Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	CHERUBISM
Synonyms	CRBM
ID	http://purl.bioontology.org/ontology/OMIM/118400
altLabel	CRBM
cui	C0008029
Gene Locus	4p16.3
Gene Symbol	SH3BP2 CRPM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018974 http://purl.bioontology.org/ontology/OMIM/MTHU018984 http://purl.bioontology.org/ontology/OMIM/MTHU018985 http://purl.bioontology.org/ontology/OMIM/MTHU018982 http://purl.bioontology.org/ontology/OMIM/MTHU018976 http://purl.bioontology.org/ontology/OMIM/MTHU018978 http://purl.bioontology.org/ontology/OMIM/MTHU018977 http://purl.bioontology.org/ontology/OMIM/MTHU018969 http://purl.bioontology.org/ontology/OMIM/MTHU018971 http://purl.bioontology.org/ontology/OMIM/MTHU018973 http://purl.bioontology.org/ontology/OMIM/MTHU018979 http://purl.bioontology.org/ontology/OMIM/MTHU018986 http://purl.bioontology.org/ontology/OMIM/MTHU018975 http://purl.bioontology.org/ontology/OMIM/MTHU018970 http://purl.bioontology.org/ontology/OMIM/MTHU018987 http://purl.bioontology.org/ontology/OMIM/MTHU018980 http://purl.bioontology.org/ontology/OMIM/MTHU018983 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU002992 http://purl.bioontology.org/ontology/OMIM/MTHU018972 http://purl.bioontology.org/ontology/OMIM/MTHU018981 http://purl.bioontology.org/ontology/OMIM/MTHU001173
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	118400
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CHERUBISM
Scope Statement	Onset 14 months to 4 years of age [MISCELLANEOUS] Caused by mutation in the SH3 domain-binding protein-2 gene (SH3BP2, 602104.0001) [MOLECULAR BASIS] Progresses through puberty, then stabilizes [MISCELLANEOUS] May regress in adulthood [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10070535	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/J06y4	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10070536	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/76098004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D5-14800	SNMI	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000745	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/76098004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10070535	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10070535	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10070536	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D002636	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D5-14810	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10CM/M27.8	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/J06y3	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D002636	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10070536	MDRFRE	CUI
http://purl.obolibrary.org/obo/MONDO_0007315	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007315	EFO	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.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	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_1856	BAO	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	EFO	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://nanbyodata.jp/ontology/NANDO_2200444	NANDO	LOOM