Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

COLLAGEN, TYPE I, ALPHA-1
Synonyms

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1

OSTEOGENESIS IMPERFECTA, TYPE I, MILD

COL1A1

OSTEOGENESIS IMPERFECTA, TYPE IV

OSTEOGENESIS IMPERFECTA, TYPE III/IV

OSTEOGENESIS IMPERFECTA

OSTEOGENESIS IMPERFECTA, TYPE I

OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE

OSTEOGENESIS IMPERFECTA, TYPE II

CAFFEY DISEASE

COL1A1/PDGFB FUSION GENE

OSTEOGENESIS IMPERFECTA, TYPE IIA

COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN

OSTEOGENESIS IMPERFECTA, TYPE IIC

EHLERS-DANLOS SYNDROME, CLASSIC TYPE

BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS

OSTEOGENESIS IMPERFECTA, TYPE III
ID

http://purl.bioontology.org/ontology/OMIM/120150
altLabel

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1

COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1

OSTEOGENESIS IMPERFECTA, TYPE I, MILD

COL1A1

OSTEOGENESIS IMPERFECTA, TYPE IV

OSTEOGENESIS IMPERFECTA, TYPE III/IV

OSTEOGENESIS IMPERFECTA

OSTEOGENESIS IMPERFECTA, TYPE I

OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE

OSTEOGENESIS IMPERFECTA, TYPE II

CAFFEY DISEASE

COL1A1/PDGFB FUSION GENE

OSTEOGENESIS IMPERFECTA, TYPE IIA

COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN

OSTEOGENESIS IMPERFECTA, TYPE IIC

EHLERS-DANLOS SYNDROME, CLASSIC TYPE

BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS

OSTEOGENESIS IMPERFECTA, TYPE III
cui

C4551623

C1332772

C1861000

C4015950

C4015949

C4015948

C0029434

C0020497

C4015951

C0268362

C5436842

C4225429

C4015952

C0268363

C0268358

C0023931
Gene Locus

17q21.31-q22
Gene Symbol

OI2

COL1A1

OI4

OI1

OI3

EDSARTH1

CAFYD
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120150.0019

http://purl.bioontology.org/ontology/OMIM/120150.0018

http://purl.bioontology.org/ontology/OMIM/120150.0010

http://purl.bioontology.org/ontology/OMIM/120150.0016

http://purl.bioontology.org/ontology/OMIM/120150.0011

http://purl.bioontology.org/ontology/OMIM/120150.0012

http://purl.bioontology.org/ontology/OMIM/120150.0013

http://purl.bioontology.org/ontology/OMIM/120150.0014

http://purl.bioontology.org/ontology/OMIM/120150.0015

http://purl.bioontology.org/ontology/OMIM/120150.0017

http://purl.bioontology.org/ontology/OMIM/120150.0046

http://purl.bioontology.org/ontology/OMIM/120150.0042

http://purl.bioontology.org/ontology/OMIM/120150.0040

http://purl.bioontology.org/ontology/OMIM/120150.0044

http://purl.bioontology.org/ontology/OMIM/120150.0045

http://purl.bioontology.org/ontology/OMIM/120150.0047

http://purl.bioontology.org/ontology/OMIM/120150.0043

http://purl.bioontology.org/ontology/OMIM/120150.0048

http://purl.bioontology.org/ontology/OMIM/120150.0041

http://purl.bioontology.org/ontology/OMIM/120150.0049

http://purl.bioontology.org/ontology/OMIM/120150.0023

http://purl.bioontology.org/ontology/OMIM/120150.0028

http://purl.bioontology.org/ontology/OMIM/120150.0025

http://purl.bioontology.org/ontology/OMIM/120150.0020

http://purl.bioontology.org/ontology/OMIM/120150.0029

http://purl.bioontology.org/ontology/OMIM/120150.0022

http://purl.bioontology.org/ontology/OMIM/120150.0026

http://purl.bioontology.org/ontology/OMIM/120150.0024

http://purl.bioontology.org/ontology/OMIM/120150.0035

http://purl.bioontology.org/ontology/OMIM/120150.0033

http://purl.bioontology.org/ontology/OMIM/120150.0036

http://purl.bioontology.org/ontology/OMIM/120150.0039

http://purl.bioontology.org/ontology/OMIM/120150.0038

http://purl.bioontology.org/ontology/OMIM/120150.0031

http://purl.bioontology.org/ontology/OMIM/120150.0030

http://purl.bioontology.org/ontology/OMIM/120150.0032

http://purl.bioontology.org/ontology/OMIM/120150.0037

http://purl.bioontology.org/ontology/OMIM/120150.0034

http://purl.bioontology.org/ontology/OMIM/120150.0051

http://purl.bioontology.org/ontology/OMIM/120150.0059

http://purl.bioontology.org/ontology/OMIM/120150.0055

http://purl.bioontology.org/ontology/OMIM/120150.0053

http://purl.bioontology.org/ontology/OMIM/120150.0058

http://purl.bioontology.org/ontology/OMIM/120150.0050

http://purl.bioontology.org/ontology/OMIM/120150.0056

http://purl.bioontology.org/ontology/OMIM/120150.0057

http://purl.bioontology.org/ontology/OMIM/120150.0052

