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DOID:0060590 - XFE progeroid syndrome
Disease Ontology 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.
Synonyms: XFEPS, XPF-ERCC1 progeroid syndrome,
Echinobase Genes : ercc4
MIM:610965 - xfe progeroid syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)