Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

BONE MORPHOGENETIC PROTEIN 2
Synonyms

BMP2A

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH CARDIAC ANOMALIES 1

BRACHYDACTYLY, TYPE A2

RECE-BMP2

REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 110 KB DOWNSTREAM OF BMP2

BONE MORPHOGENETIC PROTEIN 2A

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITHOUT CARDIAC ANOMALIES 1

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1

BMP2

CRANIOSYNOSTOSIS 7, MODIFIER OF

ID

http://purl.bioontology.org/ontology/OMIM/112261

altLabel

BMP2A

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH CARDIAC ANOMALIES 1

BRACHYDACTYLY, TYPE A2

RECE-BMP2

REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 110 KB DOWNSTREAM OF BMP2

BONE MORPHOGENETIC PROTEIN 2A

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITHOUT CARDIAC ANOMALIES 1

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1

BMP2

CRANIOSYNOSTOSIS 7, MODIFIER OF

cui

C1832702

C5543657

C5542952

C4479661

C5543658

C1332424

C3276340

Gene Locus

20p12

Gene Symbol

BDA2

SSFSC1

BMP2

BMP2A

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/112261.0003

http://purl.bioontology.org/ontology/OMIM/112261.0001

http://purl.bioontology.org/ontology/OMIM/112261.0002

http://purl.bioontology.org/ontology/OMIM/112261.0004

http://purl.bioontology.org/ontology/OMIM/112261.0005

http://purl.bioontology.org/ontology/OMIM/112261.0006

MIMTYPEMEANING

Gene with known sequence

notation

112261

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

BONE MORPHOGENETIC PROTEIN 2

tui

T047

T019

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/720569006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/720569006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537089 MESH CUI
http://purl.obolibrary.org/obo/NCIT_C21350 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0026262 OMIT LOOM
http://purl.obolibrary.org/obo/PR_000000164 PR LOOM
http://purl.obolibrary.org/obo/PR_000000164 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000000164 EFO LOOM
http://purl.obolibrary.org/obo/PR_000000164 OBA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00021655 PMAPP-PMO LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:01533 MIO LOOM
http://id.nlm.nih.gov/mesh/D055396 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.467.942.200.200 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D055396 MESH LOOM
http://purl.obolibrary.org/obo/MESH_D055396 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.529.942.200.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055396 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#38434 OCHV LOOM
http://www.limics.org/hrdo/rdfns#gen_id_18080 HRDO LOOM
http://purl.jp/bio/4/id/200906041124286730 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21350 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_179459 ORDO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_69167056_4b3c_4120_b46c_56acd9d36389 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_69167056_4b3c_4120_b46c_56acd9d36389 CVAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.644.276.954.200.200 RH-MESH LOOM