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DOID:0080910 - cerebrooculofacioskeletal syndrome
Disease Ontology Definition:A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
Synonyms:
Xenbase Genes : ercc2, ercc5, ercc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Cockayne syndrome (is_a)