Diseases

Name Orphanumber Description XREF(s)
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia 363727 X-linked dyserythropoietic anemia with… Orphanet, OMIM, ICD-10
X-linked dominant chondrodysplasia punctata 35173 A rare genodermatosis disease with… Orphanet, ICD-10, OMIM
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 163966 X-linked dominant chondrodysplasia… Orphanet, OMIM, ICD-10
X-linked distal spinal muscular atrophy type 3 139557 X-linked distal spinal muscular atrophy… Orphanet, OMIM, ICD-10
X-linked diffuse leiomyomatosis-Alport syndrome 1018 The association of X-linked Alport…
X-linked creatine transporter deficiency 52503 X-linked creatine transporter… Orphanet, ICD-10, OMIM
X-linked congenital generalized hypertrichosis 79495 X-linked congenital generalized… Orphanet, MeSH, ICD-10, OMIM
X-linked cone dysfunction syndrome with myopia 90001 X-linked cone dysfunction syndrome with… Orphanet, ICD-10, OMIM
X-linked complicated spastic paraplegia type 1 306617 A congenital, X-linked, clinical… Orphanet
X-linked complicated corpus callosum dysgenesis 1497 A congenital, X-linked, clinical… Orphanet, OMIM, ICD-10
X-linked cleft palate and ankyloglossia 324601 X-linked cleft palate and ankyloglossia… Orphanet, OMIM, ICD-10
X-linked Charcot-Marie-Tooth disease type 5 99014 A rare form of X-linked Charcot-Marie-… Orphanet, ICD-10, OMIM
X-linked Charcot-Marie-Tooth disease type 1 101075 X-linked Charcot-Marie-Tooth disease… Orphanet, OMIM, MeSH, ICD-10
X-linked Charcot-Marie-Tooth disease type 6 352675 X-linked Charcot-Marie-Tooth disease… Orphanet, OMIM, ICD-10
X-linked Charcot-Marie-Tooth disease type 4 101078 X-linked Charcot-Marie-Tooth disease… Orphanet, ICD-10, OMIM
X-linked cerebral adrenoleukodystrophy 139396 A progressive peroxisomal disease,… Orphanet, OMIM, ICD-10
X-linked centronuclear myopathy 596 A rare X-linked congenital myopathy… Orphanet, ICD-10, MeSH, OMIM
X-linked central congenital hypothyroidism with late-onset testicular enlargement 329235 X-linked central congenital… Orphanet, ICD-10, OMIM
X-linked Alport syndrome-diffuse leiomyomatosis 1018 A rare renal disease characterized by… Orphanet, ICD-10, OMIM, OMIM
X-linked Alport syndrome 88917 Orphanet, MedDRA, ICD-10, OMIM
Download XLSX
Download PDF