BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

piebaldism

Synonyms

Partial albinism

Definitions

OMIM mapping confirmed by DO. [SN]. An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.

ID

http://purl.obolibrary.org/obo/DOID_3263

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D016116

SNOMEDCT_US_2020_03_01:718122005

ICD10CM:E70.39

OMIM:172800

UMLS_CUI:C0080024

GARD:4344

NCI:C85009

ORDO:2884

has exact synonym

Partial albinism

PIEBALD TRAIT

has_obo_namespace

disease_ontology

id

DOID:3263

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

piebaldism

notation

DOID:3263

prefLabel

piebaldism

textual definition

An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.

subClassOf

http://purl.obolibrary.org/obo/DOID_16

http://purl.obolibrary.org/obo/DOID_0050736

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3263 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3263 FNS-H 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.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 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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