Total: 11948 diseases

• Chronic granulomatous disease
• Lhermitte-Duclos disease
• Paroxysmal nocturnal hemoglobinuria 1
• Retinitis pigmentosa 4
• Keratoconus
• Roberts-SC phocomelia syndrome
• Apparent mineralocorticoid excess
• Neurohypophyseal diabetes insipidus
• Refractory anemia with ringed sideroblasts (clinical)
• FRAXE
• Citrin deficiency
• Hereditary palmoplantar keratoderma
• Alzheimer disease, type 1
• Agammaglobulinemia 3, autosomal recessive
• 46,XY sex reversal, type 3
• Amelogenesis imperfecta, hypomaturation type, IIA3
• Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
• Congenital disorder of glycosylation type 2J
• Witteveen-kolk syndrome
• Chromosome 17p13.3, centromeric, duplication syndrome
• Dursun syndrome
• Dilated cardiomyopathy 1R
• Frontonasal dysplasia 3
• Corneal dystrophy, Fuchs endothelial, 6
• Hemophagocytic lymphohistiocytosis, familial, 5
• Deafness, autosomal recessive 79
• Focal segmental glomerulosclerosis 5
• Diarrhea 5, with tufting enteropathy, congenital
• Parkinson disease 14
• Early infantile epileptic encephalopathy 5
• Glioma susceptibility 2
• Osteomyelitis, sterile multifocal, with periostitis and pustulosis
• Long QT syndrome 12
• Lymphedema, hereditary, IC
• Mental retardation, X-linked, syndromic, Raymond type
• Microphthalmia, isolated 6
• Neuroblastoma 2
• Microphthalmia, isolated 4
• Pituitary hormone deficiency, combined 1
• Palmoplantar keratoderma, nonepidermolytic, focal
• Myofibrillar myopathy, BAG3-related
• Porphobilinogen synthase deficiency
• SeSAME syndrome
• Weill-Marchesani-like syndrome
• Atrial septal defect 5
• Bronchiectasis with or without elevated sweat chloride 2
• Cone-rod dystrophy 9
• Exudative vitreoretinopathy 5
• Glioma susceptibility 3
• Glycogen storage disease type 13