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DO Term : cerebrooculofacioskeletal syndrome 1 [DOID:0080911] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
  • synonyms:
  • 214150,
  • OMIM:214150
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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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