autosomal dominant intellectual developmental disorder 47

Summary

DOID:0080238 - autosomal dominant intellectual developmental disorder 47

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.

Synonyms: autosomal dominant mental retardation 47

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

: stag1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0030912 - intellectual disability, autosomal dominant 47

MONDO:0030912 - intellectual disability, autosomal dominant 47

MIM:

MIM:617635 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47; MRD47

MIM:617635 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47; MRD47

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)