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Summary Literature (0)
DOID:0070047 - Schuurs-Hoeijmakers Syndrome


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2.

Synonyms: MRD17, SHMS, autosomal dominant mental retardation 17

Xenbase Genes : pacs1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014006 - Schuurs-Hoeijmakers syndrome

OMIM:
OMIM:615009 - SCHUURS-HOEIJMAKERS SYNDROME; SHMS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)