Xeroderma pigmentosum, complementation group D

Preferred Label : Xeroderma pigmentosum, complementation group D;

Symbol : XPD;

CISMeF acronym : XPDC; XPD; XPH; XP8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XPH; XPDC; Xp, group h; Xeroderma pigmentosum iv; XP8; Xp4 xeroderma pigmentosum VIII; Xp, group D;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group-2 gene (ERCC2, 126340.0001);

Neoplasia : Early onset skin cancer (basal cell, squamous cell and malignant melanoma);

Laboratory abnormalities : Defective DNA repair after ultraviolet radiation damage;

Prefixed ID : #278730;

Details

Origin ID

278730;

UMLS CUI

C0268138;

Automatic exact mappings (from CISMeF team)
- ERCC2 wt Allele [NCIt concept]
- X-Linked Dystonia-Parkinsonism [NCIt concept]
- symbol withdrawn XPD [HGNC gene]
- xeroderma pigmentosum group D protein [MeSH concept]
- xeroderma pigmentosum group d protein [MeSH Descriptor]
Currated CISMeF NLP mapping
- Xeroderma Pigmentosum, Complementation Group D [NCIt concept]
- Xeroderma pigmentosum D [ICD-11 More detail]
- Xeroderma pigmentosum complementation group D [ORDO Disease]
- Xeroderma pigmentosum, group D (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group D [Disease (Nov.)]
- xeroderma pigmentosum group D [DO Concept]
- xeroderma pigmentosum, complementation group D [MeSH concept]
- xeroderma pigmentosum, complementation group D [MeSH Supplementary Concept]
- xeroderma pigmentosum, group d [SNOMED Notion]
DO Cross reference
- xeroderma pigmentosum group D [DO Concept]
Genes related to phenotype
- Ercc excision repair 2, tfiih core complex helicase subunit [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Choreoathetosis [HPO term]
- Congenital ichthyosis [HPO term]
- Conjunctivitis [HPO term]
- Corneal neovascularization [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]
- Hyporeflexia [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Low intelligence [HPO term]
- Melanoma [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Photophobia [HPO term]
- Poikiloderma [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Telangiectasia [HPO term]
- Xeroderma pigmentosum [HPO term]
NCIt concept(s)
- ERCC2 Gene [NCIt concept]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
- Xeroderma pigmentosum complementation group D [ORDO Disease]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xeroderma Pigmentosum, Complementation Group D [NCIt concept]
- Xeroderma pigmentosum D [ICD-11 More detail]
- Xeroderma pigmentosum complementation group D [ORDO Disease]
- Xeroderma pigmentosum, group D (disorder) [SNOMED CT concept]
- xeroderma pigmentosum group D [DO Concept]
- xeroderma pigmentosum group D [Disease (Nov.)]
- xeroderma pigmentosum, complementation group D [MeSH Supplementary Concept]
- xeroderma pigmentosum, complementation group D [MeSH concept]
- xeroderma pigmentosum, group d [SNOMED Notion]

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