Term Name:
X-linked monogenic disease
Synonyms:
Definition:
A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
Ontology:
Human Disease [DOID:0050735] (
DOID:0050735
)
Relationships
is a type of:
monogenic disease
has subtype:
46,XY sex reversal 2
Abruzzo-Erickson syndrome
cataract 40
congenital bilateral absence of vas deferens
congenital nonspherocytic hemolytic anemia 1
corpus callosum agenesis-abnormal genitalia syndrome
developmental and epileptic encephalopathy 90
fetal akinesia deformation sequence syndrome X-linked
McLeod syndrome
Meester-Loeys syndrome
Melnick-Needles syndrome
non-syndromic X-linked intellectual disability
Ogden syndrome
ovarian dysgenesis 2
primary ovarian insufficiency 1
primary ovarian insufficiency 4
reducing body myopathy 1B
retinitis pigmentosa 2
retinitis pigmentosa 24
split hand-foot malformation 2
syndromic microphthalmia 1
syndromic microphthalmia 13
syndromic X-linked intellectual disability
TARP syndrome
X-linked cardiac valvular dysplasia
X-linked central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-linked dilated cardiomyopathy
X-linked dominant disease
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia
X-linked hypoparathyroidism
X-linked lissencephaly 1
X-linked lissencephaly 2
X-linked nonsyndromic deafness
X-linked panhypopituitarism
X-linked recessive disease
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked spermatogenic failure 4
X-linked spermatogenic failure 5
X-linked spermatogenic failure 6
X-linked spermatogenic failure 8
X-linked thrombophilia due to factor IX defect