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Disease Ontology Browser
Van Esch-O'Driscoll syndrome (DOID:0111840)
Alliance: disease page
Synonyms: MRXSVEOD; VEODS; X-linked intellectual disability, Van Esch type; X-linked syndromic mental retardation Van Esch-O'Driscoll type
Alt IDs: OMIM:301030, ORDO:163976
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory