Diseases

Name Orphanumber Description XREF(s)
X-linked Charcot-Marie-Tooth disease type 1 101075 X-linked Charcot-Marie-Tooth disease… Orphanet, OMIM, MeSH, ICD-10
X-linked cleft palate and ankyloglossia 324601 X-linked cleft palate and ankyloglossia… Orphanet, OMIM, ICD-10
X-linked complicated corpus callosum dysgenesis 1497 A congenital, X-linked, clinical… Orphanet, OMIM, ICD-10
X-linked complicated spastic paraplegia type 1 306617 A congenital, X-linked, clinical… Orphanet
X-linked cone dysfunction syndrome with myopia 90001 X-linked cone dysfunction syndrome with… Orphanet, ICD-10, OMIM
X-linked congenital generalized hypertrichosis 79495 X-linked congenital generalized… Orphanet, MeSH, ICD-10, OMIM
X-linked creatine transporter deficiency 52503 X-linked creatine transporter… Orphanet, ICD-10, OMIM
X-linked diffuse leiomyomatosis-Alport syndrome 1018 The association of X-linked Alport…
X-linked distal spinal muscular atrophy type 3 139557 X-linked distal spinal muscular atrophy… Orphanet, OMIM, ICD-10
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 163966 X-linked dominant chondrodysplasia… Orphanet, OMIM, ICD-10
X-linked dominant chondrodysplasia punctata 35173 A rare genodermatosis disease with… Orphanet, ICD-10, OMIM
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia 363727 X-linked dyserythropoietic anemia with… Orphanet, OMIM, ICD-10
X-linked dystonia-parkinsonism 53351 X-linked dystonia-parkinsonism (XDP) is… Orphanet, OMIM, ICD-10
X-linked Ehlers-Danlos syndrome 75497 A rare systemic disease characterized… Orphanet, ICD-10, OMIM, MeSH
X-linked Emery-Dreifuss muscular dystrophy 98863 Orphanet, ICD-10, OMIM, OMIM
X-linked epilepsy-learning disabilities-behavior disorders syndrome 85294 X-linked epilepsy-learning disabilities… Orphanet, OMIM, ICD-10
X-linked erythropoietic protoporphyria 443197 A rare disorder of porphyrin and heme… Orphanet, OMIM, ICD-10
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 500188 A rare syndromic genetic deafness… Orphanet, OMIM, ICD-10
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 480880 A rare genetic multiple congenital… Orphanet, OMIM, ICD-10
X-linked hereditary sensory and autonomic neuropathy with deafness 139583 A rare peripheral neuropathy… Orphanet, OMIM, ICD-10
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