About   Help   FAQ
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 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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory