Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	SH3 DOMAIN-BINDING PROTEIN 2
Synonyms	CHERUBISM
ID	http://purl.bioontology.org/ontology/OMIM/602104
altLabel	CHERUBISM SH3BP2
cui	C1420022 C0008029
Gene Locus	4p16.3
Gene Symbol	SH3BP2 CRPM
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/602104.0005 http://purl.bioontology.org/ontology/OMIM/602104.0004 http://purl.bioontology.org/ontology/OMIM/602104.0003 http://purl.bioontology.org/ontology/OMIM/602104.0007 http://purl.bioontology.org/ontology/OMIM/602104.0002 http://purl.bioontology.org/ontology/OMIM/602104.0001 http://purl.bioontology.org/ontology/OMIM/602104.0006
MIMTYPEMEANING	Gene with known sequence
notation	602104
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SH3 DOMAIN-BINDING PROTEIN 2
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP71439-1	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10070535	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10070536	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/J06y4	RCD	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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101439	NCIT	LOOM
http://purl.org/skeletome/bonedysplasia#P000190	BDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C101439	BERO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15287	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_118689	ORDO	LOOM
http://purl.obolibrary.org/obo/PR_000014819	PR	LOOM
http://purl.obolibrary.org/obo/PR_000014819	NIFSTD	LOOM