Total: 11708 diseases

• 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
• 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
• FG syndrome 4
• Gaze palsy, familial horizontal, with progressive scoliosis
• Glycogen storage disease type X
• Hand foot uterus syndrome
• Hemophagocytic lymphohistiocytosis, familial, 4
• Hereditary myopathy with early respiratory failure