Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

GROWTH/DIFFERENTIATION FACTOR 5
Synonyms

LPS-ASSOCIATED PROTEIN 4

LAP4

BRACHYDACTYLY, TYPE A2

CDMP1

BRACHYDACTYLY, TYPE A1, C

BMP14

BRACHYDACTYLY, TYPE C

SYMPHALANGISM, PROXIMAL, 1B

ACROMESOMELIC DYSPLASIA 2A

OSTEOARTHRITIS SUSCEPTIBILITY 5

MULTIPLE SYNOSTOSES SYNDROME 2

ACROMESOMELIC DYSPLASIA 2B

LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4

BONE MORPHOGENETIC PROTEIN 14

ACROMESOMELIC DYSPLASIA 2C

GDF5

CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1

ID

http://purl.bioontology.org/ontology/OMIM/601146

altLabel

LPS-ASSOCIATED PROTEIN 4

LAP4

BRACHYDACTYLY, TYPE A2

CDMP1

BRACHYDACTYLY, TYPE A1, C

BMP14

BRACHYDACTYLY, TYPE C

SYMPHALANGISM, PROXIMAL, 1B

ACROMESOMELIC DYSPLASIA 2A

OSTEOARTHRITIS SUSCEPTIBILITY 5

MULTIPLE SYNOSTOSES SYNDROME 2

ACROMESOMELIC DYSPLASIA 2B

LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4

BONE MORPHOGENETIC PROTEIN 14

ACROMESOMELIC DYSPLASIA 2C

GDF5

CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1

cui

C1832702

C1333666

C1856738

C0265260

C2930970

C3809104

C1862103

C4759728

C1832708

C3554446

Gene Locus

20q11.2

Gene Symbol

GDF5

CDMP1

SYNS2

SYM1B

DUPANS

OS5

BDA1C

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601146.0020

http://purl.bioontology.org/ontology/OMIM/601146.0021

http://purl.bioontology.org/ontology/OMIM/601146.0016

http://purl.bioontology.org/ontology/OMIM/601146.0012

http://purl.bioontology.org/ontology/OMIM/601146.0017

http://purl.bioontology.org/ontology/OMIM/601146.0011

http://purl.bioontology.org/ontology/OMIM/601146.0019

http://purl.bioontology.org/ontology/OMIM/601146.0013

http://purl.bioontology.org/ontology/OMIM/601146.0014

http://purl.bioontology.org/ontology/OMIM/601146.0015

http://purl.bioontology.org/ontology/OMIM/601146.0018

http://purl.bioontology.org/ontology/OMIM/601146.0007

http://purl.bioontology.org/ontology/OMIM/601146.0001

http://purl.bioontology.org/ontology/OMIM/601146.0002

http://purl.bioontology.org/ontology/OMIM/601146.0006

http://purl.bioontology.org/ontology/OMIM/601146.0004

http://purl.bioontology.org/ontology/OMIM/601146.0008

http://purl.bioontology.org/ontology/OMIM/601146.0003

http://purl.bioontology.org/ontology/OMIM/601146.0005

http://purl.bioontology.org/ontology/OMIM/601146.0009

MIMTYPEMEANING

Gene with known sequence

notation

601146

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GROWTH/DIFFERENTIATION FACTOR 5

tui

T047

T033

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/MESH/C537931 MESH CUI
http://purl.bioontology.org/ontology/MESH/C537915 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/389167007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C537093 MESH CUI
http://purl.bioontology.org/ontology/MESH/C537380 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/720569006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C537089 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715474004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/715474004 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/77542002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/77542002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00902 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X78Ar RCD CUI
http://purl.bioontology.org/ontology/MESH/C535658 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/389167007 SCTSPA CUI
http://id.nlm.nih.gov/mesh/D055428 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055428 RH-MESH LOOM
http://purl.jp/bio/4/id/200906069965916080 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26322 NCIT LOOM
http://purl.obolibrary.org/obo/PR_000000281 PR LOOM
http://purl.obolibrary.org/obo/PR_000000281 NIFSTD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00021665 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D055428 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C26322 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0026282 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.644.276.954.300.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MESH_D055428 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_122066 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.529.942.300.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.467.942.300.500 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16114 HRDO LOOM