You are using an outdated browser. Please upgrade your browser to improve your experience.

XFE progeroid syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0012590:  XFE progeroid syndrome
GARD:0010628: 
MESH:C567043: 
UMLS:C1970416: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)