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DO Term : chromosome 17q23.1-q23.2 deletion syndrome [DOID:0060405] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

synonyms:
613355,
OMIM:613355,
17q23.1-q23.2 microdeletion syndrome,
ORDO:261279,
ICD10CM:Q93.5,
GARD:10936,
17q23.1q23.2 microdeletion syndrome

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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