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Summary Literature (0)
DOID:0080912 - cerebrooculofacioskeletal syndrome 2

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

Synonyms:

Xenbase Genes : ercc2


MIM:
MIM:610756 - CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): cerebrooculofacioskeletal syndrome (is_a)