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Disease Ontology Browser
XFE progeroid syndrome (DOID:0060590)
Alliance: disease page
Synonyms: XFEPS; XPF-ERCC1 progeroid syndrome
Alt IDs: OMIM:610965, MESH:C567043
Definition: A progeroid 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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory