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DOID:0080911 - cerebrooculofacioskeletal syndrome 1
Disease Ontology Definition:A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
Synonyms:
Echinobase Genes : ercc6
MIM:214150 - cerebrooculofacioskeletal syndrome 1; cofs1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee