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DOID:0111840 - Van Esch-O'Driscoll syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
Synonyms: MRXSVEOD, VEODS, X-linked intellectual disability, Van Esch type, X-linked syndromic mental retardation Van Esch-O'Driscoll type,
Xenbase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee