cerebrooculofacioskeletal syndrome 1

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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

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

: ercc6

MIM:

MIM:214150 - cerebrooculofacioskeletal syndrome 1; cofs1

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

Parent(s): cerebrooculofacioskeletal syndrome (is_a)