cerebrooculofacioskeletal syndrome 1

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Echinobase

Summary

Literature (0)

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ercc6

OMIM:

MIM:214150 - cerebrooculofacioskeletal syndrome 1; cofs1

MIM:214150 - cerebrooculofacioskeletal syndrome 1; cofs1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee