Diseases

Name Orphanumber Description XREF(s)
X-linked myotubular myopathy-abnormal genitalia syndrome 456328 X-linked myotubular myopathy-abnormal… Orphanet, ICD-10, OMIM
X-linked non progressive cerebellar ataxia 314978 X-linked non progressive cerebellar… Orphanet, OMIM, 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 Opitz G/BBB syndrome 306597 Orphanet, ICD-10, OMIM
X-linked osteoporosis with fractures 391330 A rare, genetic, primary bone dysplasia… Orphanet, ICD-10, OMIM
X-linked parkinsonism-spasticity syndrome 363654 A rare, genetic, neurological disorder… Orphanet, ICD-10, OMIM
X-linked progressive cerebellar ataxia 1175 A rare X-linked cerebellar ataxia,… Orphanet, OMIM, ICD-10, OMIM
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 recessive ocular albinism 54 X-linked recessive ocular albinism (… Orphanet, MeSH, OMIM, ICD-10
X-linked reticulate pigmentary disorder 85453 X-linked reticulate pigmentary disorder… Orphanet, OMIM, ICD-10, ICD-10
X-linked retinoschisis 792 A rare disorder involving multiple… Orphanet, ICD-10, OMIM
X-linked scapuloperoneal muscular dystrophy 431272 A rare, genetic, muscular dystrophy… Orphanet, OMIM, ICD-10
X-linked severe congenital neutropenia 86788 X-linked severe congenital neutropenia… Orphanet, OMIM, ICD-10
X-linked severe syndromic thoracic aortic aneurysm and dissection 622925 Orphanet
X-linked sideroblastic anemia 75563 X-linked sideroblastic anemia is a… Orphanet, MeSH, ICD-10, OMIM
X-linked sideroblastic anemia and spinocerebellar ataxia 2802 A rare syndromic, inherited form of… Orphanet, OMIM, ICD-10
X-linked spastic paraplegia type 34 171607 X-linked spastic paraplegia type 34 is… Orphanet, OMIM, ICD-10
X-linked spastic paraplegia type 16 100997 A complex, hereditary, spastic… Orphanet, OMIM, MeSH, ICD-10
X-linked spasticity-intellectual disability-epilepsy syndrome 3175 A rare ARX-related epileptic… Orphanet, OMIM, ICD-10
X-linked spondyloepimetaphyseal dysplasia 93349 A rare, genetic primary bone dysplasia… Orphanet, ICD-10, OMIM
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