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DO Term : spondylocostal dysostosis 4 [DOID:0112364] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1.

synonyms:
autosomal recessive spondylocostal dysostosis 4,
613686,
SCDO4,
OMIM:613686

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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