neonatal inspiratory stridor
Impaired ADP-induced platelet aggregation
Compensated hemolytic anemia
Reduced protein S activity
Microspherocytosis
Recurrent thromboembolism
Folate-unresponsive megaloblastic anemia
Hypersegmentation of neutrophil nuclei
Juvenile gastrointestinal polyposis
Elbow hypertrichosis
Brittle scalp hair
Effort-induced polymorphic ventricular tachycardias
Axial malrotation of the kidney
Cervical C5/C6 vertebrae fusion
Anterior beaking of thoracic vertebrae
Enlarged vertebral pedicles
Anterior beaking of lower thoracic vertebrae
Hyperconvex vertebral body endplates
Supernumerary vertebral ossification centers
Irregularity of vertebral bodies
"Atrophic, patchy alopecia"
Large clumps of pigment irregularly distributed along hair shaft
Temporal hypotrichosis
Bilateral choanal atresia
Chronic rhinitis due to narrow nasal airway
Cessation of head growth
Craniofacial asymmetry
Mandibular hyperostosis
Prolonged brainstem auditory evoked potentials
Postauricular skin tag
Abnormality of the cheek
Congenital pyloric atresia
Abnormality of alkaline phosphatase activity
Abnormality of the anus
Abnormality of calcium homeostasis
Abnormality of circulating leptin level
Weakness of muscles of respiration
Abnormality of glycosphingolipid metabolism
Abnormal vitreous humor morphology
Functional motor deficit
Abnormality of the gastric mucosa
Pseudoepiphyses of hand bones
Irregular ossification of hand bones
Osteoarthritis of the small joints of the hand
Abnormality of the trapezium
Abnormality of the scaphoid
Irregular carpal bones
Abnormality of the middle phalanx of the 5th finger
Midline defect of the nose
Midline nasal groove
Curved fingers
Radial club hand
Hand monodactyly
Abnormality of ulnar metaphysis
Cone-shaped distal radial epiphysis
Broad ulna
Deformed radius
Abnormality of the joint spaces of the elbow
Cortical subperiosteal resorption of humeral metaphyses
Humerus varus
Humeral cortical thickening
Cortical diaphyseal thickening of the upper limbs
Late-onset distal muscle weakness
Muscle abnormality related to mitochondrial dysfunction
Type 1 and type 2 muscle fiber minicore regions
Eunuchoid habitus
Hypoplasia of lymphatic vessels
Type 1 fibers relatively smaller than type 2 fibers
Episodic flaccid weakness
Increased muscle fatiguability
Genetic anticipation with paternal anticipation bias
Myotonia with warm-up phenomenon
EMG: myotonic runs
Late-onset proximal muscle weakness
Large beaked nose
Reduced dihydropyrimidine dehydrogenase activity
Cellular metachromasia
Lacticaciduria
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Positive ferric chloride test
Foam cells with lamellar inclusion bodies
Absent urinary urothione
Increased intracellular sodium
Positive regitine blocking test
Viral infection-induced rhabdomyolysis
Abnormality of connective tissue
Subsarcolemmal accumulations of abnormally shaped mitochondria
Urinary glycosaminoglycan excretion
Increased serum iduronate sulfatase activity
Reduced xanthine dehydrogenase activity
Ornithinuria
Glutaric acidemia
Parathormone-independent increased renal tubular calcium reabsorption
Elevated urine pyrophosphate
EMG: axonal abnormality
Peripheral dysmyelination
Polyclonal elevation of IgM
Increased rate of premature chromosome condensation
EMG: chronic denervation signs
Decreased size of nerve terminals
CNS hypomyelination
Atlantoaxial abnormality
Peripheral axonal atrophy
Abnormality of the femoral neck or head region
Elevated intracellular cystine
Endopolyploidy on chromosome studies of bone marrow
Impaired lymphocyte transformation with phytohemagglutinin
Elevated urinary norepinephrine
Abnormal enchondral ossification
Elevated circulating catecholamine level
Abnormal bone structure
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Argininuria
Reduced orotidine 5-prime phosphate decarboxylase activity
Hyperpepsinogenemia I
Prolonged G2 phase of cell cycle
Deficient excision of UV-induced pyrimidine dimers in DNA
Decreased pyruvate carboxylase activity
Hypothalamic gonadotropin-releasing hormone deficiency
Abnormality of the spinocerebellar tracts
Abnormal peripheral myelination
Reduced factor VIII activity
Abnormality of lipid metabolism
Increased circulating cortisol level
Abnormality of urine homeostasis
Abnormality of the shoulder
Abnormality of the ankles
Abnormality of the ulna
Abnormality of tibia morphology
Abnormality of fibula morphology
Aplasia/Hypoplasia involving the central nervous system
Abnormality of the forearm
Partial absence of cerebellar vermis
Leydig cell insensitivity to gonadotropin
Decreased circulating ACTH level
Abnormality of chromosome segregation
Sudden episodic apnea
Impaired memory B cell generation
Recurrent Burkholderia cepacia infections
Flared femoral metaphysis
Abnormality of the radius
Abnormality of the knee
Abnormal trachea morphology
Stippled chondral calcification
Abnormal cartilage morphology
Recurrent enteroviral infections
Recurrent Serratia marcescens infections
Lymph node hypoplasia
Recurrent abscess formation
Abnormality of the skull base
Prenatal maternal abnormality
Abnormality of calvarial morphology
Hypertension associated with pheochromocytoma
Right aortic arch with mirror image branching
Paresis of extensor muscles of the big toe
Gastrointestinal atresia
Abnormality of the peritoneum
Abnormality of the stomach
Trichodysplasia
Abnormality of the cerebral cortex
Calcification of the small brain vessels
Abnormality of the corticospinal tract
Eye of the tiger anomaly of globus pallidus
Abnormal globus pallidus morphology
Abnormal motor neuron morphology
Cerebellar malformation
Diminished movement
Abnormal caudate nucleus morphology
Abnormality of the cerebellar vermis
Paroxysmal drowsiness
Abnormality of the autonomic nervous system
Abnormal large intestine morphology
Abnormality of the duodenum
Abnormality of the small intestine
Early balding
Dysgenesis of the cerebellar vermis
Pseudobulbar behavioral symptoms
Abnormality of the spinal cord
Abnormal upper motor neuron morphology
Abnormality of the cerebral ventricles
Abnormality of the pleura
Increased neuronal autofluorescent lipopigment
Neuromuscular dysphagia
Renal cortical atrophy
Abnormal thrombosis
Tubulointerstitial abnormality
Mesangial abnormality
Abnormality of the scalp
Nonspherocytic hemolytic anemia
Acroosteolysis of distal phalanges (feet)
Autoamputation of foot
Clinodactyly of the 5th toe
Foot acroosteolysis
Abnormal metatarsal morphology
Bulbous tips of toes
Abnormality of the spleen
Abnormality of the nasopharynx
Abnormality of the pancreas
Abnormal cardiac ventricle morphology
Abnormal tricuspid valve morphology
Abnormal pericardium morphology
Abnormal aortic morphology
Abnormal myocardium morphology
Abnormal mitral valve morphology
Primary hypercortisolism
Abnormality of the integument
Abnormality of the rib cage
Aplasia/Hypoplasia involving the skeletal musculature
1-3 toe syndactyly
Autosomal dominant contiguous gene syndrome
Abnormality of the musculature of the lower limbs
Abnormality of the foot musculature
Calvarial skull defect
Nystagmus-induced head nodding
Psychotic mentation
Specific learning disability
Photomyoclonic seizures
EEG with irregular generalized spike and wave complexes
Chronic sensorineural polyneuropathy
Short tubular bones of the hand
Abnormality of the fingertips
Abnormality of prenatal development or birth
Abnormalities of placenta or umbilical cord
Ulnar claw
Large central visual field defect
Intermittent jaundice
High axial triradius
Atheroeruptive xanthoma
Facial flushing after alcohol intake
Penetrating foot ulcers
Abnormal palmar dermatoglyphics
Anemic pallor
Dermatological manifestations of systemic disorders
Abnormality of subcutaneous fat tissue
Abnormality of the metaphysis
Short diaphyses
Abnormality of skeletal maturation
Abnormality of the hypothalamus-pituitary axis
Anterior hypopituitarism
Abnormality of the parathyroid gland
Abnormality of the endocrine system
Abnormal external genitalia
Abnormality of the urethra
IgA deposition in the glomerulus
Abnormality of the scapula
Abnormality of the breast
Peripheral axonal degeneration
Abnormal peripheral nervous system morphology
Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal nasolacrimal system morphology
Abnormal choroid morphology
Abnormality of the pharynx
Abnormality of the frontal hairline
Abnormal sclera morphology
Abnormal uvea morphology
Abnormality of refraction
Abnormal chorioretinal morphology
Abnormality iris morphology
Abnormality of vision
Abnormal conjunctiva morphology
Abnormal foveal morphology
Increased adipose tissue around the neck
Nasal mucosa telangiectasia
Abnormality of the nasal mucosa
Incomplete partition of the cochlea type II
Abnormal cochlea morphology
Hearing abnormality
Abnormality of the maxilla
Abnormality of the orbital region
Abnormality of facial musculature
Abnormality of the forehead
Increased facial adipose tissue
Abnormality of the mandible
Abnormality of the face
Abnormality of the mastoid
Abnormality of skull size
Abnormality of the anterior fontanelle
Abnormality of the fontanelles or cranial sutures
Oral cavity telangiectasia
Tongue telangiectasia
Abnormal parotid gland morphology
Abnormal oral frenulum morphology
Movement abnormality of the tongue
Abnormality of lower lip
Abnormality of upper lip
Abnormality of the uvula
Severe periodontitis
Abnormal oral cavity morphology
Abnormality of the menstrual cycle
"Ambiguous genitalia, female"
Abnormality of the labia
Abnormality of the clitoris
Abnormality of the scrotum
Abnormality of the penis
Abnormality of male external genitalia
Functional abnormality of male internal genitalia
Abnormality of male internal genitalia
Abnormality of female internal genitalia
Abnormality of body height
Asthma-chronic obstructive pulmonary disease overlap syndrome
Steep mandibular plane angle
RNA polymerase III-related leukodystrophy
Gastritis cystica profunda
Pneumonia due to influenza
Metastatic thymic carcinoma
Chronic pneumonia
3-methylglutaconic aciduria type 5
Symptomatic irreversible pulpitis
Undifferentiated spondyloarthropathy
Acute hypoxemic respiratory failure
Metastatic seminoma
Bacteremia due to Methicillin resistant Staphylococcus aureus
Acute hypercapnic respiratory failure
Dream enactment behavior
"3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome"
Inflammation of fetal umbilical artery
STING-associated vasculopathy with onset in infancy
Mosaic Turner syndrome
Neurocognitive Disorders
Poorly differentiated sarcoma
Acute exacerbation of chronic obstructive bronchitis
Lesion of fallopian tube
"Cone-rod synaptic disorder, congenital nonprogressive"
Postoperative Residual Curarization
Feeding and Eating Disorders
Left-Sided Breast Neoplasms
Right-Sided Breast Neoplasms
Compassion Fatigue
"Obesity, Metabolically Benign"
Sleep Wake Disorders
Mammary Analogue Secretory Carcinoma
Trauma and Stressor Related Disorders
Specific Learning Disorder
Severe Acute Malnutrition
Altitude Hypoxia
Perihilar Cholangiocarcinoma
"Mental Disorders, Severe"
IgG4-Related Hypophysitis
Anti-PIT-1 Antibody Syndrome
Convulsions
Autosomal dominant hypocalcemia
beta-Mannosidosis
Ulnar deviation of the hand or of fingers of the hand
Congenital anomaly of anterior segment of eye
Undifferentiated spindle cell sarcoma
Hydronephrosis Due To Pujo
Cortical visual impairment
Decreased antibody level in blood
Chorioretinal atrophy
Idiopathic retroperitoneal fibrosis
Undifferentiated round cell sarcoma
Neuroepithelioma
Multiple endocrine neoplasia Type 2
cervical cancer
Immunosuppression
Anti-Mullerian Hormone Measurement
Malignant germ cell neoplasm
Sclerosing rhabdomyosarcoma
Hypermethioninemia
Sphincter of Oddi Dyskinesia
Complete congenital stationary night blindness
SCHWANNOMATOSIS 1
Satyr ear
CATARACT 40
"Cataract, total congenital with posterior sutural opacities in Heterozygotes"
Selective immunoglobulin A deficiency
Opalescent dentin
Retinal dystrophy with early macular involvement
"Alopecia, Androgenetic, 1"
Idiopathic partial epilepsy
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
Hormone refractory breast cancer
Febrile infection related epilepsy syndrome
Tumour budding
Systemic immune activation
Post stroke epilepsy
Pseudogynaecomastia
Hypertensive cerebrovascular disease
Multinucleate cell angiohistiocytoma
Postpartum thrombosis
Renal medullary carcinoma
Antral gastritis
Foot osteomyelitis
Combined pulmonary fibrosis and emphysema
Cancer-associated thrombosis
Chronic hepatitis C genotype 1
Chronic hepatitis C genotype 1a
Chronic hepatitis C genotype 1b
Chronic hepatitis C genotype 2
Chronic hepatitis C genotype 4
Chronic hepatitis C genotype 4a
Chronic hepatitis C genotype 3
Neointimal hyperplasia
Pseudoxanthoma elasticum-like papillary dermal elastolysis
End stage Parkinson's disease
Very late onset schizophrenia
Extragenital endometriosis
Verrucous keratosis
Post stroke seizure
Retinal nonperfusion
Primary pineal melanoma
Thrombotic vascular disease
Keratin pearl
Megaureter
ROSE Cluster 1
Cutaneous Small Vessel Vasculitis
Familial Glucocorticoid Deficiency Type 1
Nephrotic Syndrome - Frequently Relapsing
"Focal Segmental Glomerulosclerosis, Not Otherwise Specified"
Lepidic Predominant Adenocarcinoma
Familial Glucocorticoid Deficiency Type 2
Infusion pump Alert priority PN
Abnormality of cardiovascular system morphology
Total Respiratory System Resistance
"Focal seizures, afebril"
Giant Cell Lesion of Small Bones
Obstructive Ureterocele
Insulin Sensitivity Measurement
Physical Activity Measurement
Aristolochic Acid Nephropathy
ROSE Cluster 5
Interleukin 1 Alpha Measurement
Cholesteryl Ester Transfer Protein Measurement
ROSE Cluster 2
ROSE Cluster 3
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Ectomesenchymal Chondromyxoid Tumor
Soluble P-Selectin Measurement
ROHHAD syndrome
Nasal Chondromesenchymal Hamartoma
Hemosiderotic Fibrolipomatous Tumor
Cribriform Neuroepithelial Tumor
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Congenital Renal Hypoplasia
Pituitary stalk interruption syndrome
Thyroglobulin Deficiency
Spindle Cell/Sclerosing Rhabdomyosarcoma
Secondary Peripheral Chondrosarcoma
Secondary haemophagocytic lymphohistiocytosis
Renal Angiomyoadenomatous Tumor
Refusal to Bear Weight
Refractory Childhood Acute Lymphoblastic Leukemia
Radiation Nephropathy
Ph-Like Acute Lymphoblastic Leukemia
Pancreaticobiliary Malunion
Ovarian Microcystic Stromal Tumor
Obesity Related Glomerulopathy
Monogenic Obesity
Meningioangiomatosis
Membranous Lupus Nephritis
Melanocortin 4 Receptor Deficiency
Lymphocytic Neurohypophysitis
Lupus Flare
Familial glucocorticoid deficiency
Infant Leukemia
Infant Acute Lymphoblastic Leukemia
Hypocellular Myelodysplastic Syndrome
Grade III Chondrosarcoma
Grade II Chondrosarcoma
Fusion-Positive Rhabdomyosarcoma
Fusion-Positive Alveolar Rhabdomyosarcoma
Fusion-Negative Rhabdomyosarcoma
Fusion-Negative Alveolar Rhabdomyosarcoma
Focal Segmental Glomerulosclerosis Collapsing Variant
Familial Atypical Hemolytic Uremic Syndrome
Deep Circumscribed Morphea
Contrast - Induced Nephropathy
Congenital Isolated Thyroid Stimulating Hormone Deficiency
C3 Glomerulonephritis
Soft Tissue Angiosarcoma
Acquired Hypogonadotropic Hypogonadism
Papilloma of breast
Disruptive mood dysregulation disorder
Juvenile open angle
Avascular retina
Pseudohypopyon
