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DO Term : Schuurs-Hoeijmakers Syndrome [DOID:0070047] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 615009,
  • MRD17,
  • OMIM:615009,
  • SHMS,
  • autosomal dominant mental retardation 17
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents