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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
cerebrooculofacioskeletal syndrome 1  
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 3  
cerebrooculofacioskeletal syndrome 4  

Synonyms
Exact Synonyms: COFS1 ;   Pena-Shokeir syndrome, type II
Primary IDs: MESH:C562434
Alternate IDs: DOID:9003294 ;   MIM:214150
Xrefs: NCI:C173085
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/20456449/ "DO" "DO"

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