Visualize Submit Comment
Metadata
ID DOID:0080914
PURL http://purl.obolibrary.org/obo/DOID_0080914 Copy
Name cerebrooculofacioskeletal syndrome 4
Definition A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/23623389/
Xrefs

MESH:C565184

MIM:610758

Parent Relationships

is_a cerebrooculofacioskeletal syndrome

Add an item to the term tracker