Xeroderma pigmentosum, complementation group e

Preferred Label : Xeroderma pigmentosum, complementation group e;

CISMeF acronym : XPE; XP5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XPE; XP5; Xeroderma pigmentosum V; Xp, group e;

Inheritance : Autosomal recessive;

Prefixed ID : #278740;

Details

Origin ID

278740;

UMLS CUI

C1848411;

Automatic exact mappings (from CISMeF team)
- DDB1 wt Allele [NCIt concept]
- DDB2 wt Allele [NCIt concept]
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma pigmentosum [PASCAL descriptor]
- damage specific DNA binding protein 2 [ORDO Gene]
- xeroderma pigmentosum [MeSH Descriptor]
- xeroderma pigmentosum [MeSH concept]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group E [NCIt concept]
- Xeroderma pigmentosum E [ICD-11 More detail]
- Xeroderma pigmentosum complementation group E [ORDO Disease]
- 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 concept]
- xeroderma pigmentosum, complementation group E [MeSH Supplementary Concept]
- xeroderma pigmentosum, group e [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group E [DO Concept]
Genes related to phenotype
- Dna damage-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dermal atrophy [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Keratitis [HPO term]
- Melanoma [HPO term]
- Photophobia [HPO term]
- Poikiloderma [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Telangiectasia [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group E [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group E [NCIt concept]
- Xeroderma pigmentosum complementation group E [ORDO Disease]
- 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]

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