Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
Jump to:
Preferred Name

piebaldism
Synonyms

PBT

partial albinism

piebald trait

piebaldism
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://purl.obolibrary.org/obo/MONDO_0008244
altLabel

PBT

partial albinism

piebald trait

piebaldism
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.
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym

partial albinism

piebald trait

piebaldism
has_related_synonym

PBT
label

piebaldism
prefixIRI

MONDO:0008244
prefLabel

piebaldism
seeAlso

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

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0019290

http://purl.obolibrary.org/obo/MONDO_0021635

http://purl.obolibrary.org/obo/MONDO_0005328
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008244 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008244 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008244 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 MONDO LOOM
rgo:29239 GAMUTS 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://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 DOID 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 DDSS 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008244 EFO 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