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DO Term : cerebrooculofacioskeletal syndrome 2 [DOID:0080912] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.

synonyms:
OMIM:610756,
MESH:C565185,
610756

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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