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DO Term : cerebrooculofacioskeletal syndrome [DOID:0080910] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
  • synonyms:
  • GARD:6027,
  • PS214150,
  • OMIM:PS214150
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents