Diseases

Name Orphanumber Description XREF(s)
X-linked scapuloperoneal muscular dystrophy 431272 A rare, genetic, muscular dystrophy… Orphanet, OMIM, ICD-10
X-linked retinoschisis 792 A rare disorder involving multiple… Orphanet, ICD-10, OMIM
X-linked reticulate pigmentary disorder 85453 X-linked reticulate pigmentary disorder… Orphanet, OMIM, ICD-10, ICD-10
X-linked recessive ocular albinism 54 X-linked recessive ocular albinism (… Orphanet, MeSH, OMIM, ICD-10
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome 83648 An X-linked syndromic intellectual… http://www.orpha.net/consor/cgi-bin/OC_…
X-linked progressive cerebellar ataxia 1175 A rare X-linked cerebellar ataxia,… Orphanet, OMIM, ICD-10, OMIM
X-linked parkinsonism-spasticity syndrome 363654 A rare, genetic, neurological disorder… Orphanet, ICD-10, OMIM
X-linked osteoporosis with fractures 391330 A rare, genetic, primary bone dysplasia… Orphanet, ICD-10, OMIM
X-linked Opitz G/BBB syndrome 306597 Orphanet, ICD-10, OMIM
X-linked non-syndromic intellectual disability 777 Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10, ICD-10, ICD-10, ICD-10, OMIM, OMIM, OMIM
X-linked non progressive cerebellar ataxia 314978 X-linked non progressive cerebellar… Orphanet, OMIM, ICD-10, OMIM
X-linked myotubular myopathy-abnormal genitalia syndrome 456328 X-linked myotubular myopathy-abnormal… Orphanet, ICD-10, OMIM
X-linked myopathy with postural muscle atrophy 178461 X-linked myopathy with postural muscle… Orphanet, OMIM, ICD-10
X-linked myopathy with excessive autophagy 25980 X-linked myopathy with excessive… Orphanet, ICD-10, OMIM
X-linked mixed deafness with perilymphatic gusher 383 X-linked mixed deafness with… Orphanet, ICD-10, OMIM
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 435938 X-linked microcephaly-growth… Orphanet, OMIM, ICD-10
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 319623 Orphanet, OMIM, ICD-10
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 319612 Orphanet, OMIM, ICD-10
X-linked lymphoproliferative disease due to XIAP deficiency 538934 A rare, genetic, primary… Orphanet, ICD-10, OMIM
X-linked lymphoproliferative disease due to SH2D1A deficiency 538931 A rare, genetic, primary… Orphanet, ICD-10, OMIM
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