XFE progeroid syndrome

XFE progeroid syndrome

http://purl.obolibrary.org/obo/DOID_0060590

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/17183314 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: XFEPS XPF-ERCC1 progeroid syndrome

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Term information

database cross reference

MIM:610965
MESH:C567043
GARD:10628

Subsets

DO_rare_slim

acronym

XFEPS

has obo namespace

disease_ontology

DOID:0060590

Term relations

Subclass of:

autosomal recessive disease
progeroid syndrome
has material basis in some autosomal recessive inheritance