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DO Term : chromosome 16p11.2 duplication syndrome [DOID:0060430] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.

synonyms:
proximal 16p11.2 microduplication syndrome,
ORDO:370079,
OMIM:614671,
proximal dup(16)(p11.2),
ICD10CM:Q92.3,
614671,
proximal trisomy 16p11.2

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

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