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DO Term : chromosome 16p12.1 deletion syndrome [DOID:0060399] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
  • synonyms:
  • OMIM:136570,
  • 136570
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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