Xeroderma pigmentosum, autosomal dominant, mild

Preferred Label : Xeroderma pigmentosum, autosomal dominant, mild;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant vs. multifactorial form; usually autosomal recessive;

Prefixed ID : 194400;

Détails

Origin ID

194400;

UMLS CUI

C1860231;

Currated CISMeF NLP mapping
- xeroderma pigmentosum, autosomal dominant, mild [MeSH concept]
- xeroderma pigmentosum, autosomal dominant, mild [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Erythema [HPO term]
- Freckling [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Neoplasm of the skin [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Xeroderma pigmentosum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- xeroderma pigmentosum, autosomal dominant, mild [MeSH Supplementary Concept]
- xeroderma pigmentosum, autosomal dominant, mild [MeSH concept]

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