Search Ontology:
Human Disease

cerebrooculofacioskeletal syndrome 3

Term ID
DOID:0080913
Synonyms
Definition
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. https://pubmed.ncbi.nlm.nih.gov/24700531/
References
Ontology
Human Disease   ( DOID:0080913 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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