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DO Term : spondylocostal dysostosis 5 [DOID:0112363] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in the TBX6 gene on chromosome 16p11.2.

synonyms:
OMIM:122600,
SCDO5,
122600

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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