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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 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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory