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DO Term : Coffin-Siris syndrome 12 [DOID:0112370] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
  • synonyms:
  • 619325,
  • OMIM:619325,
  • CSS12
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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