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DO Term : Treacher Collins syndrome 1 [DOID:0080789] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.

synonyms:
154500,
OMIM:154500

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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