Diseases

Name Orphanumber Description XREF(s)
X-linked lymphoproliferative disease due to XIAP deficiency 538934 A rare, genetic, primary… Orphanet, ICD-10, OMIM
X-linked lissencephaly with abnormal genitalia 452 A rare genetic multiple congenital… Orphanet, OMIM, ICD-10
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 482606 A rare genetic disease characterized by… Orphanet
X-linked intellectual disability, Cantagrel type 85277 A rare X-linked intellectual disability… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Cabezas type 85293 An X-linked syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Turner type 85328 X-linked intellectual disability,… Orphanet, OMIM, OMIM, ICD-10
X-linked intellectual disability, Hedera type 93952 X-linked intellectual disability,… Orphanet, OMIM
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 324410 X-linked intellectual disability-… Orphanet, ICD-10, OMIM
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome 480907 A rare multiple congenital anomalies/… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Snyder type 3063 X-linked intellectual disability,… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Siderius type 85287 X-linked intellectual disability,… Orphanet, OMIM, MeSH, ICD-10
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 459070 A rare genetic multiple congenital… Orphanet, ICD-10, OMIM
X-linked intellectual disability-hypotonia-movement disorder syndrome 457260 A rare, genetic, syndromic intellectual… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Stocco Dos Santos type 85288 X-linked intellectual disability,… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Sutherland-Haan type 93950 Orphanet, ICD-10
X-linked intellectual disability due to GRIA3 mutations 364028 A rare, genetic, X-linked syndromic… Orphanet, ICD-10, OMIM
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 423479 X-linked intellectual disability-limb… Orphanet, ICD-10
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 85329 A rare X-linked syndromic intellectual… Orphanet, OMIM, ICD-10
X-linked intellectual disability-short stature-overweight syndrome 457240 X-linked intellectual disability-short… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Van Esch type 163976 A rare, genetic, syndromic intellectual… Orphanet, OMIM, ICD-10
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