Disease Index
9,486 diseasesX-linked cerebellar ataxia
X-linked form of cerebellar ataxia
X-linked cerebral adrenoleukodystrophy
X-linked cerebral-cerebellar-coloboma syndrome syndrome
human disease
X-linked chondrodysplasia punctata
Human disease
MeSH: C002806
X-linked cleft palate with or without ankyloglossia
cleft palate that has material basis in mutation in the TBX22 gene on chromosome Xq21
MeSH: C536426
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
human disease
X-linked complex spastic paraplegia
human disease
X-linked complicated corpus callosum dysgenesis
medical condition
MeSH: C564115
X-linked complicated spastic paraplegia type 1
human disease
X-linked cone dysfunction syndrome with myopia
MeSH: C564092
X-linked cone-rod dystrophy 2
cone-rod dystrophy that has material basis in variation in the chromosome region Xq27
MeSH: C564717
X-linked congenital disorder of glycosylation with intellectual disability as a major feature
human disease
X-linked congenital generalized hypertrichosis
MeSH: C538388
X-linked congenital stationary night blindness
medical condition
ICD: H53.6
X-linked corneal dermoid
MeSH: C535376
X-linked diffuse leiomyomatosis-Alport syndrome
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families
MeSH: C537113
X-linked disease
monogenic disease that has material basis in mutations in genes on the X chromosome
MeSH: D040181
X-linked distal hereditary motor neuropathy
X-linked form of distal hereditary motor neuropathy
X-linked distal spinal muscular atrophy type 3
human disease
MeSH: C564506
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males
X-linked dominant intellectual disability-epilepsy syndrome
human disease
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
human disease
X-linked dystonia-parkinsonism
focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1
MeSH: C564048
X-linked Emery-Dreifuss muscular dystrophy 6
Emery-Dreifuss muscular dystrophy that has material basis in an X-linked recessive mutation of FHL1 on chromosome Xq26.3
X-linked endothelial corneal dystrophy
Human disease
MeSH: C567587
X-linked epilepsy-learning disabilities-behavior disorders syndrome
human disease
MeSH: C564505
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
human disease
X-linked hypertrichosis
chromosomal disorder
MeSH: C538388
X-linked hypophosphatemic rickets
Human disease
ICD: E83.31MeSH: D053098
X-linked ichthyosis
skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males
MeSH: D016114