ZFIN Human Disease: Schuurs-Hoeijmakers Syndrome

OBO ID: DOID:0070047

Term Name:	Schuurs-Hoeijmakers Syndrome		Search Ontology:
Synonyms:	autosomal dominant mental retardation 17 MRD17 SHMS
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. https://www.ncbi.nlm.nih.gov/pubmed/26842493
References:	OMIM:615009
Ontology:	Human Disease ( DOID:0070047 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER Schuurs-Hoeijmakers Syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PACS1	pacs1a pacs1b	Schuurs-Hoeijmakers syndrome	615009

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None