Cardiovascular disease+Pulmonary disease
Sudden loss of visual acuity
obsolete Peripheral retinopathy
Paravenous chorioretinal atrophy
obsolete Rod-cone dystrophy
Ciliary body coloboma
Increased serum testosterone level
Decreased circulating gonadotropin level
Decreased circulating follicle stimulating hormone level
Decreased circulating luteinizing hormone level
Abnormal circulating follicle-stimulating hormone level
Increased circulating androgen level
Decreased circulating androgen level
Urticarial plaque
Decreased serum insulin-like growth factor 1
Abnormal serum interferon-gamma level
Increased serum interferon-gamma level
Reduced muscle carnitine level
Primary Caesarian section
Secondary Caesarian section
Hyperphalangy of the 2nd finger
Induced vaginal delivery
Decreased proportion of naive B cells
Decreased proportion of memory B cells
Increased proportion of memory B cells
Increased proportion of transitional B cells
Decreased proportion of class-switched memory B cells
Spoken Word Recognition Deficit
Ossifying fibroma of the jaw
Atypical pulmonary carcinoid tumor
Abnormal timing of pattern reversal visual evoked potentials
Abnormal multifocal electroretinogram
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
Exudative vitreoretinopathy
Yellow/white lesions of the macula
Yellow/white lesions of the retina
Retinal crystals
Difficulty adjusting from light to dark
Visual acuity test abnormality
Abnormal best corrected visual acuity test
Visual acuity light perception with projection
Color vision test abnormality
Abnormal kinetic perimetry test
Photoreceptor layer loss on macular OCT
Abnormal foveal morphology on macular OCT
Foveal photoreceptor outer segment loss on macular OCT
Hyporeflective spaces on macular OCT
Perifoveal ring of hyperautofluorescence
Hyperautofluorescent macular lesion
Incomplete congenital stationary night blindness
Blind-spot enlargment
Optically empty vitreous
Decreased adiponectin level
Abnormal pelvis bone morphology
Abnormality of the periosteum
Decreased serum testosterone level
Abnormality of the tongue muscle
Increased level of platelet-activating factor
Hyperkeratosis pilaris
White scaling skin
Simultanapraxia
Elevated CSF neopterin level
Decreased CSF biopterin level
Abnormal circulating insulin level
Elevated hemoglobin A1c
Absent natural killer cells
Decreased urinary copper concentration
Abnormality of jaw muscles
Osteolysis involving bones of the upper limbs
Abnormal lactate dehydrogenase activity
Decreased serum complement C4
Elevated plasma acylcarnitine levels
Tiger tail banding
Decreased carnitine level in liver
Thick hair
Abnormality of the somatic nervous system
Abnormality of masticatory muscle
Abnormal common carotid artery morphology
Bilateral facial muscle weakness
Abnormality of the shape of the midface
Hyperplasia of the premaxilla
Abnormality of masseter muscle
Abnormality of buccal mucosa
Abnormality of nasopharyngeal adenoids
Abnormality of neck blood vessel
Abnormal cricoid cartilage morphology
Abnormality of inferior oblique extraocular muscle
Decreased levels of alpha-fetoprotein
"Sterility, Reproductive"
Flap necrosis
Occult chronic type B viral hepatitis
Severe alcohol dependence
Autoimmune cholangitis
Optic perineuritis
Chronic kidney disease mineral and bone disorder
Dental plaque induced gingivitis
Chronic alcoholic liver disease
Encephalitis caused by tick-borne encephalitis virus
Prostate cancer metastatic to bone
Supine hypertension
Autosomal Dominant Hereditary Pancreatitis
Hereditary systemic amyloidosis
Metatarsal Valgus
"Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome"
Partial duplication of thumb phalanx
Metatarsus Varus
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Porencephalic cyst
Porencephaly
"Thyrotropin deficiency, isolated"
Asthenozoospermia finding
Charcot-Marie-Tooth disease type 4
Bulbar palsy
Developmental Porencephaly
Oligodontia
Deaf Mutism
Abnormality of limb bone morphology
Gastrointestinal infection
Chronic Traumatic Encephalopathy
Necrotizing enterocolitis in fetus OR newborn
Progressive spinal muscular atrophy
Unilateral lung agenesis
Hypoplasia of right ventricle
Dupuytren's Disease
"Guillain-Barre Syndrome, Familial"
"PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO"
"MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO"
SPONDYLOCOSTAL DYSOSTOSIS 5
Tooth agenesis
"Basal cell carcinoma, nodular"
Increased head circumference
"Alopecia, Male Pattern"
"Trichothiodystrophy, Nonphotosensitive 1"
"DEAFNESS, AUTOSOMAL DOMINANT 40"
"DEAFNESS, AUTOSOMAL RECESSIVE 97"
"DEAFNESS, AUTOSOMAL DOMINANT 67"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U"
JOUBERT SYNDROME 23
"MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL"
"FANCONI ANEMIA, COMPLEMENTATION GROUP T"
JOUBERT SYNDROME 24
JOUBERT SYNDROME 25
JOUBERT SYNDROME 26
Hereditary Hyperekplexia
MYOCLONIC-ATONIC EPILEPSY
MEND SYNDROME
"OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO"
OPTIC ATROPHY 8
PAGET DISEASE OF BONE 6
"PAGET DISEASE OF BONE 2, EARLY-ONSET"
PAGET DISEASE OF BONE 3
"Fibromatosis, Palmar"
Carbamoyl Phosphate Synthase 1 Deficiency
"MENTAL RETARDATION, X-LINKED 102"
Cone-Rod Dystrophies
AL-RAQAD SYNDROME
CHOPS SYNDROME
LUSCAN-LUMISH SYNDROME
Childhood Anaplastic Ependymoma
Childhood Astrocytoma
Childhood Ganglioneuroblastoma
Childhood Gastrointestinal Stromal Tumor
Childhood Neuroblastoma
Childhood Small Intestinal Carcinoma
Childhood Thyroid Gland Papillary Carcinoma
Ventilatory Threshold
Woodchuck Hepatocellular Carcinoma
Non-cirrhotic portal hypertension
Immunoglobulin G4-Related Disease
Skin squamous cell carcinoma metastatic
Locomotive syndrome
Sulcus vocalis
Paravalvular aortic regurgitation
Sensory processing disorder
Ectopic posterior pituitary gland
Persistent depressive disorder
Bendopnoea
C3 glomerulopathy
Cardiac steatosis
Arachnoid web
Neurovascular conflict
Muscle hypoxia
Mite allergy
Autosomal dominant cerebellar ataxia
Hypocomplementaemic urticarial vasculitis syndrome
Marginal zone lymphoma refractory
Mammary gland tumor
Oncogenic hypophosphataemic osteomalacia
HIV viraemia
Major neurocognitive disorder
Urothelial cancer of renal pelvis
Myxoid liposarcoma metastatic
Reed syndrome
Neuromyelitis optica attack
Abdominal tuberculosis
End stage COPD
Familial LCAT deficiency
Giant platelet disorder
Peritoneal dissemination
Central neuropathic pain
Adjacent segment disease
Functional neurological symptom disorder
Shift work disorder
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1"
"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3"
"ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 34"
FAMILIAL ADENOMATOUS POLYPOSIS 3
SPINOCEREBELLAR ATAXIA 41
"REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET"
NUDT15 deficiency
"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3"
"OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE"
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3"
"NEPHROTIC SYNDROME, TYPE 13"
"NEPHROTIC SYNDROME, TYPE 12"
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52"
"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3"
"LEUKODYSTROPHY, HYPOMYELINATING, 13"
"METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION"
"CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION"
"IMMUNODEFICIENCY, COMMON VARIABLE, 13"
"MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO"
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
Childhood-onset spasticity with hyperglycinemia
COWDEN SYNDROME 7
EVEN-PLUS SYNDROME
"MYOPATHY, SCAPULOHUMEROPERONEAL"
CATARACT 45
"BRACHYDACTYLY, TYPE A1, D"
LYMPHATIC MALFORMATION 6
"PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET"
"EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE"
MEIER-GORLIN SYNDROME 6
"MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo"
"MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE"
"CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA"
"IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3"
"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2"
"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION"
PREIMPLANTATION EMBRYONIC LETHALITY 1
CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
LAMB-SHAFFER SYNDROME
"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2"
SPINOCEREBELLAR ATAXIA 42
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
OROFACIAL CLEFT 15
OOCYTE MATURATION DEFECT 2
"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2"
SECKEL SYNDROME 9
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
"WOOLLY HAIR, AUTOSOMAL RECESSIVE 3"
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
"HETEROTAXY, VISCERAL, 7, AUTOSOMAL"
"AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE"
IMMUNODEFICIENCY 46
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51"
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
TAKENOUCHI-KOSAKI SYNDROME
"TREMOR, HEREDITARY ESSENTIAL, 5"
"SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2"
"COENZYME Q10 DEFICIENCY, PRIMARY, 8"
"OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES"
"NEPHROTIC SYNDROME, TYPE 11"
"CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES"
"CILIARY DYSKINESIA, PRIMARY, 33"
"TOOTH AGENESIS, SELECTIVE, 7"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE"
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn"
"MYASTHENIC SYNDROME, CONGENITAL, 19"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21"
"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5"
"PARKINSON DISEASE 22, AUTOSOMAL DOMINANT"
DESANTO-SHINAWI SYNDROME
"DEAFNESS, AUTOSOMAL DOMINANT 68"
"DEAFNESS, AUTOSOMAL DOMINANT 69"
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14"
SURF1-related Charcot-Marie-Tooth disease type 4
"LEUKODYSTROPHY, HYPOMYELINATING, 12"
"SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME"
"MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
IMMUNODEFICIENCY 45
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X"
"SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY"
YUAN-HAREL-LUPSKI SYNDROME
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34"
"EPILEPSY, PROGRESSIVE MYOCLONIC, 10"
SMITH-KINGSMORE SYNDROME
IMMUNODEFICIENCY 44
"SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME"
"POROKERATOSIS 9, MULTIPLE TYPES"
SENIOR-LOKEN SYNDROME 9
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W"
IMMUNODEFICIENCY 42
HEIMLER SYNDROME 2
"CUTIS LAXA, AUTOSOMAL DOMINANT 3"
CRANIOSYNOSTOSIS 6
Kosaki overgrowth syndrome
ADAMS-OLIVER SYNDROME 6
"SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE"
"SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE"
AU-KLINE SYNDROME
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 40"
"EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME"
"IMMUNODEFICIENCY, COMMON VARIABLE, 12"
GLIOMA SUSCEPTIBILITY 9
"SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE"
NOONAN SYNDROME 10
RETINITIS PIGMENTOSA 74
NOONAN SYNDROME 9
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6"
"KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM"
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
RETINITIS PIGMENTOSA 73
"SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION"
"EPILEPSY, PROGRESSIVE MYOCLONIC, 9"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9"
"THYROID CANCER, NONMEDULLARY, 5"
"THYROID CANCER, NONMEDULLARY, 4"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7"
"POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 39"
ACHROMATOPSIA 7
"DEAFNESS, AUTOSOMAL RECESSIVE 104"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14"
CATARACT 44
"OSTEOGENESIS IMPERFECTA, TYPE XVII"
"NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB"
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4"
"LEUKODYSTROPHY, HYPOMYELINATING, 11"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V"
"GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII"
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
"MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE"
"CILIARY DYSKINESIA, PRIMARY, 32"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2"
BETHLEM MYOPATHY 2
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
RETINITIS PIGMENTOSA 72
EXUDATIVE VITREORETINOPATHY 6
"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE"
"EPILEPSY, FAMILIAL TEMPORAL LOBE, 8"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50"
ZIMMERMANN-LABAND SYNDROME 2
"SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE"
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
"CANDIDIASIS, FAMILIAL, 9"
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
"EPILEPSY, FAMILIAL TEMPORAL LOBE, 7"
IMMUNODEFICIENCY 40
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10"
"LEUKODYSTROPHY, HYPOMYELINATING, 10"
"HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION"
"AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE"
"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6"
DYSTONIA 27
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33"
"MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE"
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2"
BRUGADA SYNDROME 9
"DYSTONIA 26, MYOCLONIC"
RETINITIS PIGMENTOSA 71
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 38"
"TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G"
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3"
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4"
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32"
White Sutton syndrome
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 36"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 35"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31"
IMMUNODEFICIENCY 39
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29"
"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3"
"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2"
"MYASTHENIC SYNDROME, CONGENITAL, 18"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13"
"MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"
"MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"
"MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL"
"MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"
"MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL"
"MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL"
"MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY"
"MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 33"
SENIOR-LOKEN SYNDROME 8
"MYASTHENIC SYNDROME, CONGENITAL, 17"
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
LIPOYLTRANSFERASE 1 DEFICIENCY
SINGLETON-MERTEN SYNDROME 2
"PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS"
COLE-CARPENTER SYNDROME 2
LICHTENSTEIN-KNORR SYNDROME
OPTIC ATROPHY 9
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
"SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49"
CATARACT 43
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5"
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
"COENZYME Q10 DEFICIENCY, PRIMARY, 7"
3-methylglutaconic aciduria type 7
"AMELOGENESIS IMPERFECTA, TYPE IF"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 32"
ATAXIA-OCULOMOTOR APRAXIA 4
"CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY"
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
INTERSTITIAL LUNG AND LIVER DISEASE
PREMATURE OVARIAN FAILURE 10
"ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE"
"MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL"
"NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION"
PEELING SKIN SYNDROME 4
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25"
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
Spondylo-ocular syndrome
"MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24"
"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3"
"MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 34"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 33"
RITSCHER-SCHINZEL SYNDROME 2
"TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE"
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
"REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET"
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
"ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY"
"THYROID CANCER, NONMEDULLARY, 2"
SINGLETON-MERTEN SYNDROME 1
"ANEMIA, SIDEROBLASTIC, 4"
Ehlers-Danlos syndrome classic type
CHROMOSOME 10p12-p11 DELETION SYNDROME
"OBESITY (BMIQ14), SUSCEPTIBILITY TO"
"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family)"
"THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y"
"INCONTINENTIA PIGMENTI, ATYPICAL"
"HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME"
TRANSFERRIN VARIANT D(CHI)
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT"
"BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE"
"SPITZ NEVUS, SOMATIC"
"NEVUS SPILUS, SOMATIC"
CHROMOSOME 15q14 DELETION SYNDROME
CHROMOSOME 16p13.2 DELETION SYNDROME
"ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS"
VATER/VACTERL ASSOCIATION
Cardiomyocyte hypertrophy
Oocyte arrest at metaphase I
Abnormality of radial ray
Increased susceptibility to malignancy
Distal acroosteolysis
Early-onset coronary artery disease
"Absent thumb, bilateral"
"Hypoplasia or aplasia of radius, unilateral"
Heart defect (in some patients)
Pterygium colli (in some patients)
Hypertelorism/telecanthus
Eye coloboma (in some patients)
Trigonocephaly/metopic ridge
Microcephaly (-3 to -9 SD)
Intrauterine growth restriction (IUGR)
Fetal hydrops (in some patients)
Pectus (in some patients)
Kyphosis/scoliosis (in some patients)
Prominent nasal root on profile
"Large, squared nose tip"
Retrognathia (in some patients)
Prominent/full/wide cheeks
Inner ear malformation
response to bleomycin
Obstructive sleep apnea hypopnea
"Opioid use disorder, severe"
Overweight or obesity
Unspecified neurodevelopmental disorder
Multiple osteochondroma of long bone
Non-ST Elevated Myocardial Infarction
Microphthalmos co-occurrent with congenital ocular coloboma
Familial Hyperekplexia
Isolated polycystic liver disease
Bilateral Vestibulopathy
Dysplastic tricuspid valve
Frontal fibrosing alopecia
Familial malignant neoplasm of pancreas
Mixed carcinoma
Poorly cohesive carcinoma
Thyroid tumor metastasis
Fetal abnormality
Monoclonal mast cell activation syndrome
Obesity hypoventilation syndrome (OHS)
Food-protein induced enterocolitis syndrome
Irritable bowel syndrome with constipation
Mixed irritable bowel syndrome
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
"Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA]"
Age-related sarcopenia
Atypical femoral fracture
Chronic bladder pain
Autosomal Recessive Osteopetrosis
Autosomal Dominant Osteopetrosis
Branchiootic syndrome
Graham Little Piccardi Lassueur syndrome
Inherited predisposition to essential thrombocythemia
Peripheral resistance to thyroid hormone
Autosomal recessive limb girdle muscular dystrophy type 2B
Familial thyroid dyshormonogenesis
Hepatoportal sclerosis
Distal monosomy 1q
Folinic acid responsive seizure syndrome
Obesity due to melanocortin 4 receptor deficiency
Familial pseudohyperkalemia
Benign adult familial myoclonic epilepsy
Boichis syndrome
Biliary atresia with splenic malformation syndrome
Autosomal recessive sideroblastic anemia
Hyperinsulinism due to HNF4A deficiency
Bile acid CoA ligase deficiency and defective amidation
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Pelizaeus Merzbacher like disease
Syndromic recessive X-linked ichthyosis
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Joubert syndrome with ocular defect
Nanophthalmia
Hypoplastic tibia and postaxial polydactyly syndrome
Spinocerebellar ataxia type 15/16
Genetic recurrent myoglobinuria
FRAXF syndrome
Hereditary pheochromocytoma and paraganglioma
Solitary rectal ulcer syndrome
Chronic intestinal failure
Severe early childhood onset retinal dystrophy
Autosomal dominant late onset Parkinson disease
Dominant beta-thalassemia
Epstein-Barr virus associated gastric carcinoma
1q41q42 microdeletion syndrome
Logopenic progressive aphasia
Jeavons syndrome
Autosomal dominant spondylocostal dysostosis
Multiple endocrine neoplasia type 4
Lissencephaly with cerebellar hypoplasia
Familial Creutzfeldt-Jakob
Paternal uniparental disomy of chromosome 20
Maternal uniparental disomy of chromosome 20
Syndactyly type 1
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 1
Intestinal epithelial dysplasia
Transthyretin related familial amyloid cardiomyopathy
Desmin related myopathy with Mallory body-like inclusions
Atypical Werner syndrome
Posterior cortical atrophy syndrome
Hereditary glucocorticoid resistance
Autosomal dominant optic atrophy plus syndrome
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Young onset Parkinson disease
Familial hypoaldosteronism
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb girdle muscular dystrophy type 2D
Sudden sensorineural hearing loss
Familial spontaneous pneumothorax
Breast Cancer Lymphedema
Cerebrospinal Fluid Hypovolemia
"Dissection, Blood Vessel"
Acute Febrile Encephalopathy
Chemical and Drug Induced Liver Injury
Ciliopathies
Chemically-Induced Liver Toxicity
Cleft alveolar process of maxilla
Coronal synostosis
Bilateral nanophthalmos
Progressive brain disease
Increased size of the mandible
Velopharyngeal dysfunction
Gastrojejunal tube feeding in infancy
Proximal upper limb muscle hypertrophy
Upper limb muscle hypertrophy
Reduced prothrombin antigen
Reduced euglobulin clot lysis time
Reduced antithrombin antigen
Impaired neutrophil chemotaxis
Leukocyte inclusion bodies
Delayed onset bleeding
Decreased level of plasminogen
Abnormal cardiac ventricular function
Facet joint arthrosis
Large knee
Large elbow
Low pulse pressure
Choking episodes
Mizuo phenomenon
Orange discoloured tonsils
Fast-growing nails
Abnormal visual accommodation
Increased C-peptide level
Reduced C-peptide level
Abnormal C-peptide level
Abnormal serum interleukin level
Increased circulating free fatty acid level
Modic type vertebral endplate changes
Periapical tooth abscess
Erythrodontia
Pulmonary venous occlusion
Decreased CSF homovanillic acid
Percussion-induced rapid rolling muscle contractions
Calcium oxalate kidney stones
Undifferentiated large cell carcinoma
Degenerative scoliosis
FRONTOMETAPHYSEAL DYSPLASIA 1
Foot oligodactyly
Mesangial proliferation
Thin eyebrow
Childhood Absence Epilepsy
Presence of foam cells
Spongiform encephalopathy
Neonatal respiratory distress
Senile hyperkeratosis
PATENT DUCTUS ARTERIOSUS 1
"ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO"
Juvenile macular degeneration
Sialidase deficiency
"Polydactyly, Postaxial, Type A1"
Sparse and thin eyebrow
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Residue on Palate
ITK Deficiency
Anaplastic Pleomorphic Xanthoastrocytoma
Cutaneous Malignant Melanoma 2
"DEAFNESS, AUTOSOMAL DOMINANT 66"
"MENTAL RETARDATION, X-LINKED 61"
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Primary cholangiocarcinoma of intrahepatic biliary tract
Collapsed Lung
Benign endometrial stromal neoplasm
FIGO Stage III Ovarian Cancer
HEMOGLOBIN AUBENAS PHENOTYPE
HEMOGLOBIN GAMBARA PHENOTYPE
MIRAGE SYNDROME
"FANCONI ANEMIA, COMPLEMENTATION GROUP R"
Ecstasy related disorders
Neuronal Ceroid Lipofuscinosis Type 4B
HEMOGLOBIN EVANSTON PHENOTYPE
Severe Fever with Thrombocytopenia Syndrome
"AORTIC ANEURYSM, FAMILIAL THORACIC 10"
Perinatal depression in mother
"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE"
"SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY"
BAND HETEROTOPIA
PATENT DUCTUS ARTERIOSUS 2
"Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1"
Adrenal Gland Hyperplasia II
Double-Hit Lymphoma
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
Severe asthma with fungal sensitisation
HIV-associated neurocognitive disorder
Pulmonary artery occlusion
Post cardiac arrest syndrome
Ligamentum flavum hypertrophy
Melatonin deficiency
Activated PI3 kinase delta syndrome
Delayed ischaemic neurological deficit
Lower gastrointestinal perforation
Systemic bacterial infection
Kinesiophobia
Systemic viral infection
Paroxysmal sympathetic hyperactivity
Behavioral and psychological symptoms of dementia
Cortisol deficiency
Reduced facial expression
Pigment dispersion
Carotid artery calcification
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Intraventricular dyssynchrony
Pericardial thickening
Obstructive sleep apnea hypopnea syndrome
C5 palsy
Panperitonitis
Invasive bacterial infection
Erosive arthritis
Aeromonas caviae infection
Adult separation anxiety disorder
Deforming arthritis
Serous Tubal Intraepithelial Carcinoma
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Uterine Corpus High Grade Endometrial Stromal Sarcoma
Metastatic Malignant Solid Neoplasm
Pre-Extensively Drug-Resistant Tuberculosis
MAGT1 Deficiency
WHO Grade III Glioma
Vulvar Adenocarcinoma of Mammary Gland Type
UNC13D Deficiency
Tubulocystic renal cell carcinoma
TERT Deficiency
STXBP2 Deficiency
STAT3 Gain of Function
Refractory Adult Acute Lymphoblastic Leukemia
Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Recurrent Glioblastoma
Perforin Deficiency
Ovotesticular Differences of Sex Development
"Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted"
Metastatic urothelial carcinoma
Metastatic Lung Non-Squamous Non-Small Cell Carcinoma
Major Congenital Anomaly
Infant T Acute Lymphoblastic Leukemia
Infant Acute Undifferentiated Leukemia
Infant Acute Biphenotypic Leukemia
Idiopathic Membranous Glomerulopathy
IFN-gamma Receptor 1 Deficiency
Hyperkalemic Mineralocorticoid Resistance
Epithelioid glioblastoma
RELA fusion-positive ependymoma
"Endocervical Adenocarcinoma, Usual Type"
"Diffuse midline glioma, point mutation K27M in histone H3"
Diffuse Glioma
"Diffuse Astrocytoma, IDH-Wildtype"
DOCK8 Deficiency
"Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form"
Rhabdomyosarcoma of cervix uteri
"B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative"
Atypical Endometriosis
"Anaplastic Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted"
"Anaplastic Astrocytoma, IDH-Wildtype"
"Anaplastic Astrocytoma, IDH-Mutant"
Aldosterone Synthase Deficiency
Adenosine Deaminase 2 Deficiency
acute flaccid myelitis
trachomatis
decreased absolute neurophile count (ANC)
diabetes (mellitus) due to autoimmune process
diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction
idiopathic diabetes (mellitus)
recurrent myocardial infarction
Abnormality of enteric ganglion morphology
Abnormality of mesentery morphology
Anti-liver cytosolic antigen type 1 antibody positivity
Glabellar reflex
Deep cerebral white matter hyperdensities
Periventricular white matter hyperdensities
Congenital shortened small intestine
Abnormal proerythroblast morphology
Rectovestibular fistula
Subcutaneous spheroids
Status cribrosum
Foveal atrophy
Recurrent paroxysmal headache
Emotional neglect
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)
Neuroendocrine tumor G2 (NET G2)
Hyperplastic polyposis syndrome
Basal epidermolysis bullosa simplex
Ischemic vascular dementia
Silent cerebral infarct
Malaria caused by Plasmodium not Plasmodium falciparum
IgG4-related sclerosing cholangitis
Autoimmune myopathy
Frequent episodic tension-type headache
Atypical Parkinsonism
Hypocalcemic rickets
Macroprolactinemia
Familial hyperthyroidism
Congenital central hypothyroidism
Neonatal thrombosis of cerebral venous sinus
Perinatal arterial ischemic stroke
Autoimmune pancreatitis type 1
Groove pancreatitis
Dengue with warning signs
Dengue without warning signs
Primary lactase deficiency
Cryptogenic multifocal ulcerous stenosing enteritis
Familial hemolytic uremic syndrome
Occupational cancer of skin
Primary low grade serous adenocarcinoma of ovary
Benign lymphoepithelial lesion of lacrimal gland
Non-amnestic Alzheimer disease
Pancreatitis due to pancreatic duct obstruction
Distal renal tubular acidosis co-occurrent with sensorineural deafness
Dysspondyloenchondromatosis
Autosomal dominant beta2-microglobulinic amyloidosis
Malignancy-associated membranous nephropathy
Oligocone trichromacy
"Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome"
Hormone sensitive prostate cancer
Agenesis of internal carotid artery
Robinow-like syndrome
Hyperinsulinism due to uncoupling protein 2 deficiency
Infection caused by Loa
Cystic echinococcosis
Infection caused by Human T-lymphotropic virus
Meningitis caused by Streptococcus agalactiae
Autoimmune hepatitis type 2
Autoimmune hepatitis type 1
Acute hemorrhagic ulcer of rectum
Sepsis caused by Pseudomonas aeruginosa
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Acquired hearing loss
Acquired prion disease
Hyperinsulinism due to HNF1A deficiency
Hughes Stovin syndrome
Homocystinuria without methylmalonic aciduria
Familial Alzheimer-like prion disease
Idiopathic premature ovarian failure
Variably protease sensitive prionopathy
Brain dopamine-serotonin vesicular transport disease
BNAR syndrome
Hereditary vascular retinopathy
DEND syndrome
Deafness and intellectual disability Martin Probst type syndrome
Familial thrombocytosis
Ehlers-Danlos syndrome musculocontractural type
Ehlers-Danlos syndrome cardiac valvular type
Cerebroretinal vasculopathy
"Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome"
Deficiency of cathepsin D
Craniofacial ulnar renal syndrome
Cerebro-facio-thoracic dysplasia
Cap polyposis
Acute on chronic hypercapnic respiratory failure
Autosomal dominant macrothrombocytopenia
Attenuated Chédiak-Higashi syndrome
Primary seminoma
Dark yellow urine
Autosomal dominant limb girdle muscular dystrophy type 1A
X-linked sideroblastic anemia with spinocerebellar ataxia
Timothy syndrome type 2
X-linked hereditary sensory and autonomic neuropathy with deafness
Xeroderma pigmentosum and Cockayne syndrome complex
8p11.2 deletion syndrome
6q terminal deletion syndrome
5q35 microduplication syndrome
6q25 microdeletion syndrome
5q14.3 microdeletion syndrome
4q21 microdeletion syndrome
2q32q33 microdeletion syndrome
2q23.1 microdeletion syndrome
2p21 microdeletion syndrome
20p12.3 microdeletion syndrome
1q44 microdeletion syndrome
1p21.3 microdeletion syndrome
16q24.3 microdeletion syndrome
Benign concentric annular macular dystrophy
Cone dystrophy with supernormal rod response
Congenital bile acid synthesis defect type 3
Late-onset junctional epidermolysis bullosa
Leber plus disease
Primary pigmented nodular adrenocortical disease
Progressive cavitating leukoencephalopathy
X-linked intellectual disability with cerebellar hypoplasia syndrome
Recurrent squamous cell carcinoma
VACTERL syndrome with hydrocephalus
X-linked intellectual disability Van Esch type
Fried syndrome
12q14 microdeletion syndrome
Syndromic microphthalmia type 5
14q12 microdeletion syndrome
Congenital analbuminemia
Primary immunodeficiency syndrome due to p14 deficiency
Isolated cryptophthalmos
Acral self-healing collodion baby
Osteomalacia due to vitamin D deficiency
Neuroendocrine tumor of pancreas
Metaplastic gastritis
Dent disease type 2
Dent disease type 1
"Hypercalcemia, Infantile, 1"
"Hypercalcemia, infantile, 2"
Sporadic CJD
OTULIN-related autoinflammatory syndrome
"ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
"HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59"
Yao syndrome
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12"
ANTERIOR SEGMENT DYSGENESIS 8
ANTERIOR SEGMENT DYSGENESIS 6
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6"
"COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS"
RETINITIS PIGMENTOSA 77
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
OPTIC ATROPHY 11
LYMPHATIC MALFORMATION 7
"AMELOGENESIS IMPERFECTA, TYPE IJ"
"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS"
"EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT"
"DYSTONIA 28, CHILDHOOD-ONSET"
"DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49"
"ATRIAL FIBRILLATION, FAMILIAL, 18"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48"
"TOOTH AGENESIS, SELECTIVE, 9"
"GLAUCOMA 3, PRIMARY CONGENITAL, E"
NEPHRONOPHTHISIS 20
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58"
"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE"
"GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES"
"MYOPATHY, MYOFIBRILLAR, 8"
LISSENCEPHALY 8
SECKEL SYNDROME 10
UNCOMBABLE HAIR SYNDROME 3
"3-METHYLGLUTACONIC ACIDURIA, TYPE VIII"
"FANCONI ANEMIA, COMPLEMENTATION GROUP U"
"FANCONI ANEMIA, COMPLEMENTATION GROUP V"
"LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME"
"MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC"
"MYOPIA 25, AUTOSOMAL DOMINANT"
IMMUNODEFICIENCY 49
CONE-ROD DYSTROPHY AND HEARING LOSS
"MYOCLONUS, INTRACTABLE, NEONATAL"
PREIMPLANTATION EMBRYONIC LETHALITY 2
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
"SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE"
"SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED"
"SUDDEN CARDIAC FAILURE, INFANTILE"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6"
SPERMATOGENIC FAILURE 17
"ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY"
"HETEROTAXY, VISCERAL, 8, AUTOSOMAL"
PERIVENTRICULAR NODULAR HETEROTOPIA 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM"
SHASHI-PENA SYNDROME
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57"
SPERMATOGENIC FAILURE 16
"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT"
HAREL-YOON SYNDROME
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
CHITAYAT SYNDROME
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
"DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47"
"SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46"
SIFRIM-HITZ-WEISS SYNDROME
"SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES"
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45"
"ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH"
"NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET"
"MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC"
ANIRIDIA 3
Zhu-Tokita-Takenouchi-Kim syndrome
FRONTOMETAPHYSEAL DYSPLASIA 2
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44"
OROFACIODIGITAL SYNDROME XV
ALAZAMI-YUAN SYNDROME
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56"
RETINITIS PIGMENTOSA 76
JOUBERT SYNDROME 28
JOUBERT SYNDROME 27
BARDET-BIEDL SYNDROME 20
"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3"
"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2"
PEELING SKIN SYNDROME 5
"MYOPATHY, MYOFIBRILLAR, 7"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43"
"MACULAR DYSTROPHY, PATTERNED, 3"
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
THAUVIN-ROBINET-FAIVRE SYNDROME
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41"
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
FAMILIAL ADENOMATOUS POLYPOSIS 4
"GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY"
"CILIARY DYSKINESIA, PRIMARY, 35"
"CILIARY DYSKINESIA, PRIMARY, 34"
"MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE"
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B"
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 5"
"NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3"
"TOOTH AGENESIS, SELECTIVE, 8"
"MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3"
"PORTAL HYPERTENSION, NONCIRRHOTIC"
"MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40"
MEIER-GORLIN SYNDROME 7
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 44"
"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4"
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
"STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET"
BONE MARROW FAILURE SYNDROME 3
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55"
HERMANSKY-PUDLAK SYNDROME 10
"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5"
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26"
"SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE"
"SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS"
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
PATENT DUCTUS ARTERIOSUS 3
"MYOPATHY, DISTAL, 5"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54"
"HYPERALDOSTERONISM, FAMILIAL, TYPE IV"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2F"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H"
RETINITIS PIGMENTOSA 75
LETHAL CONGENITAL CONTRACTURE SYNDROME 10
"HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38"
SPINOCEREBELLAR ATAXIA 43
"NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE"
Hypermanganesemia with dystonia 2
"MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION"
"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3"
"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2"
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 43"
"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 42"
"DEAFNESS, AUTOSOMAL DOMINANT 70"
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
YOU-HOOVER-FONG SYNDROME
SPERMATOGENIC FAILURE 15
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22"
PREMATURE OVARIAN FAILURE 12
PREMATURE OVARIAN FAILURE 11
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 41"
"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE"
"AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT"
"CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION"
COFFIN-SIRIS SYNDROME 5
THROMBOCYTOPENIA 6
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC"
"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2"
"DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET"
HEART AND BRAIN MALFORMATION SYNDROME
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53"
MARFAN LIPODYSTROPHY SYNDROME
"BLEEDING DISORDER, PLATELET-TYPE, 20"
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
"SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE"
"DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR"
"PARKINSON DISEASE 19B, EARLY-ONSET"
IMMUNODEFICIENCY 51
WITTEVEEN-KOLK SYNDROME
"BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS"
CATARACT 47
BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME
"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1"
ANTERIOR SEGMENT DYSGENESIS 5
"MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS"
MEESTER-LOEYS SYNDROME
IMMUNODEFICIENCY 50
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE"
"VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED"
"MENTAL RETARDATION, X-LINKED 105"
"MENTAL RETARDATION, X-LINKED 104"
"MENTAL RETARDATION, X-LINKED 103"
IMMUNODEFICIENCY 47
"BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT"
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
Xq25 TRIPLICATION SYNDROME
"ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
"ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE"
"SANDHOFF DISEASE, CHRONIC"
"TAY-SACHS DISEASE, JUVENILE/ADULT"
DUANE RETRACTION SYNDROME 3
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A"
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
"ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES"
"GM2-GANGLIOSIDOSIS, SUBACUTE"
"GM2-GANGLIOSIDOSIS, LATE ONSET"
"BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF"
"GM2-GANGLIOSIDOSIS, ADULT-ONSET"
"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT"
"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS"
SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION
"BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS"
"ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE"
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
"PSEUDOACHONDROPLASIA, SEVERE"
HB NIIGATA
"BETA-THALASSEMIA INTERMEDIA, DOMINANT"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA"
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
"CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL"
Xq25 DUPLICATION SYNDROME
Bilateral hallux valgus
Vermis hypoplasia
Hippocampal atrophy
Moderate myopia
Medullary cysts
Alveolar bone loss around teeth
"Kenny-Caffey syndrome, type 2"
Abnormality of the intestine
Partial lipodystrophy
Entamoeba histolytica Infection
Angiostrongylus Infections
Multiple biliary hamartomas
Writer's Cramp
Abnormality of the nasal septum
Fibrinogen Deficiency
Dystopia canthorum
Clear cell odontogenic carcinoma
Abnormality of the eye
Loss of eyelashes
Prescription Drug Abuse
Cystinosis
Absence Seizures
Factor XIII deficiency disease
Marijuana Use
Autoimmune Polyglandular Syndrome
Cerebellar edema
Primary Hypothyroidism
Arthritis Pain
Diverticular Diseases
Simpson-Golabi-Behmel syndrome
Gluten intolerance
Hematological abnormality
Infantile hemangioma
Trisomy 18 Syndrome
Reduced factor XI activity
Abnormality of the thyroid gland
Epileptic Seizures
Generalized Lipodystrophy
Myoclonic Seizures
Polynesian Bronchiectasis
Niacin deficiency
Acid reflux
Vacuolated Lymphocyte Count
"Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome"
Dimple chin
Simple partial occipital seizures
COLE-CARPENTER SYNDROME 1
Adolescent Obesity
Cleft secondary palate
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1s
Factor V deficiency
Juvenile Absence Epilepsy
Cardiac Conduction Defects
Growth Hormone Insensitivity Syndrome
Chemokine (C-C Motif) Ligand 19 Measurement
Anaplastic sarcoma
Microcephalic osteodysplastic primordial dwarfism types I and III
Acute severe refractory exacerbation of asthma
Trisomy 13 Syndrome
BARDET-BIEDL SYNDROME 21
Cleft lip or lips
Mitochondrial DNA Depletion Syndrome 12
Consumptive Coagulopathy
Constitutional Mismatch Repair Deficiency Syndrome
Lupus anticoagulant -- finding
Immune-Mediated Coagulopathy
Reduced insulin like growth factor binding protein acid labile subunit level
K ATP Permanent Neonatal Diabetes
Chemokine (C-X-C Motif) Ligand 6 Measurement
Sickle Cell-SS Disease
Factor XI Deficiency
Myokymia of eyelid
Tumour inflammation
MLASA syndrome
Primary familial brain calcification
Oral condyloma acuminatum
Hyperleukocytosis
Dysarthrophonia
Subfebrile
End stage lung disease
Renal tubular injury
Prolonged lymphopenia
Oral candida albicans infection
Immune-mediated hepatitis
Cerebral volume loss
Blood type incompatibility
Hereditary multiple osteochondromas
Panniculus
Transformation to acute myeloid leukaemia
Non-compaction cardiomyopathy
Perimyocarditis
Adrenal nodule
Neutrophil extracellular trap formation
OAT syndrome
Periprocedural myocardial infarction
Opioid use disorder
Gadolinium deposition disease
Non-squamous non-small cell lung cancer
Hypertensive end-organ damage
Pauci-immune glomerulonephritis
Autoimmune thyroid disorder
Radiologically isolated syndrome
Bladder wall thickening
Epstein Barr virus positive mucocutaneous ulcer
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
"17-Alpha-Hydroxylase/17,20 Lyase Deficiency"
Acquired Hypoparathyroidism
Adipsic Diabetes Insipidus
Advanced Head and Neck Carcinoma
Advanced Malignant Solid Neoplasm
Anastomosing Hemangioma
Anemia due to Decreased Production
"B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like"
Bovine Protoporphyria
Central Nervous System Langerhans Cell Histiocytosis
Childhood Melanoma
Classic Congenital Adrenal Hyperplasia
Craniotubular Hyperostosis
Defective Thyroglobulin Synthesis
Diffuse leptomeningeal glioneuronal neoplasm
Early T Acute Lymphoblastic Leukemia
Euthyroid Condition
Factor VIII Inactivation
Feline Lymphoma
Feline Mammary Carcinoma
Feline Oral Squamous Cell Carcinoma
Feline Osteosarcoma
Gingival Squamous Cell Carcinoma
WHO Grade II Glioma
Triple hit lymphoma
Large Cell/Anaplastic Medulloblastoma
MGMT-Unmethylated Glioblastoma
Burkitt-Like Lymphoma with 11q Aberration
Mammary Analog Secretory Carcinoma of Salivary Gland
"Medulloblastoma, Non-WNT/Non-SHH"
"Medulloblastoma, SHH-Activated"
Metastatic Malignant Germ Cell Tumor
Mitochondrial Diabetes
Nutritional Hypophosphatemic Rickets
Nutritional Rickets
Osteoclast-Rich Osteopetrosis
Primary Pigmented Nodular Adrenal Dysplasia
Recurrent Glioma
Rosette-forming glioneuronal neoplasm
Sacral Chordoma
Steroidogenic Acute Regulatory Protein Deficiency
Vitamin D Dependent Rickets 2
Wolff-Chaikoff Phenomenon
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Hypothyroid Goiter
Obesity-Associated Insulin Resistance
STAT5B Deficiency
"Medulloblastoma, WNT-Activated"
Human Granulocytic Anaplasmosis
Subperiosteal bone resorption
Reduced intrathoracic adipose tissue
Glomerular subendothelial electron-dense deposits
Dilatation of the cerebral artery
Complete heart block with broad QRS complexes
Dilatation of the ventricular cavity
Dilatation of the sinus of Valsalva
Dilatation of mesenteric artery
Atrial septal dilatation
Carotid artery dilatation
Thalamic edema
Enlarged mesenteric lymph node
Abnormal brain lactate level by MRS
Abnormal brain choline level by MRS
Reduced brain choline level by MRS
Reduced brain creatine level by MRS
Elevated brain N-acetyl aspartate level by MRS
Incomitant strabismus
Dysgenesis of the thalamus
Abnormal morphology of the hippocampus
Dysgenesis of the hippocampus
Dysgenesis of the basal ganglia
Reduced red cell pyruvate kinase activity
Reduced intraabdominal adipose tissue
Decreased small intestinal mucosa lactase activity
Beaten bronze macular sheen
Atrophic muscularis propria
Poor visual behavior for age
Dependency on intravenous nutrition
Hypoautofluorescent retinal lesion
Abnormal temper tantrums
Fragmented elastic fibers in the dermis
Ground-glass opacification on pulmonary HRCT
Segmental myoclonic seizures
Abnormal apolipoprotein level
Non-rapid eye movement parasomnia
Anti-glutamic acid decarboxylase antibody positivity
Upgaze palsy
Delayed ability to stand
Delayed ability to sit
Decreased circulating beta-2-microglobulin level
Abnormality of the corneal limbus
Limbal edema
Anti-multiple nuclear dots antibody positivity
Abnormal cellular phenotype
Retinal arterial macroaneurysms
Erratic myoclonus
Endocapillary hypercellularity
Anti-thyroid peroxidase antibody positivity
Reticular pattern on pulmonary HRCT
Crazy paving pattern on pulmonary HRCT
Stooped posture
Visual fixation instability
Abnormal spleen morphology
Diffuse alveolar hemorrhage
Abnormal bronchus physiology
Staccato cry
Elevated serum 11-deoxycortisol
Reduced amygdala volume
Testicular adrenal rest tumor
Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF protein
High myoinositol in brain by MRS
