Disease Index
9,486 diseasesX-linked intellectual disability, Schimke type
human disease
MeSH: C536630
X-linked intellectual disability, Schutz type
human disease
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Stevenson type
, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
X-linked intellectual disability, Stocco dos Santos type
human disease
MeSH: C537495
X-linked intellectual disability, Stoll type
X-linked intellectual disability, Sutherland-Haan type
human disease
X-linked intellectual disability, van Esch type
X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism
X-linked lissencephaly with abnormal genitalia
MeSH: C564563
X-linked lymphoproliferative disease
lymphoproliferative disorder
ICD: D82.3
X-linked mandibulofacial dysostosis
MeSH: C537102
X-linked mendelian susceptibility to mycobacterial diseases
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
human disease
MeSH: C567068
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
human disease
MeSH: C567070
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities
MeSH: C537456
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
human disease
X-linked myopathy with excessive autophagy
Human disease
ICD: G71.8MeSH: C536522
X-linked myotubular myopathy
medical condition
MeSH: C538647
X-linked myotubular myopathy-abnormal genitalia syndrome
human disease
MeSH: C564561
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked non progressive cerebellar ataxia
human disease
MeSH: C567478
X-linked nonsyndromic deafness
human disease
MeSH: C564727
X-linked osteoporosis with fractures
human disease
X-linked parkinsonism-spasticity syndrome
human disease
X-linked progressive cerebellar ataxia
human disease
MeSH: C563134
X-linked pure spastic paraplegia
human disease
X-linked recessive hypoparathyroidism
human disease
MeSH: C563238
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
gene, known to be involved in oral-facial-digital syndrome
X-linked reticulate pigmentary disorder
Rare X-linked genetic condition
MeSH: C564461