Dowling-degos disease 4

Preferred Label : Dowling-degos disease 4;

Symbol : DDD4;

CISMeF acronym : DDD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein O-glucosyltransferase-1 gene (POGLUT1, 615618.0001);

Prefixed ID : #615696;

Details

Origin ID

615696;

UMLS CUI

C3810313;

DO Cross reference
- Dowling-Degos disease [DO Concept]
Genes related to phenotype
- Protein o-glucosyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hypergranulosis [HPO term]
ORDO concept(s)
- Dowling-Degos disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Dowling-Degos disease [DO Concept]
- Dowling-Degos disease [ORDO Disease]

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