Total: 12287 diseases
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- C syndrome
- Candidiasis, familial, 2
- Dilated cardiomyopathy 1E
- Familial hypertrophic cardiomyopathy 6
- Carpenter syndrome 1
- Cataract 40
- Celiac disease 4
- Cerebellar hypoplasia with endosteal sclerosis
- Adult neuronal ceroid lipofuscinosis
- Charcot-Marie-Tooth disease and deafness
- Charcot-Marie-Tooth disease, type IA
- Charcot-Marie-Tooth disease, type 4J
- 22q11.2 duplication syndrome
- Kartagener syndrome
- Talipes equinovarus
- Combined oxidative phosphorylation deficiency 3
- Combined saposin deficiency
- Cone-rod dystrophy 12
- Congenital disorder of glycosylation type 1H
- Corneal dystrophy, posterior polymorphous, 2
- Congenital muscular hypertrophy-cerebral syndrome
- Corpus callosum agenesis
- Cousin syndrome
- Cryptophthalmos, unilateral or bilateral, isolated
- Deafness, autosomal dominant 1
- Deafness, autosomal dominant 3b
- Deafness, autosomal dominant 9
- Deafness, autosomal recessive 36, with or without vestibular involvement
- Deafness, autosomal recessive 6
- Deafness, autosomal recessive 67
- Deafness and myopia
- Deafness, X-linked 2
- Diabetes mellitus type 2
- Juvenile-onset dystonia
- Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- EPIDERMODYSPLASIA VERRUCIFORMIS
- Epidermolysis bullosa, lethal acantholytic
- Early infantile epileptic encephalopathy 9
- Lowry Wood syndrome
- Erythrokeratodermia variabilis
- Tyrosine kinase 2 deficiency
- Ullrich congenital muscular dystrophy 1
- Uniparental disomy, paternal, chromosome 14
- Van der Woude syndrome 2
- Vohwinkel syndrome, variant form
- Weill-Marchesani syndrome 2
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Xeroderma pigmentosum, variant type
- Febrile seizures, familial, 4
- Fetal hemoglobin quantitative trait locus 5