autosomal dominant intellectual developmental disorder 52

Summary

DOID:0080231 - autosomal dominant intellectual developmental disorder 52

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22.

Synonyms: autosomal dominant mental retardation 52

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

: ash1l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030918 - intellectual disability, autosomal dominant 52

MONDO:0030918 - intellectual disability, autosomal dominant 52

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

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

Parent(s): autosomal dominant intellectual developmental disorder (is_a)