XFE Progeroid Syndrome

Preferred Label : XFE Progeroid Syndrome;

NCIt synonyms : XFEPS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.;

Détails

Origin ID

C173111;

UMLS CUI

C1970416;

Currated CISMeF NLP mapping
- XFE progeroid syndrome [MeSH concept]
- XFE progeroid syndrome [MeSH Supplementary Concept]
- XFE progeroid syndrome [DO Concept]
- Xfe progeroid syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- XFE progeroid syndrome [MeSH Supplementary Concept]
- XFE progeroid syndrome [MeSH concept]
- Xfe progeroid syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- ERCC4 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients