JSON

piebaldism

^ http://purl.obolibrary.org/obo/MONDO_0008244

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. [ Orphanet:2884 ]

Term info

database cross reference
  • UMLS:C0080024 (Orphanet:2884/e)
  • ICD9:270.2 (MONDO:relatedTo)
  • OMIM:172800 (Orphanet:2884/e)
  • ICD10CM:E70.3 (Orphanet:2884/ntbt)
  • DOID:3263 (MONDO:equivalentTo)
  • GARD:0004344 (MONDO:equivalentTo)
  • NCIT:C85009 (MONDO:equivalentTo)
  • SCTID:6479008 (MONDO:equivalentTo)
  • Orphanet:2884 (OMIM:172800)
  • MESH:D016116 (Orphanet:2884/e)
Subsets

gard_rare, ordo_disease

abbreviation
PBT [ MONDO:Lexical OMIM:172800 ]

definition

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2884, http://identifiers.org/mesh/D016116, http://purl.obolibrary.org/obo/NCIT_C85009, http://linkedlifedata.com/resource/umls/id/C0080024, http://identifiers.org/snomedct/6479008, http://purl.obolibrary.org/obo/DOID_3263, https://omim.org/entry/172800

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0043209, http://purl.obolibrary.org/obo/MONDO_0020191

has exact synonym

piebaldism, piebald trait, partial albinism

id

MONDO:0008244

seeAlso

https://rarediseases.info.nih.gov/diseases/4344/piebaldism