XFE progeroid syndrome

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Echinobase

Summary

Literature (0)

DOID:0060590 - XFE progeroid syndrome

Disease Ontology 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.

Synonyms: XFEPS, XPF-ERCC1 progeroid syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ercc4

MIM:

MIM:610965 - xfe progeroid syndrome

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): autosomal recessive disease (is_a), progeroid syndrome (is_a), syndrome (is_a)