syndromic X-linked intellectual disability Hedera type Disease Ontology Browser

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Disease Ontology Browser

syndromic X-linked intellectual disability Hedera type (DOID:0060806)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic, Hedera type; MRXE; MRXSH; X-linked mental retardation with epilepsy
Alt IDs: OMIM:300423, ORDO:93952
Definition: A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.

Contributing Projects: 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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