Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase

Preferred Label : Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 131880;

Détails

Origin ID

131880;

UMLS CUI

C1851570;

Currated CISMeF NLP mapping
- epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase [MeSH concept]
- epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase [MeSH Supplementary Concept]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Infantile onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase [MeSH Supplementary Concept]
- epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase [MeSH concept]

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

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