OBO ID: DOID:0080911
Term Name: cerebrooculofacioskeletal syndrome 1 Search Ontology:
Synonyms:
Definition: A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. https://pubmed.ncbi.nlm.nih.gov/20456449/
References:
Ontology: Human Disease   ( DOID:0080911 )
Relationships
is a type of:
OTHER cerebrooculofacioskeletal syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC6 Cerebrooculofacioskeletal syndrome 1 214150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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