Xeroderma Pigmentosum, Complementation Group E

Preferred Label : Xeroderma Pigmentosum, Complementation Group E;

NCIt synonyms : XP-E; Xeroderma Pigmentosum Group E;

NCIt definition : Xeroderma pigmentosum caused by bi-allelic mutations in DDB2 gene.;

Details

Origin ID

C114771;

UMLS CUI

C1848411;

Currated CISMeF NLP mapping
- Xeroderma pigmentosum E [ICD-11 More detail]
- Xeroderma pigmentosum complementation group E [ORDO Disease]
- Xeroderma pigmentosum, complementation group e [OMIM Phenotype]
- Xeroderma pigmentosum, group E (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group E [DO Concept]
- xeroderma pigmentosum group E [Disease (Nov.)]
- xeroderma pigmentosum, complementation group E [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group E [MeSH concept]
- xeroderma pigmentosum, group e [SNOMED Notion]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- damage specific DNA binding protein 2 [ORDO Gene]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma pigmentosum complementation group E [ORDO Disease]
- Xeroderma pigmentosum, complementation group e [OMIM Phenotype]
- Xeroderma pigmentosum, group E (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group E [DO Concept]
- xeroderma pigmentosum group E [Disease (Nov.)]
- xeroderma pigmentosum, complementation group E [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group E [MeSH concept]
- xeroderma pigmentosum, group e [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- DDB2 Gene [NCIt concept]
disease_may_have_associated_disease
- Cutaneous Melanoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Skin Squamous Cell Carcinoma [NCIt concept]
related_to_genetic_biomarker
- DDB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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