FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term XFE progeroid syndrome ID (Ontology) DOID:0060590 (Human Disease)
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.
Also Known As "XFEPS" ; "XPF-ERCC1 progeroid syndrome"
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 Genes
 XFE progeroid syndrome       1
 for disease ribbon | XFE progeroid syndrome       1
 model of | XFE progeroid syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__progeroid syndrome___________|
                                 XFE progeroid syndrome  1 rec.
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Is a autosomal recessive disease
progeroid syndrome
Part of
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Synonyms
  • "XFEPS" EXACT OMO:0003012
    "XPF-ERCC1 progeroid syndrome" EXACT
Secondary IDs
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GARD:10628
MESH:C567043
MIM:610965