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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models