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DO Term : Stickler syndrome 1 [DOID:0080676] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

synonyms:
ORDO:90653,
OMIM:108300,
108300

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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