syndromic intellectual disability

Summary

DOID:0050888 - syndromic intellectual disability

Disease Ontology Definition:An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

Synonyms:

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

: LOC585120, LOC762707, cask, atp6ap2, pqbp1, hsd17b10, phf8, igbp1

OMIM:

MIM:300486 - mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
MIM:300860 - mental retardation, x-linked, syndromic, nascimento type; mrxsn
MIM:309583 - mental retardation, x-linked, syndromic, snyder-robinson type; mrxssr

MIM:300486 - mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance

MIM:300860 - mental retardation, x-linked, syndromic, nascimento type; mrxsn

MIM:309583 - mental retardation, x-linked, syndromic, snyder-robinson type; mrxssr

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

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

Parent(s): intellectual disability (is_a)