http://purl.bioontology.org/ontology/OMIM/120150.0054

http://purl.bioontology.org/ontology/OMIM/120150.0070

http://purl.bioontology.org/ontology/OMIM/120150.0073

http://purl.bioontology.org/ontology/OMIM/120150.0071

http://purl.bioontology.org/ontology/OMIM/120150.0072

http://purl.bioontology.org/ontology/OMIM/120150.0068

http://purl.bioontology.org/ontology/OMIM/120150.0063

http://purl.bioontology.org/ontology/OMIM/120150.0066

http://purl.bioontology.org/ontology/OMIM/120150.0069

http://purl.bioontology.org/ontology/OMIM/120150.0065

http://purl.bioontology.org/ontology/OMIM/120150.0061

http://purl.bioontology.org/ontology/OMIM/120150.0062

http://purl.bioontology.org/ontology/OMIM/120150.0067

http://purl.bioontology.org/ontology/OMIM/120150.0060

http://purl.bioontology.org/ontology/OMIM/120150.0064

http://purl.bioontology.org/ontology/OMIM/120150.0008

http://purl.bioontology.org/ontology/OMIM/120150.0003

http://purl.bioontology.org/ontology/OMIM/120150.0009

http://purl.bioontology.org/ontology/OMIM/120150.0005

http://purl.bioontology.org/ontology/OMIM/120150.0007

http://purl.bioontology.org/ontology/OMIM/120150.0001

http://purl.bioontology.org/ontology/OMIM/120150.0006

http://purl.bioontology.org/ontology/OMIM/120150.0002

http://purl.bioontology.org/ontology/OMIM/120150.0004
MIMTYPEMEANING

Gene with known sequence
notation

120150
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

COLLAGEN, TYPE I, ALPHA-1
tui

T047

T033

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C562625 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1197018005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D006958 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/385483009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715318006 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/SNOMEDCT/385482004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1197018005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D6-90500 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1849-7175 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10031243 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/XE1MD RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/78314001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/78314001 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002250 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10006371 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10006371 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/756.51 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10031243 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10006371 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q78.0 ICD10 CUI
http://purl.bioontology.org/ontology/ICPC2P/L82018 ICPC2P CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10031243 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D010013 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10073206 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10073208 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10073206 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073208 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/M89.8 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24752008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D006958 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001601 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D1-61140 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/24752008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073208 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG57. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10073206 MEDDRA 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/715318006 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q79.61 ICD10CM 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://purl.bioontology.org/ontology/SCTSPA/385482004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-90510 SNMI CUI
http://purl.bioontology.org/ontology/RCD/PG513 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D010013 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D010013 MESH CUI
http://www.limics.org/hrdo/rdfns#gen_id_15767 HRDO LOOM