syndromic X-linked intellectual disability Hedera type

Summary

DOID:0060806 - syndromic X-linked intellectual disability Hedera type

Disease Ontology 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.

Synonyms: mental retardation, X-linked, syndromic, Hedera type, MRXE, MRXSH, X-linked mental retardation with epilepsy

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atp6ap2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010319 - syndromic X-linked intellectual disability Hedera type

MONDO:0010319 - syndromic X-linked intellectual disability Hedera type

MIM:

MIM:300423 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

MIM:300423 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)