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List of Diseases

A list of diseases, sorted alphabetically.

Cole disease
Collagen VI-related dystrophy
Coloboma
Color vision deficiency
Combined malonic and methylmalonic aciduria
Combined oxidative phosphorylation deficiency 1
Combined pituitary hormone deficiency
Common variable immune deficiency
Complement component 2 deficiency
Complement component 8 deficiency
Complete LCAT deficiency
Complete plasminogen activator inhibitor 1 deficiency
Cone-rod dystrophy
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital afibrinogenemia
Congenital anomalies of kidney and urinary tract
Congenital bilateral absence of the vas deferens
Congenital central hypoventilation syndrome
Congenital contractural arachnodactyly
Congenital diaphragmatic hernia
Congenital dyserythropoietic anemia
Congenital fiber-type disproportion
Congenital fibrosis of the extraocular muscles
Congenital generalized lipodystrophy
Congenital hypothyroidism
Congenital insensitivity to pain with anhidrosis
Congenital leptin deficiency
Congenital mirror movement disorder
Congenital myasthenic syndrome
Congenital nephrotic syndrome
Congenital plasminogen deficiency
Congenital sucrase-isomaltase deficiency
Constitutional mismatch repair deficiency syndrome
Cornelia de Lange syndrome
Corticosteroid-binding globulin deficiency
Corticosterone methyloxidase deficiency
Costeff syndrome
Costello syndrome
Cowden syndrome
Cranioectodermal dysplasia
Craniofacial microsomia
Craniofacial-deafness-hand syndrome
Craniometaphyseal dysplasia
Crigler-Najjar syndrome
Crohn's disease
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
Cryptogenic cirrhosis
Cushing disease
Cutis laxa
Cystic fibrosis
Cystinosis
Cystinuria
Cytochrome P450 oxidoreductase deficiency
Cytochrome c oxidase deficiency
Czech dysplasia
D-bifunctional protein deficiency
DICER1 syndrome
DNMT3A overgrowth syndrome
DOCK8 immunodeficiency syndrome
DOORS syndrome
Dandy-Walker malformation
Darier disease
Deafness and myopia syndrome
Dementia with Lewy bodies
Dentatorubral-pallidoluysian atrophy
Dentinogenesis imperfecta
Denys-Drash syndrome
Deoxyguanosine kinase deficiency
Depression
Desmosterolosis
Developmental and epileptic encephalopathy 1
Diamond-Blackfan anemia
Diastrophic dysplasia
Dihydrolipoamide dehydrogenase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy with ataxia syndrome
Distal arthrogryposis type 1
Distal hereditary motor neuropathy, type V
Donnai-Barrow syndrome
Donohue syndrome
Dopa-responsive dystonia
Dopamine beta-hydroxylase deficiency
Dopamine transporter deficiency syndrome
Dowling-Degos disease
Down syndrome
Duane-radial ray syndrome
Dubin-Johnson syndrome
Dyskeratosis congenita
Dystonia 16
Dystonia 6
Dystrophic epidermolysis bullosa
Early-onset glaucoma
Early-onset myopathy with fatal cardiomyopathy
Ehlers-Danlos syndrome
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Encephalocraniocutaneous lipomatosis
Enlarged parietal foramina

Epidermal nevus
Epidermolysis bullosa simplex
Epidermolysis bullosa with pyloric atresia
Epidermolytic hyperkeratosis
Episodic ataxia
Erythrokeratodermia variabilis et progressiva
Erythromelalgia
Essential thrombocythemia
Essential tremor
Ethylmalonic encephalopathy
Ewing sarcoma
FOXP2-related speech and language disorder
Facioscapulohumeral muscular dystrophy
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XIII deficiency
Familial HDL deficiency
Familial Mediterranean fever
Familial adenomatous polyposis
Familial atrial fibrillation
Familial candidiasis
Familial dilated cardiomyopathy
Familial dysautonomia
Familial encephalopathy with neuroserpin inclusion bodies
Familial erythrocytosis
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial glucocorticoid deficiency
Familial hemiplegic migraine
Familial hemophagocytic lymphohistiocytosis
Familial hyperaldosteronism
Familial hypercholesterolemia
Familial hypertrophic cardiomyopathy
Familial hypobetalipoproteinemia
Familial isolated hyperparathyroidism
Familial male-limited precocious puberty
Familial osteochondritis dissecans
Familial paroxysmal kinesigenic dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia
Familial partial lipodystrophy
Familial restrictive cardiomyopathy
Familial thoracic aortic aneurysm and dissection
Fanconi anemia
Farber lipogranulomatosis
Fatty acid hydroxylase-associated neurodegeneration
Feingold syndrome
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibronectin glomerulopathy
Fish-eye disease
Floating-Harbor syndrome
Fragile X-associated primary ovarian insufficiency
Fraser syndrome
Frasier syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Frontonasal dysplasia
Fucosidosis
Fukuyama congenital muscular dystrophy
Fumarase deficiency
Fundus albipunctatus
GABA-transaminase deficiency
GLUT1 deficiency syndrome
GM1 gangliosidosis
GM3 synthase deficiency
GRACILE syndrome
GRIN2B-related neurodevelopmental disorder
GRN-related frontotemporal lobar degeneration
Galactosemia
Galactosialidosis
Gastrointestinal stromal tumor
Gaucher disease
Geleophysic dysplasia
Generalized arterial calcification of infancy
Generalized pustular psoriasis
Genetic epilepsy with febrile seizures plus
Genitopatellar syndrome
Gestational diabetes
Ghosal hematodiaphyseal dysplasia
Giant axonal neuropathy
Gilbert syndrome
Gillespie syndrome
Gitelman syndrome
Glanzmann thrombasthenia
Globozoospermia
Glucose phosphate isomerase deficiency
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutaric acidemia type I
Glutaric acidemia type II
Glutathione synthetase deficiency
Glycogen storage disease type 0
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type IX
Glycogen storage disease type V
Gnathodiaphyseal dysplasia

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