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DO Term : Antley-Bixler syndrome without disordered steroidogenesis [DOID:0081290] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.

synonyms:
207410,
OMIM:207410

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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