Diseases

Name Orphanumber Description XREF(s)
X-linked hyper-IgM syndrome 101088 Orphanet, ICD-10, OMIM
X-linked hypohidrotic ectodermal dysplasia 181 Orphanet, OMIM, MeSH, ICD-10
X-linked hypophosphatemia 89936 A rare hereditary renal phosphate-… Orphanet, OMIM, ICD-10
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 317476 X-linked immunodeficiency with… Orphanet, OMIM, ICD-10
X-linked intellectual disability-psychosis-macroorchidism syndrome 3077 An X-linked syndromic intellectual… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Snyder type 3063 X-linked intellectual disability,… Orphanet, OMIM, ICD-10
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 324410 X-linked intellectual disability-… Orphanet, ICD-10, OMIM
X-linked intellectual disability due to GRIA3 mutations 364028 A rare, genetic, X-linked syndromic… Orphanet, ICD-10, OMIM
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-short stature-overweight syndrome 457240 X-linked intellectual disability-short… 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-cerebellar hypoplasia syndrome 137831 X-linked intellectual deficit-… Orphanet, ICD-10, OMIM
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, Najm type 163937 Najm type X-linked intellectual deficit… Orphanet, ICD-10, OMIM
X-linked intellectual disability, Nascimento type 163956 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 with isolated growth hormone deficiency 67045 Orphanet, OMIM, ICD-10
X-linked intellectual disability, Cantagrel type 85277 A rare X-linked intellectual disability… Orphanet, OMIM, ICD-10
X-linked intellectual disability, Siderius type 85287 X-linked intellectual disability,… Orphanet, OMIM, MeSH, ICD-10
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