Abnormal cell morphology
Increased circulating thyroglobulin level
Abnormality of bladder morphology
Microcoria
Class I obesity
Nevus sebaceus
Hypoplastic hippocampus
Palmoplantar scaling skin
Psoriasiform lesion
Short bowel
Low 1-minute APGAR score
5-minute APGAR score of 1
5-minute APGAR score of 5
1-minute APGAR score of 0
1-minute APGAR score of 1
Palpebral thickening
Elevated gamma-glutamyltransferase activity
Abnormal pulmonary vein morphology
Abnormal vena cava morphology
Decreased CSF/serum albumin ratio
Reduced brain glutamine level by MRS
Granulomatous cholangitis
Abnormal pancreatic duct morphology
Thin-cap fibroatheroma
Idiopathic non-cirrhotic portal hypertension
Elevated carcinoembryonic antigen level
Elevated carcinoma antigen 125 level
Acral blistering
Tarsal sclerosis
Impairment of activities of daily living
Impaired toileting ability
Impaired feeding ability
Impaired continence
Abnormal response to ACTH stimulation test
Impaired cortisol response to insulin stimulation test
Impaired growth-hormone response to insulin stimulation test
Decreased prealbumin level
Absent pubertal growth spurt
Insulin receptor antibody positivity
Decreased fibular diameter
Two-raphe bicuspid aortic valve
Impaired clot retraction
Abnormal B-type natriuretic peptide level
Frog-leg posture
Impaired oral bolus formation
Membranous vitreous appearance
Decreased platelet glycoprotein Ib
Thinning of Descemet membrane
Impaired oropharyngeal swallow response
Sectoral retinitis pigmentosa
Finger flexor weakness
Axial muscle atrophy
Skeletal muscle steatosis
Abnormal location of the eyebrow
Heliotrope rash
Hypoplasia of the olfactory bulb
Decreased proportion of CD3-positive T cells
Limb myoclonus
Fragmented sleep
Dilatation of celiac artery
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Fish odor
Abnormality of the periodontium
Unilateral alveolar cleft of maxilla
Iris flocculi
Abnormal cardiac exercise stress test
Abnormal serum dehydroepiandrosterone level
Cotton wool plaques
Monoclonal immunoglobulin M proteinemia
Abnormal visual fixation
Increased lactate dehydrogenase activity
"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED"
"MENTAL RETARDATION, X-LINKED 106"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35"
Severe feeding problems
Focal cortical dysplasia type IIa
Focal cortical dysplasia type IIb
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Hypomineralized amelogenesis imperfecta
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
"MYASTHENIC SYNDROME, CONGENITAL, 22"
"NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51"
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
HYPERPARATHYROIDISM 4
"AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52"
"CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER"
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
PEROXISOME BIOGENESIS DISORDER 10B
"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2"
"HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT"
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54"
"ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE"
"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION"
"SCLEROSING CHOLANGITIS, NEONATAL"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq"
ANAUXETIC DYSPLASIA 2
PSEUDO-TORCH SYNDROME 2
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID"
"MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY"
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
DIAMOND-BLACKFAN ANEMIA 16
DIAMOND-BLACKFAN ANEMIA 17
"BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY"
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60"
RETINITIS PIGMENTOSA 78
LOPES-MACIEL-RODAN SYNDROME
CRANIOSYNOSTOSIS 7
"THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS"
PREMATURE OVARIAN FAILURE 13
"BLEEDING DISORDER, PLATELET-TYPE, 21"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
"INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES"
RETINITIS PIGMENTOSA 79
TOWNES-BROCKS SYNDROME 2
"ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT"
SPECIFIC GRANULE DEFICIENCY 2
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
"46,XX SEX REVERSAL 4"
"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES"
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
IMMUNODEFICIENCY 52
STANKIEWICZ-ISIDOR SYNDROME
"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS"
"MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT"
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
"NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
RAHMAN SYNDROME
"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2"
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
GABRIELE-DE VRIES SYNDROME
"SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY"
COHEN-GIBSON SYNDROME
MEIER-GORLIN SYNDROME 8
PERRAULT SYNDROME 6
"HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5"
APOE5 VARIANT
"ADRENAL INSUFFICIENCY, NR5A1-RELATED"
"FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC"
"CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO"
RETINAL DYSTROPHY WITH MACULAR STAPHYLOMA
FCD IIA
FCD IIB
Aneurysm or dissection
Epileptic Syndromes
Food Addiction
Sleep Onset Latency
Gender-Based Violence
Xp21 Contiguous Gene Deletion Syndrome
Diverticular Bleeding
Giardia duodenalis Infection
Heroin Smoking
XMRV Infection
Generalized Absence Seizures
Moral Injury
HIV Coinfection
Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
Isolated bone marrow mastocytosis
Light chain (AL) amyloidosis
Senile systemic amyloidosis (SSA)
bipolar type I disorder
Group 3 pulmonary hypertension
Heart failure with reduced ejection fraction [HFrEF]
Heart failure with preserved ejection fraction [HFpEF]
Stage D heart failure
Rheumatoid arthritis in remission
Squamous non-small cell lung cancer
Facial onset sensory and motor neuronopathy syndrome
Endocrine-cerebro-osteodysplasia syndrome
Familial acute necrotizing encephalopathy
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Polyvalvular heart disease syndrome
"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome"
Natural killer cell enteropathy
Peripheral neuropathy with sensorineural hearing impairment syndrome
Length-dependent peripheral neuropathy
Severe generalized recessive dystrophic epidermolysis bullosa
Habitual snoring
Graves' disease in remission
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
McLeod neuroacanthocytosis syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Carbohydrate deficient glycoprotein syndrome type 1o
"46,XY partial gonadal dysgenesis"
Deep endometriosis
Duodenal ulcer caused by Helicobacter pylori
Atypical juvenile parkinsonism
Acquired purpura fulminans
Omodysplasia
Monogenic autoinflammatory syndrome
Vasculitis of medium sized vessel
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Autosomal dominant primary hypomagnesemia with hypocalciuria
Isolated thrombocytopenia
Cirrhotic cardiomyopathy
Centripetalis recessive dystrophic epidermolysis bullosa
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Bathing suit ichthyosis
Butterfly-shaped pigmentary macular dystrophy
Genetic lipodystrophy
Keratinopathic ichthyosis
Hypnotic withdrawal
Sporadic Parkinson disease
Peripheral spondyloarthritis
Severe pediatric obstructive sleep apnea
Methamphetamine intoxication
Chronic cerebrospinal venous insufficiency
Autosomal dominant tubulointerstitial kidney disease
Familial malignant melanoma of skin
Prolonged grief disorder
Pancreatic Intraductal Papillary Mucinous Neoplasm
Mitotically active leiomyoma
Epileptic encephalopathy with global cerebral demyelination
4p16.3 microduplication syndrome
Endometrial carcinosarcoma
Coenzyme A synthase protein associated neurodegeneration
Autosomal recessive limb girdle muscular dystrophy type 2S
Acral dystrophic epidermolysis bullosa
Epithelioid angiomyolipoma
Acinar cell cystadenoma
Fibromatosis-like metaplastic carcinoma
Clear cell papillary renal cell carcinoma
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 38
Wolfram-like syndrome
Sporadic adult-onset ataxia of unknown etiology
Ectopic pituitary adenoma
MiT family translocation renal cell carcinoma
Mucinous tubular and spindle cell carcinoma
B-cell lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma
Anaplastic lymphoma kinase positive anaplastic large cell lymphoma
Stroke co-occurrent with migraine
Partial trisomy of chromosome 17
Non-intestinal type adenocarcinoma
Pneumonia caused by Gram positive bacteria
Aggressive papillary tumor
Early-onset Lafora body disease
Chronic pulmonary aspergillosis
Eosinophilic meningitis due to Angiostrongylus cantonensis
Epilepsy of infancy with migrating focal seizures
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
17q12 microdeletion syndrome
Serrated hyperplastic polyposis
Abnormal macular morphology
Stage II Breast Cancer AJCC v6 and v7
Stage I Rectal Cancer AJCC v6 and v7
Stage II Cutaneous Melanoma AJCC v6 and v7
Stage IV Cutaneous Melanoma AJCC v6 and v7
Stage 0 Cutaneous Melanoma AJCC v6 and v7
Stage 0 Lung Cancer AJCC v6 and v7
Stage 0 Breast Cancer AJCC v6 and v7
Stage 0 Colon Cancer AJCC v6 and v7
Erythroleukemia (Erythroid/Myeloid)
Pure Erythroid Leukemia
Pterygium of eye
Immunoglobulin G subclass deficiency (finding)
Stage I Colorectal Cancer AJCC v6 and v7
Stage II Uterine Corpus Cancer AJCC v6
Otospondylomegaepiphyseal dysplasia
Stage IV Breast Cancer AJCC v6 and v7
Stage 0 Lung Adenocarcinoma AJCC v6 and v7
Stage I Uterine Corpus Cancer AJCC v6
Stage IV Uterine Corpus Cancer AJCC v6
Stage 0 Gastric Cancer AJCC v6 and v7
Stage I Pancreatic Cancer AJCC v6 and v7
Stage IV Pancreatic Cancer AJCC v6 and v7
Abnormality of the basal ganglia
Congenital atresia of extrahepatic bile duct
Stage I Colon Cancer AJCC v6 and v7
Polyarticular juvenile idiopathic arthritis
Complete Trisomy 21 Syndrome
Childhood Overweight
Refractory Acute Lymphoblastic Leukemia
Glomerulopathy Assessment
Hunger Vital Sign
Pseudomyotonia (finding)
Stage III Adult Liver Cancer AJCC v7
Stage IIIC Adult Liver Cancer AJCC v7
Lung Adenocarcinoma In Situ
SPINOCEREBELLAR ATAXIA 44
"FANCONI ANEMIA, COMPLEMENTATION GROUP W"
Neck Pain Score 1
Peripheral precocious puberty
AUDITORY NEUROPATHY AND OPTIC ATROPHY
"DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION"
Telangiectasia of macula lutea
Tubular Atrophy Assessment
Stage IV Pancreatic Cancer AJCC v8
Stage III Hepatocellular Carcinoma AJCC v7
Stage I Lung Cancer AJCC v7
Stage III Lung Cancer AJCC v7
Hepatocyte Growth Factor Measurement
Nerve Growth Factor Measurement
Invasive Mucinous Lung Adenocarcinoma
HELIX SYNDROME
Brachial Amyotrophic Diplegia
Recurrent Anaplastic Astrocytoma
Atypical Spitz Nevus
Acrodysostosis 1
Bronchial artery aneurysm
Biventricular dilatation
MSI-high
Sprue-like enteropathy
Multidrug resistant pulmonary tuberculosis
Axonal edema
Fracture infection
Occult hepatitis B
Superior semicircular canal dehiscence
Thoracic myelopathy
Atherogenic dyslipidaemia
Complicated intra-abdominal infection
Complicated pyelonephritis
Philadelphia positive acute lymphocytic leukaemia
Low anterior resection syndrome
Hypertrophic olivary degeneration
Segawa syndrome
Bile acid diarrhea
Patella baja
Chronic rhinosinusitis with nasal polyps
Euglycaemic diabetic ketoacidosis
Intensive care unit delirium
Trisomy 4p
Complicated atherosclerosis
Double expressor lymphoma
Duodenal-type follicular lymphoma
In situ follicular lymphoma
"High-grade B-cell lymphoma, with MYC and BCL2 and/or BCL6 rearrangements"
Autoimmune anaemia
Lumbodynia
Sellar lesion
MSI-low
Uncomplicated pyelonephritis
Advanced lung cancer
Hamster Melanoma
Mucosal Melanoma of the Head and Neck
Oral Intraepithelial Neoplasia
cutaneous squamous cell carcinoma of the head and neck
Recurrent Classic Hodgkin Lymphoma
stage IVA gastric cancer
Recurrent Head and Neck Squamous Cell Carcinoma
Metastatic Paraganglioma
Refractory Classic Hodgkin Lymphoma
Refractory Neuroblastoma
Refractory Lymphoma
Recurrent Lymphoma
Stage I Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8
Stage IIA Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8
Stage IIIB Colon Cancer AJCC v8
Stage IIIC Colon Cancer AJCC v8
Stage IV Colon Cancer AJCC v8
Stage I Rectal Cancer AJCC v8
Stage II Rectal Cancer AJCC v8
Stage III Rectal Cancer AJCC v8
Stage IV Rectal Cancer AJCC v8
Chicken Hepatoma
Feline Fibrosarcoma
Hamster Cholangiocarcinoma
Rainbow Trout Hepatoma
Xiphophorus Melanoma
Stage 0 Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
Eyelid Sebaceous Gland Carcinoma
Hamster Insulinoma
Quail Fibrosarcoma
Hamster Fibrosarcoma
Walleye Dermal Sarcoma
Chicken Lymphoma
Fish Melanoma
Rectal Neuroendocrine Tumor
Stage I Thymoma AJCC v8
Stage II Thymoma AJCC v8
Stage IV Thymoma AJCC v8
Stage I Lung Cancer AJCC v8
Stage IB Lung Cancer AJCC v8
Stage III Lung Cancer AJCC v8
Stage IV Lung Cancer AJCC v8
Refractory Erdheim-Chester Disease
Lung Non-Keratinizing Squamous Cell Carcinoma
Intermediate Atypical Prostate Carcinoma
Tricuspid Valve Regurgitation Velocity
Pleomorphic lobular carcinoma in situ of breast
Visceral Crisis
In Situ Mantle Cell Neoplasia
High Risk Myelodysplastic Syndrome
Breast implant-associated anaplastic large cell lymphoma
Corpuscular Hemoglobin Concentration Mean
Advanced Head and Neck Squamous Cell Carcinoma
Anatomic Stage I Breast Cancer AJCC v8
Anatomic Stage IA Breast Cancer AJCC v8
Anatomic Stage II Breast Cancer AJCC v8
Anatomic Stage III Breast Cancer AJCC v8
Anatomic Stage IIIA Breast Cancer AJCC v8
Anatomic Stage IIIB Breast Cancer AJCC v8
Anatomic Stage IV Breast Cancer AJCC v8
Prognostic Stage I Breast Cancer AJCC v8
Prognostic Stage IA Breast Cancer AJCC v8
Malignant Neoplasm of Lung - Multiple Primary Sites
Prognostic Stage II Breast Cancer AJCC v8
Prognostic Stage III Breast Cancer AJCC v8
Prognostic Stage IIIA Breast Cancer AJCC v8
Prognostic Stage IIIB Breast Cancer AJCC v8
Prognostic Stage IV Breast Cancer AJCC v8
Acute myeloid leukaemia refractory
Devil Facial Tumor Disease
Recurrent Atypical Teratoid/Rhabdoid Tumor
Fatty Liver Disease
Opioid Abuse and Addiction
Light induced retinopathy
Subretinal deposits
Elevated circulating ribitol concentration
Abnormal pulmonary valve cusp morphology
Abdominal situs ambiguus
Bronchial isomerism
Reduced granulocyte CD59 level
Abnormally low T cell receptor excision circle level
Elevated propionylcarnitine level
Sub-RPE deposits
Abnormal thyroid hormone level
Mucinous gastric carcinoma
Mucinous colorectal carcinoma
Hemangioma of the lip
Abnormal mitral valve physiology
Negative affectivity
Pulmonary opacity
Penile freckling
Oral mucosa nodule
Monotonic speech
Abnormal speech prosody
Increased circulating osteocalcin level
Small cerebellar cortex
Abnormal morphology of the cerebellar cortex
Short telomere length
Abnormal chromosome morphology
Abnormal lymphocyte physiology
Impaired antigen-specific response
Reduced antigen-specific T cell proliferation
"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells"
Reduced proportion of naive T cells
Abnormal CD4:CD8 ratio
Abnormal proportion of CD8 T cells
Abnormal proportion of CD4 T cells
Reduced MHC II surface expression
Megakaryocyte nucleus hypolobulation
Decreased lymphocyte proliferation in response to mitogen
Cold paresis
Sleep onset Insomnia
Transthyretin cardiac amyloidosis
Cardiomyocyte mitochondrial proliferation
