Diseases

Name Orphanumber Description XREF(s)
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome 1568 A rare central nervous system… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Turner type 85328 X-linked intellectual disability,… Orphanet, OMIM, OMIM, ICD-10
X-linked intellectual disability, Golabi-Ito-Hall type 93947 An X-linked intellectual disability… Orphanet, ICD-10
X-linked intellectual disability, Van Esch type 163976 A rare, genetic, syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Nascimento type 163956 X-linked intellectual disability,… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Hedera type 93952 X-linked intellectual disability,… Orphanet, OMIM
X-linked intellectual disability-short stature-overweight syndrome 457240 X-linked intellectual disability-short… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Najm type 163937 Najm type X-linked intellectual deficit… Orphanet, ICD-10, OMIM
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 317476 X-linked immunodeficiency with… Orphanet, OMIM, ICD-10
X-linked hypophosphatemia 89936 A rare hereditary renal phosphate-… Orphanet, OMIM, ICD-10
X-linked hypohidrotic ectodermal dysplasia 181 Orphanet, OMIM, MeSH, ICD-10
X-linked hyper-IgM syndrome 101088 Orphanet, ICD-10, OMIM
X-linked hereditary sensory and autonomic neuropathy with deafness 139583 A rare peripheral neuropathy… 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 external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 500188 A rare syndromic genetic deafness… Orphanet, OMIM, ICD-10
X-linked erythropoietic protoporphyria 443197 A rare disorder of porphyrin and heme… Orphanet, OMIM, ICD-10
X-linked epilepsy-learning disabilities-behavior disorders syndrome 85294 X-linked epilepsy-learning disabilities… Orphanet, OMIM, ICD-10
X-linked Emery-Dreifuss muscular dystrophy 98863 Orphanet, ICD-10, OMIM, OMIM
X-linked Ehlers-Danlos syndrome 75497 A rare systemic disease characterized… Orphanet, ICD-10, OMIM, MeSH
X-linked dystonia-parkinsonism 53351 X-linked dystonia-parkinsonism (XDP) is… Orphanet, OMIM, ICD-10
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