Schuurs-Hoeijmakers Syndrome

Summary

DOID:0070047 - Schuurs-Hoeijmakers Syndrome

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2.

Synonyms: autosomal dominant mental retardation 17, MRD17, SHMS

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

: pacs1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014006 - Schuurs-Hoeijmakers syndrome

MONDO:0014006 - Schuurs-Hoeijmakers syndrome

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)