Preferred Name

Piebaldism [Disease/Finding]

Synonyms

Piebald Trait

ID

http://purl.bioontology.org/ontology/NDFRT/N0000003370

altLabel

Piebald Trait

Albinism, Partial

Piebaldism

Albinism, Cutaneous

cui

C0080024

MESH DEFINITION

Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

MESH DUI

D016116

MeSH name

Piebaldism

MESH UI

M0024621

NDFRT kind

DISEASE_KIND

notation

N0000003370

NUI

N0000003370

prefLabel

Piebaldism [Disease/Finding]

SNOMED CID

6479008

tui

T019

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000348

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