Preferred Name

COLLAGEN, TYPE I, ALPHA-2

Synonyms

OSTEOGENESIS IMPERFECTA, TYPE III

ID

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

altLabel

OSTEOGENESIS IMPERFECTA, TYPE III

OSTEOGENESIS IMPERFECTA, TYPE IV, WITH DENTINOGENESIS IMPERFECTA

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

OSTEOGENESIS IMPERFECTA, TYPE IV

COL1A2

EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE

OSTEOPOROSIS, POSTMENOPAUSAL

COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2

OSTEOGENESIS IMPERFECTA, TYPE II

OSTEOGENESIS IMPERFECTA, ATYPICAL, WITH JOINT HYPERMOBILITY

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2

OSTEOGENESIS IMPERFECTA, MILD

cui

C4303789

C0268358

C0029458

C1851801

C4310980

C0268363

C4015953

C4310981

C1332773

C5436847

C0268362

Gene Locus

7q22.1

Gene Symbol

EDSARTH2

COL1A2

EDSCV

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

120160

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE I, ALPHA-2

tui

T028

T019

T047

Delete Subject Author Type Created
No notes to display