Search Ontology:
Human Disease

cerebrooculofacioskeletal syndrome 2

Term ID
DOID:0080912
Synonyms
Definition
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/11443545/
References
Ontology
Human Disease   ( DOID:0080912 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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