Dyschromatosis universalis hereditaria 2

Preferred Label : Dyschromatosis universalis hereditaria 2;

Symbol : DUH2;

CISMeF acronym : DUH2;

Type : Phenotype or locus, molecular basis unknown;

Description : Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). For a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 (127500).;

Prefixed ID : %612715;

Details

Origin ID

612715;

UMLS CUI

C2675183;

Broader ORDO disease(s)
- Dyschromatosis universalis hereditaria [ORDO Disease]
Currated CISMeF NLP mapping
- dyschromatosis universalis hereditaria 2 [MeSH concept]
- dyschromatosis universalis hereditaria 2 [MeSH Supplementary Concept]
DO Cross reference
- dyschromatosis universalis hereditaria [DO Concept]
ORDO concept(s)
- Dyschromatosis universalis hereditaria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dyschromatosis universalis hereditaria 2 [MeSH Supplementary Concept]
- dyschromatosis universalis hereditaria 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

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