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:

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

: arx, igbp1, rlim, mecp2, zc4h2, clcn4, aff2, nrxn1, sms, huwe1, dnmt3a, foxp1, las1l, cul4b, atp6ap2, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000508 - syndromic intellectual disability

MONDO:0000508 - syndromic intellectual disability

MIM:

MIM:300486 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL
MIM:300860 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN
MIM:309583 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

MIM:300486 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL

MIM:300860 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

MIM:309583 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

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

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

Parent(s): intellectual disability (is_a)