Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Piebaldism
Synonyms

Piebald Trait
Definitions

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.
ID

http://purl.bioontology.org/ontology/MESH/D016116
altLabel

Piebald Trait

Albinism, Partial

Cutaneous Albinism

Partial Albinism

Albinism, Cutaneous
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0080024
DC

1
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.
DX

19910101
FX

D014849
HN

91
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D019009
Machine permutation

91
Mapped from

http://purl.bioontology.org/ontology/MESH/C537301

http://purl.bioontology.org/ontology/MESH/C537302

http://purl.bioontology.org/ontology/MESH/C537303

http://purl.bioontology.org/ontology/MESH/C535508

http://purl.bioontology.org/ontology/MESH/C536955
MDA

19900606
MMR

20160701
MN

C16.320.850.080.600

C16.320.290.040.600

C16.320.565.100.102.600

C17.800.621.440.102.600

C18.452.648.100.102.600

C17.800.827.080.600
notation

D016116
prefLabel

Piebaldism
TERMUI

T842287

T047883

T047885

T047884
TH

OMIM (2013)

NLM (1991)

GHR (2014)

ORD (2010)
tui

T019
subClassOf

http://purl.bioontology.org/ontology/MESH/D000417
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/6479008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2630 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10084262 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/6479008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10084262 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003370 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/164920 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10084262 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/718122005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D016116 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU031056 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.39 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718122005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/172800 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU032159 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0008244 EFO LOOM
http://purl.obolibrary.org/obo/DOID_3263 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85009 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080.600 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15277 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15348 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102.600 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000204 DERMO LOOM
http://purl.obolibrary.org/obo/NCIT_C85009 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084262 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Piebaldism CSEO LOOM
http://purl.jp/bio/4/id/200906054599919499 IOBC LOOM
http://www.gamuts.net/entity#piebaldism GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080.600 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2884 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085498 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_3263 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3263 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3263 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3263 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3263 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3263 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040.600 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3263 NATPRO LOOM
http://id.nlm.nih.gov/mesh/D016116 MDM LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Piebaldism RPO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0080024 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/718122005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016116 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016680 OMIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2612 HRDO LOOM