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DO Term : cerebrooculofacioskeletal syndrome 4 [DOID:0080914] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
  • synonyms:
  • OMIM:610758,
  • MESH:C565184,
  • 610758
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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





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