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Disease Ontology Browser
XFE progeroid syndrome (DOID:0060590)
Synonyms: XFEPS; XPF-ERCC1 progeroid syndrome
Alt IDs: OMIM:610965, MESH:C567043
Definition: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory