Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

COLLAGEN, TYPE I, ALPHA-2
Synonyms

OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA

COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN

OSTEOGENESIS IMPERFECTA, TYPE IV

COL1A2

OSTEOGENESIS IMPERFECTA, ATYPICAL, WITH JOINT HYPERMOBILITY

OSTEOGENESIS IMPERFECTA, MILD

COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2

OSTEOGENESIS IMPERFECTA, TYPE II

EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE

OSTEOPOROSIS, POSTMENOPAUSAL

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2

OSTEOGENESIS IMPERFECTA, TYPE III
ID

http://purl.bioontology.org/ontology/OMIM/120160
altLabel

OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA

COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN

OSTEOGENESIS IMPERFECTA, TYPE IV

COL1A2

OSTEOGENESIS IMPERFECTA, ATYPICAL, WITH JOINT HYPERMOBILITY

OSTEOGENESIS IMPERFECTA, MILD

COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2

OSTEOGENESIS IMPERFECTA, TYPE II

EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE

OSTEOPOROSIS, POSTMENOPAUSAL

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2

OSTEOGENESIS IMPERFECTA, TYPE III
cui

C4015953

C4310980

C1851801

C0029458

C1332773

C0268362

C4303789

C5436847

C0268363

C0268358

C4310981
Gene Locus

7q22.1
Gene Symbol

EDSCV

EDSARTH2

COL1A2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120160.0057

http://purl.bioontology.org/ontology/OMIM/120160.0056

http://purl.bioontology.org/ontology/OMIM/120160.0055

http://purl.bioontology.org/ontology/OMIM/120160.0050

http://purl.bioontology.org/ontology/OMIM/120160.0052

http://purl.bioontology.org/ontology/OMIM/120160.0051

http://purl.bioontology.org/ontology/OMIM/120160.0053

http://purl.bioontology.org/ontology/OMIM/120160.0054

http://purl.bioontology.org/ontology/OMIM/120160.0040

http://purl.bioontology.org/ontology/OMIM/120160.0044

http://purl.bioontology.org/ontology/OMIM/120160.0043

http://purl.bioontology.org/ontology/OMIM/120160.0049

http://purl.bioontology.org/ontology/OMIM/120160.0042

http://purl.bioontology.org/ontology/OMIM/120160.0045

http://purl.bioontology.org/ontology/OMIM/120160.0041

http://purl.bioontology.org/ontology/OMIM/120160.0048

http://purl.bioontology.org/ontology/OMIM/120160.0046

http://purl.bioontology.org/ontology/OMIM/120160.0047

http://purl.bioontology.org/ontology/OMIM/120160.0037

http://purl.bioontology.org/ontology/OMIM/120160.0033

http://purl.bioontology.org/ontology/OMIM/120160.0031

http://purl.bioontology.org/ontology/OMIM/120160.0039

http://purl.bioontology.org/ontology/OMIM/120160.0036

http://purl.bioontology.org/ontology/OMIM/120160.0034

http://purl.bioontology.org/ontology/OMIM/120160.0038

http://purl.bioontology.org/ontology/OMIM/120160.0035

http://purl.bioontology.org/ontology/OMIM/120160.0032

http://purl.bioontology.org/ontology/OMIM/120160.0030

http://purl.bioontology.org/ontology/OMIM/120160.0019

http://purl.bioontology.org/ontology/OMIM/120160.0015

http://purl.bioontology.org/ontology/OMIM/120160.0018

http://purl.bioontology.org/ontology/OMIM/120160.0013

http://purl.bioontology.org/ontology/OMIM/120160.0016

http://purl.bioontology.org/ontology/OMIM/120160.0017

http://purl.bioontology.org/ontology/OMIM/120160.0010

http://purl.bioontology.org/ontology/OMIM/120160.0014

http://purl.bioontology.org/ontology/OMIM/120160.0011

http://purl.bioontology.org/ontology/OMIM/120160.0020

http://purl.bioontology.org/ontology/OMIM/120160.0029

http://purl.bioontology.org/ontology/OMIM/120160.0022

http://purl.bioontology.org/ontology/OMIM/120160.0021

http://purl.bioontology.org/ontology/OMIM/120160.0027

http://purl.bioontology.org/ontology/OMIM/120160.0025

http://purl.bioontology.org/ontology/OMIM/120160.0023

http://purl.bioontology.org/ontology/OMIM/120160.0026

http://purl.bioontology.org/ontology/OMIM/120160.0006

http://purl.bioontology.org/ontology/OMIM/120160.0004

http://purl.bioontology.org/ontology/OMIM/120160.0007

http://purl.bioontology.org/ontology/OMIM/120160.0002

http://purl.bioontology.org/ontology/OMIM/120160.0005

http://purl.bioontology.org/ontology/OMIM/120160.0001

http://purl.bioontology.org/ontology/OMIM/120160.0003

http://purl.bioontology.org/ontology/OMIM/120160.0008

http://purl.bioontology.org/ontology/OMIM/120160.0009
MIMTYPEMEANING

Gene with known sequence
notation

120160
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

COLLAGEN, TYPE I, ALPHA-2
tui

T047

T019

T028
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565061 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/385483009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/720858001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205497004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/7134007 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/N3302 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32369003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/102447009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/32369003 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1138-6350 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D1-61515 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/M81.0 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10031285 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D015663 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D1-61514 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D015663 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10031285 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10031285 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/2715-1636 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003303 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/102447009 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/385483009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PG515 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-90530 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C536044 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/720858001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C000631847 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-90540 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/205497004 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PG516 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7134007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X78BA RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/254110009 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/205496008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205496008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90520 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PG514 RCD CUI
http://purl.bioontology.org/ontology/MESH/C536042 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-90522 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254110009 SNOMEDCT CUI
http://www.limics.org/hrdo/rdfns#gen_id_15768 HRDO LOOM