Internal carotid artery calcification
Peripheral arterial calcification
Coronary sinus enlargement
Ichthyosis follicularis
Abnormal perifollicular morphology
Malalignment of the great toenail
Triangular tibia
Internally nucleated skeletal muscle fibers
Abnormal incisura morphology
Decreased circulating dehydroepiandrosterone level
Striatal T2 hyperintensity
Abnormal morphology of right ventricular trabeculae
Abnormal morphology of left ventricular trabeculae
Optic nerve misrouting
Increased mean corpuscular hemoglobin concentration
Premature occlusive vascular stenosis
Acute lung injury/Acute respiratory distress syndrome (ARDS)
Major psychiatric illness
Drug abuse or dependence
"Non-Alzheimer's dementia (e.g., Lewy body dementia, vascular or multi-infarct dementia; mixed dementia; frontotemporal dementia such as Pick's disease; and dementia related to stroke, Parkinson's or Creutzfeldt-Jakob diseases)"
"PITUITARY ADENOMA 1, MULTIPLE TYPES"
"EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2"
MARSILI SYNDROME
"COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY"
Alpha-aminoadipic aciduria
"MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS"
"GALLOWAY-MOWAT SYNDROME 2, X-LINKED"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE"
"MYOPIA 26, X-LINKED, FEMALE-LIMITED"
Multilobulated spleen
Supraumbilical raphe
"PITUITARY ADENOMA 5, MULTIPLE TYPES"
MECKEL SYNDROME 13
JOUBERT SYNDROME 29
OROFACIODIGITAL SYNDROME XVI
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14"
EXUDATIVE VITREORETINOPATHY 7
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13"
SPERMATOGENIC FAILURE 18
Absent sperm flagella
Short sperm flagella
Coiled sperm flagella
"CILIARY DYSKINESIA, PRIMARY, 37"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25"
IMMUNODEFICIENCY 53
SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 20
BIRK-LANDAU-PEREZ SYNDROME
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 45"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 46"
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
"MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES"
"DEAFNESS, AUTOSOMAL DOMINANT 71"
"DEAFNESS, AUTOSOMAL DOMINANT 72"
"AMELOGENESIS IMPERFECTA, TYPE IIIB"
"NEPHROTIC SYNDROME, TYPE 15"
POLYCYSTIC KIDNEY DISEASE 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
SKRABAN-DEARDORFF SYNDROME
JOUBERT SYNDROME 30
"FIBROMATOSIS, GINGIVAL, 5"
SCHIZOPHRENIA 19
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 47"
"DEAFNESS, AUTOSOMAL RECESSIVE 106"
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
"DEAFNESS, AUTOSOMAL RECESSIVE 107"
"CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY"
"POLYDACTYLY, POSTAXIAL, TYPE A7"
"CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES"
SPERMATOGENIC FAILURE 21
"DEAFNESS, AUTOSOMAL RECESSIVE 108"
"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1"
"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2"
"JOINT LAXITY, SHORT STATURE, AND MYOPIA"
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
Combined oxidative phosphorylation deficiency
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56"
FRASER SYNDROME 2
FRASER SYNDROME 3
"ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES"
"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY"
"NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY"
"MYOPATHY, MITOCHONDRIAL, AND ATAXIA"
BLEPHAROCHEILODONTIC SYNDROME 2
PILAROWSKI-BJORNSSON SYNDROME
"PITUITARY ADENOMA 3, MULTIPLE TYPES"
OVARIAN DYSGENESIS 5
AL KAISSI SYNDROME
"PONTOCEREBELLAR HYPOPLASIA, TYPE 11"
"3-METHYLGLUTACONIC ACIDURIA, TYPE IX"
SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 23
"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES"
"NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES"
"EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1"
OOCYTE MATURATION DEFECT 3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 7"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX"
GALLOWAY-MOWAT SYNDROME 3
GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 5
"FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION"
OOCYTE MATURATION DEFECT 4
"IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA"
SWEENEY-COX SYNDROME
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 48"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 49"
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
JOUBERT SYNDROME 32
"MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION"
JOUBERT SYNDROME 31
"LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET"
"SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES"
"IMMUNODEFICIENCY, COMMON VARIABLE, 14"
JOUBERT SYNDROME 33
KLEEFSTRA SYNDROME 2
Thick ear helices
SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 46
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61"
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
RETINITIS PIGMENTOSA 80
"NEPHROTIC SYNDROME, TYPE 16"
Megakaryocyte dysplasia
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 50"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 51"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 52"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 53"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 54"
"MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE"
"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY"
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
RENAL HYPODYSPLASIA/APLASIA 3
"NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER"
COFFIN-SIRIS SYNDROME 6
GELEOPHYSIC DYSPLASIA 3
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
GLUCOCORTICOID DEFICIENCY 5
"EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT"
"CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE"
"PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC"
"NEPHROTIC SYNDROME, TYPE 14"
Hydropic leiomyoma
Carcinoid syndrome diarrhea
Anxiety in pregnancy
Microsatellite instability-high solid malignant tumor
Protracted bronchitis caused by bacterium
Clinical malaria
Adult-onset immunodeficiency
Gaming disorder
Postmenopausal osteopenia
Osteopenia due to disuse
Narcolepsy type 1
Primary osteosarcoma
Atrioventricular reciprocating tachycardia
Localized cutaneous leishmaniasis
Acute obstructive cholangitis
Neonatal disorder of endocrine system
PIK3CA related overgrowth syndrome
Microsatellite instability-high colorectal cancer
Fibropolycystic disease of liver
Chronic visceral pain
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
Spontaneous intracranial hemorrhage
Epigenetic disorder
Classical cystic fibrosis
Atypical cystic fibrosis
Congenital obstructive hydrocephalus
Imprinting error
Chronic pain following trauma
Abuse of synthetic cathinone
Sepsis caused by Klebsiella pneumoniae
Organ surgical site infection
Left renal agenesis
Exacerbation of allergic asthma
Hypertrichosis cubiti short stature
Unilateral lobar pulmonary agenesis
Colon adenoma
Aplasia/hypoplasia of the extremities
Small airways disease
Hypertrophic obstructive cardiomyopathy
Cystic medial necrosis
Seckel syndrome 1
"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1"
"Robinow Syndrome, Autosomal Dominant"
SOTOS SYNDROME 1
NEU-LAXOVA SYNDROME 1
"Schwartz-Jampel Syndrome, Type 1"
FRASER SYNDROME 1
TOWNES-BROCKS SYNDROME 1
Adams-Oliver syndrome 1
SCLEROSTEOSIS 1
Leopard Syndrome 1
Clinodactyly
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
Submucous cleft palate
Bifid uvula
Ureter duplex
Ovotestis
Congenital absence of penis
Micropenis
Situs inversus totalis
Desquamative gingivitis
"Hypophosphatemic Rickets, Autosomal Recessive, 1"
"Hyperuricemic Nephropathy, Familial Juvenile 1"
Ehlers-Danlos syndrome kyphoscoliotic type
"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1"
"Amyloid Polyneuropathy, Iowa Type"
"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1"
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
FANCONI RENOTUBULAR SYNDROME 1
Oculocutaneous albinism type 1A
Methylcrotonyl-CoA carboxylase deficiency
Paroxysmal Nonkinesigenic Dyskinesia 1
Buphthalmos
Dominant hereditary optic atrophy
Jervell And Lange-Nielsen Syndrome 1
CARPENTER SYNDROME 1
X-linked sideroblastic anemia
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
"Hemophagocytic Lymphohistiocytosis, Familial, 1"
Chilblain lupus erythematosus
Hip pain
Flared nostrils abnormality
Abducens Nerve Palsy
Intention tremor
Kinetic tremor
Focal segmental glomerulosclerosis 1
Stage IB Cervical Cancer AJCC v6 and v7
refractory multiple myeloma
Refractory Hairy Cell Leukemia
Grade III Childhood Astrocytoma
Early Infantile Epileptic Encephalopathy 6
"EPILEPSY, HOT WATER, 1"
X-linked hereditary motor and sensory neuropathy
"Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1"
Congenital agranulocytosis
SPECIFIC GRANULE DEFICIENCY 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
"Fibromatosis, Gingival, Type 1"
Senior-Loken Syndrome 1
Truncal obesity
"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1"
Microcephaly (physical finding)
Narrow nasal bridge
Rachitic rosary
Equinovarus deformity of foot
Abnormal granulocyte morphology
Joubert syndrome 1
2-3 toe syndactyly
Cranioectodermal dysplasia
"MYOFIBROMATOSIS, INFANTILE, 1"
UNCOMBABLE HAIR SYNDROME 1
Cerebral cortical atrophy
Brain atrophy
"ESOPHAGITIS, EOSINOPHILIC, 1"
Familial renal hypouricemia
Increased HDL cholesterol concentration
"SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1"
Surface epithelial-stromal tumor
"Biliary Cirrhosis, Primary, 1"
Abnormal renal morphology
Noonan Syndrome 1
"EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1"
Idiopathic basal ganglia calcification 1
Granulocytopenic disorder
Opiate Abuse
Congenital talipes calcaneovalgus
Ichthyosis Congenita I
Cystic liver disease
Recurrent pancreatitis
Pigmentary retinal dystrophy
Deuteranopia
"Erythrocytosis familial, 1"
Stage 0is Bladder Urothelial Carcinoma AJCC v6 and v7
Long QT Syndrome 1
Congenital Dysplasia Of The Hip
Esophageal Stricture
Altman type IV sacrococcygeal teratoma
Exodeviation
"Keratoderma, Palmoplantar"
Laryngismus stridulus
"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1"
Generalized osteoporosis
"Periodontitis, Aggressive, 1"
Adrenal Gland Pheochromocytoma
Paralysis of diaphragm
Malignant neoplasm of soft tissue
Sarcoma of soft tissue
Sleep-Disordered Breathing
Urethral stricture
Wolfram Syndrome 1
Retinal vascular proliferation
Branchiootorenal Syndrome 1
Abnormality of chromosome stability
Rod-Cone Dystrophy
Pigmentary retinopathy
Primary Ciliary Dyskinesia
PERRAULT SYNDROME 1
Encephalocele
Esodeviation
Waldenstrom's macroglobulinaemia refractory
Excessive daytime sleepiness
Stage III Cervical Cancer AJCC v6 and v7
Recurrent infections of the middle ear
Protanopia
"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1"
"Convulsions, Benign Familial Infantile, 1"
Kleefstra syndrome
GALLOWAY-MOWAT SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
FEINGOLD SYNDROME 1
"Knobloch Syndrome, Type I"
RITSCHER-SCHINZEL SYNDROME 1
Brown-Vialetto-Van Laere syndrome
Brugada Syndrome 1
Oguchi Disease 1
Megaloblastic Anemia 1
Symphalangism-brachydactyly syndrome
Intralobar nephroblastomatosis
Perilobar nephroblastomatosis
Talipes transversoplanus
Eyelid myoclonias
Cornelia de Lange Syndrome 1
Diaphyseal dysplasia
Diaphyseal sclerosis
HYPOPLASTIC LEFT HEART SYNDROME 1
Asphyxiating Thoracic Dystrophy 1
Juvenile Myoclonic Epilepsy of Janz
Vesicoureteral Reflux 1
RUBINSTEIN-TAYBI SYNDROME 1
Ullrich congenital muscular dystrophy
"Telangiectasia, Hereditary Hemorrhagic, Type 1"
"Ophthalmoplegia, Progressive Supranuclear"
"Supranuclear Palsy, Progressive, 1"
VAN DER WOUDE SYNDROME 1
Stage IIB Cervical Cancer AJCC v6 and v7
"Choroidal Dystrophy, Central Areolar 1"
Toxemia of pregnancy
Familial Cold Autoinflammatory Syndrome 1
"Cholestasis, progressive familial intrahepatic 1"
"Cholestasis, benign recurrent intrahepatic 1"
OTOSCLEROSIS 1
"Craniosynostosis, Type 1"
Total anomalous pulmonary venous return
Total Anomalous Pulmonary Venous Return 1
Pulmonary Venous Return Anomaly
"Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus"
Acute Inflammatory Demyelinating Polyneuropathy
"Gait Disturbance, CTCAE"
"Anal Stenosis, CTCAE"
VAN MALDERGEM SYNDROME 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
"Myopathy, Centronuclear, 1"
"MACULAR DYSTROPHY, VITELLIFORM, 1"
HYPEREKPLEXIA 1
"Loeys-Dietz Syndrome, Type 1a"
"Epilepsy, Familial Temporal Lobe 1"
"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1"
ATRIAL STANDSTILL 1
"Sertoli cell-only syndrome, type 1"
Familial Isolated Hyperparathyroidism
"ACNE INVERSA, FAMILIAL, 1"
"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1"
ANAUXETIC DYSPLASIA 1
GLUT1 DEFICIENCY SYNDROME 1
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
"Lissencephaly, X-Linked, 1"
Bilateral Periventricular Nodular Heterotopia
Sclerotic vertebral endplates
"Albers-Schonberg Disease, Autosomal Recessive"
Mosaic variegated aneuploidy syndrome
Miyoshi Muscular Dystrophy 1
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1"
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
HYPOTRICHOSIS 1
"Microphthalmos, Autosomal Recessive"
Short forearm
Nephronophthisis 1
HEIMLER SYNDROME 1
Familial Multiple Coagulation Factor Deficiency I
TRICHOHEPATOENTERIC SYNDROME 1
"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1"
Arthrogryposis with renal dysfunction and cholestasis syndrome
"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1"
AMR Syndrome
BLEPHAROCHEILODONTIC SYNDROME 1
Tibial aplasia and ectrodactyly syndrome
Acanthocytosis With Hypobetalipoproteinemia
ANTERIOR SEGMENT DYSGENESIS 1
"Amyotrophic Lateral Sclerosis, Familial"
Mitochondrial DNA Depletion Syndrome 1
Auriculocondylar syndrome 1
"Porencephaly, Type 1, Autosomal Dominant"
"MACULAR DYSTROPHY, PATTERNED, 1"
Episodic Kinesigenic Dyskinesia 1
MEIER-GORLIN SYNDROME 1
WEILL-MARCHESANI SYNDROME 1
"EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1"
Distal Myopathy 1
Gonadotropin deficiency
Stage IS Testicular Cancer AJCC v6 and v7
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
"Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus"
Cortical dysplasia with focal epilepsy syndrome
ABDOMINAL OBESITY-METABOLIC SYNDROME 1
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1"
Mandibular pain
"Pulmonary Hypertension, Primary, 1"
X-linked infantile spasms
PSEUDO-TORCH SYNDROME 1
Premature Ovarian Failure 1
"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME"
"Polyarthritis, Juvenile, Rheumatoid Factor Negative"
Dowling-Degos disease 1
Polymorphic Ventricular Tachycardia by ECG Finding
Nevus Sebaceus of Jadassohn
Lynch Syndrome
"EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1"
Typical absence seizures
Reoviral infection
Familial acromegaly
Cardiac iron overload
Trichoblastic carcinoma
Broad autism phenotype
Autoimmune lung disease
B-cell aplasia
Dyschromatosis
Hereditary angioedema with normal C1 esterase inhibitor
Neurogenic tumour
Gastrointestinal adenocarcinoma
Obesity cardiomyopathy
Congenital Zika syndrome
Myopic conus
Myopic traction maculopathy
Complicated urinary tract infection
Complicated skin and skin structure infection
Acute bacterial skin and skin structure infection
CSSSI
ABSSSI
Unexplained chronic cough
Refractory chronic cough
Idiopathic granulomatous mastitis
Multiple sclerosis lesion
