Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Piebaldism

Synonyms
Definitions

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.

ID

http://www.orpha.net/ORDO/Orphanet_2884

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal dominant

hasDbXref

MeSH:D016116

MedDRA:10084262

ICD-11:EC23.2Y

UMLS:C0080024

OMIM:172800

ICD-10:E70.3

label

Piebaldism

notation

ORPHA:2884

part_of

http://www.orpha.net/ORDO/Orphanet_183469

http://www.orpha.net/ORDO/Orphanet_79376

prefixIRI

ORDO:Orphanet_2884

prefLabel

Piebaldism

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_183469

http://www.orpha.net/ORDO/Orphanet_79376

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2884 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 DOID LOOM
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.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.bioontology.org/ontology/MESH/D016116 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
http://www.gamuts.net/entity#piebaldism GAMUTS REST