BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

cherubism

Synonyms
Definitions

OMIM mapping confirmed by DO. [SN]. A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.

ID

http://purl.obolibrary.org/obo/DOID_1856

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:M27.8

SNOMEDCT_US_2020_03_01:76098004

MESH:D002636

UMLS_CUI:C0008029

OMIM:118400

GARD:6036

NCI:C84630

has_obo_namespace

disease_ontology

id

DOID:1856

imported from

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

in_subset

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

label

cherubism

notation

DOID:1856

prefLabel

cherubism

textual definition

A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.

subClassOf

http://purl.obolibrary.org/obo/DOID_37

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1856 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1856 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1856 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1856 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1856 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1856 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007315 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007315 EFO LOOM
http://purl.obolibrary.org/obo/DOID_1856 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200444 NANDO LOOM
http://www.gamuts.net/entity#cherubism GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.540.170 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/J06y300 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.375.199 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_118400 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C84630 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.170 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/118400 OMIM LOOM
http://purl.obolibrary.org/obo/OMIT_0003961 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1856 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002636 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0008029 OCHV LOOM
http://id.nlm.nih.gov/mesh/D002636 MDM LOOM
http://purl.bioontology.org/ontology/SNMI/D5-14800 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.320.173 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_184 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_996 HRDO LOOM
http://identifiers.org/omim/118400 REXO LOOM
http://identifiers.org/omim/118400 GEXO LOOM
http://identifiers.org/omim/118400 RETO LOOM
http://purl.org/skeletome/bonedysplasia#Cherubism BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.500.174 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cherubism CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10070536 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_1856 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1856 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1856 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1856 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1856 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0007315 DOVES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039923 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2749 OCHV LOOM
http://radlex.org/RID/RID3739 RADLEX LOOM
http://purl.bioontology.org/ontology/MESH/D002636 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84630 NCIT LOOM
http://purl.jp/bio/4/id/200906008974988159 IOBC LOOM
http://purl.bioontology.org/ontology/RCD/J06y3 RCD LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU073148 OMIM 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: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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Provide any additional information about the requested term here.

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