PHVD
Neurocognitive deficit
Temporomandibular joint osteoarthritis
Hereditary angioedema with normal C1 inhibitor
Metastatic gastrointestinal adenocarcinoma
TAFRO syndrome
Intracranial haemangiopericytoma
Subclavicular lymphadenopathy
Subclinical leaflet thrombosis
"Rhinorrhea, CTCAE"
"Portal Vein Thrombosis, CTCAE"
Stage I Ovarian Cancer AJCC v8
Stage I Prostate Cancer AJCC v8
"Epilepsy, Minor"
Miscarriage
"Myoclonic Epilepsy, Adolescent"
"Irritability, CTCAE"
"Generalized Muscle Weakness, CTCAE"
"Hypomagnesemia, CTCAE"
"Agitation, CTCAE 5.0"
"Genital Edema, CTCAE"
Stage IB1 Cervical Cancer AJCC v8
"Productive Cough, CTCAE"
"Ear Pain, CTCAE"
Chemokine (C-C Motif) Ligand 21 Measurement
"Avascular Necrosis, CTCAE"
"Anal Pain, CTCAE 5"
"Myoclonic Epilepsy, Juvenile, 1"
Neurolymphomatosis
Interleukin 1 Receptor-Like 1 Measurement
"Left Ventricular Systolic Dysfunction, CTCAE 5.0"
Stage II Ovarian Cancer AJCC v8
Cystic Echinocccosis
Impulsive Petit Mal Epilepsy
"Periorbital Edema, CTCAE"
Stage IIB Cervical Cancer AJCC v8
Stage III Cervical Cancer AJCC v8
Infantile Obesity
Stage III Ovarian Cancer AJCC v8
"Arterial Injury, CTCAE"
"Rectal Stenosis, CTCAE"
Stage IV Ovarian Cancer AJCC v8
Absence Seizure Disorder
"Spasticity, CTCAE"
Stage IV Prostate Cancer AJCC v8
Stage IV Renal Cell Cancer AJCC v8
"Vaginal Dryness, CTCAE 5.0"
"Ventricular Arrhythmia, CTCAE 5.0"
"Memory Impairment, CTCAE 5.0"
"Superficial Thrombophlebitis, CTCAE"
"Hyperkeratosis, CTCAE"
"Urinary Urgency, CTCAE 5"
Uveoretinal Coloboma
Isomerism (body)
"Nystagmus, CTCAE 5.0"
"Body Odor, CTCAE"
"Bone Pain, CTCAE 5.0"
Childhood Brain Glioblastoma
"Diabetes Mellitus, Sudden-Onset"
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
"Hepatic Necrosis, CTCAE 5.0"
"Paroxysmal Atrial Tachycardia, CTCAE"
Duchenne or Becker muscular dystrophy
IgE-mediated food allergy
"FANCONI ANEMIA, COMPLEMENTATION GROUP S"
"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3"
Amyloidosis cutis dyschromia
"Hypermagnesemia, CTCAE"
"Generalized Edema, CTCAE"
Stage IS Testicular Cancer AJCC v8
Stage A Chronic Lymphocytic Leukemia
Refractory B Acute Lymphoblastic Leukemia
Pulmonary Artery Intimal Sarcoma
Recurrent Malignant Glioma
Refractory Rhabdomyosarcoma
Cerebral Adrenoleukodystrophy
Refractory Ewing Sarcoma
Refractory Osteosarcoma
Metastatic Bile Duct Carcinoma
Advanced Bile Duct Carcinoma
Refractory Thyroid Gland Carcinoma
Zellweger Spectrum Disorder
Refractory Glioblastoma
Metastatic Genitourinary System Carcinoma
Refractory Glioma
Steroid Refractory Graft Versus Host Disease
Platinum-Resistant Ovarian Carcinoma
Advanced Lung Non-Squamous Non-Small Cell Carcinoma
Refractory Breast Carcinoma
Refractory Colorectal Carcinoma
Refractory Melanoma
Childhood Malignant Solid Neoplasm
Recurrent Craniopharyngioma
"PROTOPORPHYRIA, ERYTHROPOIETIC, 1"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1"
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
SHWACHMAN-DIAMOND SYNDROME 1
"MENTAL RETARDATION, X-LINKED 107"
"BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 6"
"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE"
ALKURAYA-KUCINSKAS SYNDROME
IMMUNODEFICIENCY 55
NK cell deficiency
"EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES"
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
AMYOTROPHIC LATERAL SCLEROSIS 23
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 56"
"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY"
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
"NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES"
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
RETINITIS PIGMENTOSA 81
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
"SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES"
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G"
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24"
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
MULTIPLE SYNOSTOSES SYNDROME 4
"LEUKODYSTROPHY, HYPOMYELINATING, 14"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8"
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59"
"ERYTHROCYTOSIS, FAMILIAL, 5"
DIAMOND-BLACKFAN ANEMIA-LIKE
"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5"
"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES"
"MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE"
"HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME"
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
"AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25"
"EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10"
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
OROFACIODIGITAL SYNDROME XVII
OROFACIODIGITAL SYNDROME XVIII
KERATOCONUS 9
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60"
SPINOCEREBELLAR ATAXIA 47
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61"
"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62"
SHWACHMAN-DIAMOND SYNDROME 2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
"LEUKODYSTROPHY, HYPOMYELINATING, 15"
"OSTEOGENESIS IMPERFECTA, TYPE XVIII"
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
BETA-GLUCOPYRANOSIDE TASTING
SPERMATOGENIC FAILURE 24
Microcephalic sperm head
SPERMATOGENIC FAILURE 25
"LEUKODYSTROPHY, HYPOMYELINATING, 16"
SPERMATOGENIC FAILURE 27
"RH-NULL, AMORPH TYPE"
"METHEMOGLOBINEMIA, BETA TYPE"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63"
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
"ERYTHROCYTOSIS, FAMILIAL, 6"
"ERYTHROCYTOSIS, FAMILIAL, 7"
VERVERI-BRADY SYNDROME
"MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE"
"MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE"
"MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE"
JABERI-ELAHI SYNDROME
"DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3"
"EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2"
"DEAFNESS, AUTOSOMAL RECESSIVE 57"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64"
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
"LEUKODYSTROPHY, HYPOMYELINATING, 17"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65"
HYPEREKPLEXIA 4
"EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3"
"DEAFNESS, AUTOSOMAL RECESSIVE 109"
PREMATURE OVARIAN FAILURE 14
"PROTOPORPHYRIA, ERYTHROPOIETIC, 2"
"DRUG METABOLISM, ALTERED, CYP2C8-RELATED"
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
"NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC"
"EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1"
"CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS"
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS
MICROTIA WITHOUT HEARING IMPAIRMENT
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
"SHORT-RIB THORACIC DYSPLASIA 20/7 WITH POLYDACTYLY, DIGENIC (1 patient)"
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
"HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE"
Taq1A POLYMORPHISM
Trauma symptoms
Dolichocephalic
Atypical scrapie
Nor98
Metastatic Malignancy
T-cell lymphoblastic leukemia/lymphoma
ST-segment elevation myocardial infarction (STEMI)
Fuchs
Nonprogressive/congenital
Cardioembolism (high-risk/medium-risk)
Stroke of undetermined etiology
Large-artery atherosclerosis (embolus/thrombosis)
Non-ST-segment elevation myocardial infarction (NSTEMI)
Chronic wasting disease (CWD)
Thiel-behnke
Type IV atherosclerotic lesion
Increased proportion of HLA DR+ T cells
Choroidal vascular hyperpermeability
Impaired nasal mucociliary clearance
Abnormality of fundus pigmentation
Aborted sudden cardiac death
Abnormal aortic valve physiology
Atherosclerotic lesion
Severe Epstein Barr virus infection
Disseminated viral infection
Disseminated cryptosporidium infection
Abnormal ear morphology
Constant exotropia
Mild hypermetropia
Elevated apolipoprotein B level
Elevated apolipoprotein A-II level
Increased waist to hip ratio
Decreased waist to hip ratio
Aortopulmonary collateral arteries
Sleep-wake inversion
Left Isomerism
Optic ataxia
Early chronotype
Elevated hepcidin level
Increased proinsulin:insulin ratio
"Decreased level of 1,5 anhydroglucitol in serum"
Increased level of 3-hydroxy-3-methylglutaric acid in urine
Decreased level of GABA in serum
Decreased level of erythritol in urine
Decreased level of erythritol in CSF
Increased level of D-threitol in plasma
Increased level of D-threitol in CSF
Increased level of D-threitol in urine
Increased level of galactitol in plasma
Increased level of galactitol in urine
Increased level of galactonate in red blood cells
Increased level of galactitol in red blood cells
Increased level of hippuric acid in urine
Increased level of L-fucose in urine
Increased level of L-glutamic acid in blood
Increased level of propylene glycol in blood
Increased level of ribitol in urine
Increased level of ribitol in CSF
Increased level of ribose in urine
Increased level of ribose in CSF
Increased level of xylitol in urine
Increased level of xylitol in CSF
Increased level of L-pyroglutamic acid in urine
Decreased biotinidase activity
Eosinophilic infiltration of the esophagus
Increased troponin I level in blood
Conjunctival dermolipoma
Periocular capillary hemangioma
Superior rectus muscle underaction
Opium Use
Primary Neurolymphomatosis
Craniofacial Fibrous Dysplasia
"Urinary Bladder, Underactive"
Myelodysplastic Syndrome Acute Myeloid Leukemia
"Polyarthritis, Juvenile, Rheumatoid Factor Positive"
"Mammary Carcinoma, Human"
Genital Vulvovaginal Candidiasis
Fibrocystic Dysplasia of Bone
Fibrocartilaginous Dysplasia of Bone
Maternal Sepsis
Infant Overweight
Adolescent Overweight
2q33.1 microdeletion syndrome
Sickle cell hepatopathy
Acute necrotizing encephalopathy of childhood
Congenital myopathy with myasthenic-like onset
X-linked Charcot-Marie-Tooth disease type 6
Autosomal recessive cerebellar ataxia with late-onset spasticity
Progressive myoclonic epilepsy with dystonia
Spectrin-associated autosomal recessive cerebellar ataxia
Familial progressive hyper and hypopigmentation
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 5
Distal monosomy 13q syndrome
Distal monosomy 3p syndrome
Hyperphalangy
Severe combined immunodeficiency due to CTPS1 deficiency
Startle epilepsy
Idiopathic CD4 lymphocytopenia
Familial hyperprolactinemia
Familial vesicoureteral reflux
"Hypotonia, speech impairment, severe cognitive delay syndrome"
Invasive non-typhoidal salmonellosis
KLHL9-related early-onset distal myopathy
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
"Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome"
SHOX-related short stature
Male infertility with teratozoospermia due to single gene mutation
Aneurysm of left subclavian artery
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Familial isolated trichomegaly
Mosaic trisomy 2 syndrome
Tetrasomy 21
Distal 17p13.3 microdeletion syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Acute myeloid leukemia with CEBPA somatic mutations
Acquired cystic disease associated renal cell carcinoma
"Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome"
Inherited acute myeloid leukemia
Striate palmoplantar keratoderma
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Familial thoracic aortic aneurysm and aortic dissection
Biallelic RPE65 mutation associated retinal dystrophy
Non-herpetic acute limbic encephalitis
BAP1 tumor predisposition syndrome
Spinocerebellar ataxia with axonal neuropathy type 1
HIVEP2-related intellectual disability
Ring chromosome 2 syndrome
Ring chromosome 3 syndrome
Ring chromosome 5 syndrome
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Bilateral polymicrogyria
Molluscum contagiosum skin infection
Acute encephalopathy with biphasic seizures and late reduced diffusion
Juvenile overlap myositis
Idiopathic recurrent pericarditis
Inflammatory myopathy with abundant macrophages
Isochromosomy Yp
Isolated focal cortical dysplasia
X-linked cleft palate and ankyloglossia
1p31p32 microdeletion syndrome
Autosomal recessive spastic paraplegia type 67
X-linked non progressive cerebellar ataxia
Diencephalic mesencephalic junction dysplasia
Familial lambdoid synostosis
Genetic hyperferritinemia without iron overload
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
Low density lipoprotein receptor adaptor protein 1 mutation
Autosomal recessive congenital methemoglobinemia type I
PURA syndrome
MDA5 deficiency
Trisomy 1q syndrome
Coloboma of choroid and retina
Acroangiodermatitis of skin
Metastatic non-small cell carcinoma
Metastatic gastroesophageal adenocarcinoma
Metastatic castration-resistant prostate cancer
Metastatic human epidermal growth factor 2 positive carcinoma of breast
Abnormal esophagus morphology
Osteolysis
Malignant Pancreatic Insulinoma
Juvenile angiofibroma
Mantle cell lymphoma
Breast cancer stage III
"THYROID CANCER, NONMEDULLARY, 1"
Stage IV Hypopharyngeal Squamous Cell Carcinoma AJCC v7
"NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE"
"Charcot-Marie-Tooth disease, Type 4E"
Mitral valve dysplasia
Burkitt Leukemia
Intestinal T-Cell Lymphoma
Peripheral Nervous System Diseases
Peripheral dysostosis
"Sarcoma, Myeloid"
"Alveolitis, Fibrosing"
Hamman-Rich Disease
Usual Interstitial Pneumonia
Congenital hypotrichia
"HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT"
"Lymphoma, Non-Hodgkin, Familial"
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autoimmune hepatitis
Theca cell tumor of ovary
stage IV hypopharyngeal cancer
stage IV esophageal cancer
Secondary malignant neoplasm of colon and/or rectum
"Carcinoma, Ovarian Epithelial"
Stage I Esophageal Squamous Cell Carcinoma AJCC v7
Stage II Esophageal Squamous Cell Carcinoma AJCC v7
Stage IV Lung Squamous Cell Carcinoma AJCC v7
Bladder cancer stage IV
Metastatic Renal Cell Carcinoma
Unspecified secondary cataract
Citrullinemia Type 1
Nasopharyngeal cancer stage IV
Postoperative delirium
Postoperative cognitive dysfunction
Ovarian cancer stage IV
Stage IV Ovarian Cancer AJCC v6 and v7
Bifid ribs
"Carcinoma, Basal Cell"
refractory chronic myelocytic leukemia
Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 2
"Marfan Syndrome, Type I"
Hereditary Diffuse Gastric Adenocarcinoma
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1"
"MYOPATHY, MYOFIBRILLAR, 4"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A"
SPERMATOGENIC FAILURE 3
"CATARACT 2, MULTIPLE TYPES"
"HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT"
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
HMSN Type V
Fibrothecoma
malignant neoplasm of large intestine stage IIa
malignant neoplasm of large intestine stage IIIb
Familial Idiopathic Pulmonary Fibrosis
Kynurenine Measurement
Grade 3 Teratoma
Malignant neoplasm of colon and/or rectum
High grade glioma
"MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding)"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding)"
Primary differentiated carcinoma of thyroid gland
E-selectin Measurement
Vascular Endothelial Growth Factor Receptor 2 Measurement
Hypoprothrombinemias
"EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV"
Anaplastic Sarcoma of the Kidney
"NEUROPATHY, CONGENITAL HYPOMYELINATING, 2"
"HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE"
Metastatic Neuroblastoma
"PROSTATE CANCER, HEREDITARY, 1"
Hereditary Prostate Carcinoma
Generalized Thyroid Hormone Resistance
Extrapulmonary Small Cell Carcinoma
"ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION"
