OBO ID: DOID:0060590
Term Name: XFE progeroid syndrome Search Ontology:
Synonyms:
  • XFEPS
  • XPF-ERCC1 progeroid syndrome
Definition: A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/17183314
References:
Ontology: Human Disease   (DOID:0060590)
OTHER XFE progeroid syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC4 XFE progeroid syndrome 610965
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None