Xeroderma Pigmentosum Variant Type

Preferred Label : Xeroderma Pigmentosum Variant Type;

NCIt synonyms : XPV;

NCIt definition : A type of xeroderma pigmentosum resulting from mutation(s) in the POLH gene, encoding DNA polymerase eta. This form of the disease is characterized by normal DNA excision repair, but defective post-replication repair of DNA at UV-damaged sites.;

Détails

Origin ID

C141367;

UMLS CUI

C1848410;

Currated CISMeF NLP mapping
- Xeroderma pigmentosum variant [ORDO Disease]
- Xeroderma pigmentosum, variant type [OMIM Phenotype]
- Xeroderma pigmentosum, variant type [MeSH concept]
- xeroderma pigmentosum variant type [DO Concept]
- xeroderma pigmentosum variant type [Disease (Nov.)]
- xeroderma pigmentosum, variant type [MeSH Supplementary Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum variant [ORDO Disease]
- Xeroderma pigmentosum, variant type [OMIM Phenotype]
- Xeroderma pigmentosum, variant type [MeSH concept]
- xeroderma pigmentosum variant type [DO Concept]
- xeroderma pigmentosum variant type [Disease (Nov.)]
- xeroderma pigmentosum, variant type [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- POLH Gene [NCIt concept]
disease_may_have_associated_disease
- Cutaneous Melanoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Skin Squamous Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- POLH Gene [NCIt concept]
- POLH wt Allele [NCIt concept]
related_to_genetic_biomarker
- POLH Gene [NCIt concept]

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

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