PLCG2-associated antibody deficiency and immune dysregulation
Thyroid Stimulating Hormone Resistance
Triple-Negative Breast Carcinoma
Blood Vessel Tumors
"EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1"
Brain Ependymoma
Metastatic Breast Carcinoma
stage IV thymoma
stage IA breast cancer
Malignant Ovarian Teratoma
stage I thymoma
stage IB non-small cell lung cancer
stage II thymoma
Metastatic Soft Tissue Sarcoma
Obstructive apnea
Refractory Head and Neck Squamous Cell Carcinoma
Refractory Synovial Sarcoma
Refractory Sarcoma
Recurrent Sarcoma
HyperCKmia
Moderate Hepatic Insufficiency
Refractory Leukemia
Recurrent Acute Leukemia
Refractory Acute Leukemia
Unresectable Intrahepatic Cholangiocarcinoma
Refractory Nasopharyngeal Carcinoma
Advanced Urothelial Carcinoma
metastatic intraocular melanoma
Advanced Uveal Melanoma
Unresectable Melanoma
Castration-Naive Prostate Carcinoma
Advanced Squamous Cell Carcinoma of the Oropharynx
High-Risk Neuroblastoma
Refractory Bladder Carcinoma
Refractory Urothelial Carcinoma
Platinum-Resistant Urothelial Carcinoma
Extracavitary Primary Effusion Lymphoma
Metastatic Bladder Urothelial Carcinoma
Unresectable Urothelial Carcinoma
Recurrent Dedifferentiated Liposarcoma
Metastatic Malignant Neoplasm in the Viscera
Resectable Dedifferentiated Liposarcoma
Resectable Neuroblastoma
Unresectable Neuroblastoma
Mutation-Negative Lynch Syndrome
Metastatic Gastrointestinal Stromal Tumor
Extracranial Solid Neoplasm
Transformed Non-Hodgkin Lymphoma
Resectable Pancreatic Ductal Adenocarcinoma
Chronic Hemolysis
Unresectable Soft Tissue Sarcoma
Metastatic Pancreatic Neuroendocrine Carcinoma
Advanced Renal Cell Carcinoma
Advanced Carcinoma
Advanced Lymphoma
locally advanced squamous cell carcinoma of the skin
Advanced Synovial Sarcoma
Advanced Sarcoma
Metastatic Lung Carcinoma
Advanced Lung Carcinoma
Recurrent Hemophagocytic Lymphohistiocytosis
Metastatic Gastric Carcinoma
Castration-Sensitive Prostate Carcinoma
Recurrent Cushing Disease
"Metastatic Cervical Squamous Cell Carcinoma, Not Otherwise Specified"
Recurrent Salivary Duct Carcinoma
Recurrent Ovarian Serous Adenocarcinoma
Metastatic Fibrolamellar Carcinoma
Locally Advanced Squamous Cell Carcinoma
MGMT-Methylated Glioblastoma
Crooke Cell Adenoma
Advanced Oral Cavity Squamous Cell Carcinoma
Metastatic Oral Cavity Squamous Cell Carcinoma
Advanced Hypopharyngeal Squamous Cell Carcinoma
Advanced Laryngeal Squamous Cell Carcinoma
Refractory Lung Non-Small Cell Carcinoma
Telomere Syndrome
Advanced Melanoma
Epilepsy with myoclonic-atonic seizures
Gatad2b associated neurodevelopmental disorder
H3N2 influenza
Myocardial infarction with nonobstructive coronary arteries
Hypophosphataemic osteomalacia
Hospital acquired bacterial pneumonia
Eosinophilic otitis media
Ewing-like sarcoma
Muscle tension dysphonia
Acute on chronic hepatitis B
CTLA4 deficiency
Diabetic wound
Left anterior descending coronary artery occlusion
Severe hypoglycaemia
Rebound hyperacidity
Infantile fibromatosis
Mid-dermal elastolysis
Steroid diabetes
PIK3CA related overgrowth spectrum
Non-proliferative retinopathy
Extramedullary myeloma
Capnocytophaga canimorsus sepsis
Chronic gastroduodenitis
Blood spots
Acral ulceration
Decreased hemoglobin concentration
Tachylalia
"Elevated N,N-dimethylglycine level"
"Elevated urinary N,N-dimethylglycine level"
Spastic paraparetic gait
Leg dystonia
Abnormal putamen morphology
Polyminimyoclonus
Apical hypertrophic cardiomyopathy
Infantile constant exotropia
Retinal dots
Leptomeningeal enhancement
Hypoplasia of mandible relative to maxilla
estrogen receptor-negative breast cancer
progesterone receptor-negative breast cancer
progesterone receptor-positive breast cancer
HER2-negative breast cancer
hereditary breast/ovarian cancer - BRCA1
familial chordoma
ulcerative colitis-associated low-grade dysplasia
stage IIIB melanoma
stage IIIC melanoma
ovarian papillary serous carcinoma
familial acute myeloid leukemia
familial chronic lymphocytic leukemia
mosaic variegated aneuploidy
familial multiple myeloma
familial non-medullary thyroid cancer
hereditary gastrointestinal stromal tumor
distal bile duct cancer
stage IVC anaplastic thyroid cancer
recurrent medullary thyroid cancer
recurrent papillary thyroid cancer
newly diagnosed non-small cell lung cancer
progressive non-small cell lung cancer
adult chronic myelogenous leukemia
Opioid Overdose
Apnea+hypopnea
Non-Functioning Corticotroph Adenoma
Unresectable Malignant Mesothelioma
Unresectable Renal Cell Carcinoma
Resectable Renal Cell Carcinoma
Leukocyte Adhesion Deficiency Type 3
Pituitary Gland Blastoma
Advanced Cutaneous Melanoma of the Extremity
Sarcoma of the Extremity
Sellar Meningioma
Chest Wall Sarcoma
Recurrent Desmoid-Type Fibromatosis
Metastatic Lung Adenocarcinoma
Cerebral Hemangioblastoma
Recurrent Chordoma
Temporal Lobe Pleomorphic Xanthoastrocytoma
Metastatic Esophageal Carcinoma
Metastatic Lung Non-Small Cell Carcinoma
Metastatic Colorectal Carcinoma
Metastatic Colon Carcinoma
"Thyroid Gland Follicular Carcinoma, Encapsulated Angioinvasive"
"Thyroid Gland Follicular Carcinoma, Widely Invasive"
Locally Advanced Pancreatic Adenocarcinoma
Advanced Prostate Carcinoma
Advanced Prostate Adenocarcinoma
High Risk Acute Myeloid Leukemia
Advanced Cervical Carcinoma
Locally Advanced Cervical Carcinoma
Refractory Kaposi Sarcoma
Advanced Gastric Neuroendocrine Carcinoma
Biliary Tract Carcinoma
Recurrent Biliary Tract Carcinoma
Resectable Intrahepatic Cholangiocarcinoma
Hormone Receptor Positive Breast Carcinoma
Locally Advanced Pancreatic Ductal Adenocarcinoma
"ALPORT SYNDROME 3, AUTOSOMAL DOMINANT"
"ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO"
"ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE"
ORTHOSTATIC HYPOTENSION 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
"OSTEOGENESIS IMPERFECTA, TYPE XIX"
"HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED"
"DEAFNESS, X-LINKED 7"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30"
"ALPORT SYNDROME 1, X-LINKED"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1"
Hypercholanemia
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20"
"PARKINSONISM-DYSTONIA, INFANTILE, 1"
LYMPHATIC MALFORMATION 3
"SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC"
"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT"
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
IMMUNODEFICIENCY 15B
LYMPHATIC MALFORMATION 4
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
"HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES"
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
TETRAAMELIA SYNDROME 2
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
COFFIN-SIRIS SYNDROME 7
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD"
PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
"PARKINSONISM-DYSTONIA, INFANTILE, 2"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 57"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27"
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
"DRUG METABOLISM, ALTERED, CES1-RELATED"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
"CILIARY DYSKINESIA, PRIMARY, 38"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 1D"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66"
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
INFLAMMATORY BOWEL DISEASE 29
OVARIAN DYSGENESIS 6
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
PEELING SKIN SYNDROME 6
SPERMATOGENIC FAILURE 28
"SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS"
"NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
"INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES"
SPINOCEREBELLAR ATAXIA 48
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63"
PREMATURE OVARIAN FAILURE 15
"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 58"
"OSTEOPETROSIS, AUTOSOMAL DOMINANT 3"
IMMUNODEFICIENCY 57
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65"
SPERMATOGENIC FAILURE 31
LIDDLE SYNDROME 2
SPERMATOGENIC FAILURE 32
BONE MARROW FAILURE SYNDROME 4
OVARIAN DYSGENESIS 7
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5"
"POLYDACTYLY, POSTAXIAL, TYPE A8"
"PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT"
LIDDLE SYNDROME 3
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4"
IMMUNODEFICIENCY 58
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23"
"DEAFNESS, AUTOSOMAL DOMINANT 74"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67"
"MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME"
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
"USHER SYNDROME, TYPE IV"
"DEAFNESS, AUTOSOMAL RECESSIVE 111"
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
SPERMATOGENIC FAILURE 33
SPERMATOGENIC FAILURE 34
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
"OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES"
SQUALENE SYNTHASE DEFICIENCY
"INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V"
JOUBERT SYNDROME 35
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE"
"CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY"
BONE MARROW FAILURE SYNDROME 5
DIARRHEA 9
"NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES"
RETINITIS PIGMENTOSA 83
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9"
"NEPHROTIC SYNDROME, TYPE 17"
"NEPHROTIC SYNDROME, TYPE 18"
"NEPHROTIC SYNDROME, TYPE 19"
"MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE"
"ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS"
ORTHOSTATIC HYPOTENSION 2
"DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE"
PERIVENTRICULAR NODULAR HETEROTOPIA 8
"NEUROPATHY, CONGENITAL HYPOMYELINATING, 3"
OVARIAN DYSGENESIS 8
"CARDIOMYOPATHY, DILATED, 2C"
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
"MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC"
"MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68"
IMMUNODEFICIENCY 15A
SNIJDERS BLOK-CAMPEAU SYNDROME
"INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY"
BAKER-GORDON SYNDROME
RETINITIS PIGMENTOSA 84
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2"
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32"
"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33"
"CILIARY DYSKINESIA, PRIMARY, 39"
LYMPHOPROLIFERATIVE SYNDROME 3
MIRROR MOVEMENTS 4
"ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 12"
"EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3"
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
"GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR"
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
HYPOTRICHOSIS 14
"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY"
"FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G"
CARDIAC-UROGENITAL SYNDROME
Hepatopulmonary fusion
"HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE"
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
"MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69"
"MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT"
"MUCOCUTANEOUS ULCERATION, CHRONIC"
"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT"
"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA"
"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70"
"CILIARY DYSKINESIA, PRIMARY, 40"
"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68"
"EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4"
"MASTOCYTOSIS, SYSTEMIC, SOMATIC"
"MACRODACTYLY, SOMATIC"
"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC"
"BOMBAY PHENOTYPE, DIGENIC"
"ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS"
CPT1A ARCTIC VARIANT
"MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC"
"MASTOCYTOSIS, INDOLENT"
"NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT"
Aleukemic mast cell leukemia
Benign familial mesial temporal lobe epilepsy
Chuvash erythrocytosis
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Familial bicuspid aortic valve
Maternal uniparental disomy of chromosome 1
Monosomy 13q14 syndrome
Refractory celiac disease
Rippling muscle disease with myasthenia gravis
Diffuse leptomeningeal melanocytosis
Genetic transient congenital hypothyroidism
Mesial temporal lobe epilepsy with hippocampal sclerosis
Paternal uniparental disomy of chromosome 6
Autosomal recessive spastic paraplegia type 70
Spinal muscular atrophy with respiratory distress type 2
2p21 microdeletion syndrome without cystinuria
New-onset refractory status epilepticus
Benign Samaritan congenital myopathy
Adult-onset distal myopathy due to valosin containing protein mutation
5p13 microduplication syndrome
"Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency"
Distal monosomy 12p
Hereditary site-specific ovarian cancer syndrome
Distal hereditary motor neuropathy type 7
Autosomal recessive lower motor neuron disease with childhood onset
Charcot-Marie-Tooth disease type 2B5
Ectodermal dysplasia syndactyly syndrome
14q11.2 microduplication syndrome
"Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome"
Methylmalonic aciduria due to transcobalamin receptor defect
Developmental and speech delay due to SOX5 deficiency
15q overgrowth syndrome
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Autism spectrum disorder due to AUTS2 deficiency
Spinal muscular atrophy with lower extremity predominance
Left cervical sympathetic dystrophy
Cyclin-dependent kinase-like 5 deficiency
7q31 microdeletion syndrome
Autosomal systemic lupus erythematosus
Contiguous ABCD1 DXS1357E deletion syndrome
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
East Texas bleeding disorder
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Autosomal recessive spastic paraplegia type 59
LMNA-related cardiocutaneous progeria syndrome
Ocular albinism with congenital sensorineural deafness
"Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome"
Onychomatricoma
Neonatal inflammatory skin and bowel disease
Late-onset focal dermal elastosis
Pitt Hopkins-like syndrome
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Rare isolated myopia
High-grade neuroendocrine carcinoma of cervix uteri
Late-onset isolated adrenocorticotropic hormone deficiency
Isolated asymptomatic elevation of creatine phosphokinase
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Polyglucosan body myopathy type 1
Ferro-cerebro-cutaneous syndrome
Periodic paralysis with transient compartment-like syndrome
Periodic paralysis with later-onset distal motor neuropathy
Fatal post-viral neurodegenerative disorder
"Congenital neutropenia, myelofibrosis, nephromegaly syndrome"
Autosomal recessive cerebral atrophy
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
12p12.1 microdeletion syndrome
Severe intellectual disability and progressive spastic paraplegia
Syndromic multisystem autoimmune disease due to ITCH deficiency
Atypical hypotonia cystinuria syndrome
Primary CD59 deficiency
FASTKD2-related infantile mitochondrial encephalomyopathy
Susceptibility to viral and mycobacterial infection
Somatomammotropinoma
MT-ATP6-related mitochondrial spastic paraplegia
Idiopathic eosinophilic myositis
Focal palmoplantar keratoderma with joint keratoses
Familial cervical artery dissection
Diffuse palmoplantar keratoderma with painful fissures
Cryptogenic late-onset epileptic spasms
Autosomal recessive cutis laxa type 2B
Isolated ATP synthase deficiency
Desmoplastic infantile astrocytoma and ganglioglioma
Non-metastatic prostate cancer
PF-ILD-progressive fibrosing interstitial lung disease