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Preferred Name

COLLAGEN, TYPE II, ALPHA-1
Synonyms

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
ID

http://purl.bioontology.org/ontology/OMIM/120140
altLabel

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE

AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY, 1

COL2A1

KNIEST DYSPLASIA

COLLAGEN, TYPE II

RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

CHONDROCALCIN

ACHONDROGENESIS, TYPE II

VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA

LEGG-CALVE-PERTHES DISEASE

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE

SPONDYLOPERIPHERAL DYSPLASIA

PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS

CZECH DYSPLASIA

STICKLER SYNDROME, TYPE I

COLLAGEN OF CARTILAGE

OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA

HYPOCHONDROGENESIS

STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
cui

C0796173

C1836683

C1836081

C4225640

C2745959

C0220685

C0542428

C1836080

C0023234

C0265279

C0700635

C1413580

C1852989

C0432214

C2020284

C1835437

C1851536

C4551562
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120140.0021

http://purl.bioontology.org/ontology/OMIM/120140.0011

http://purl.bioontology.org/ontology/OMIM/120140.0041

http://purl.bioontology.org/ontology/OMIM/120140.0010

http://purl.bioontology.org/ontology/OMIM/120140.0050

http://purl.bioontology.org/ontology/OMIM/120140.0042

http://purl.bioontology.org/ontology/OMIM/120140.0022

http://purl.bioontology.org/ontology/OMIM/120140.0002

http://purl.bioontology.org/ontology/OMIM/120140.0023

http://purl.bioontology.org/ontology/OMIM/120140.0003

http://purl.bioontology.org/ontology/OMIM/120140.0054

http://purl.bioontology.org/ontology/OMIM/120140.0056

http://purl.bioontology.org/ontology/OMIM/120140.0030

http://purl.bioontology.org/ontology/OMIM/120140.0015

http://purl.bioontology.org/ontology/OMIM/120140.0017

http://purl.bioontology.org/ontology/OMIM/120140.0036

http://purl.bioontology.org/ontology/OMIM/120140.0055

http://purl.bioontology.org/ontology/OMIM/120140.0016

http://purl.bioontology.org/ontology/OMIM/120140.0043

http://purl.bioontology.org/ontology/OMIM/120140.0028

http://purl.bioontology.org/ontology/OMIM/120140.0008

http://purl.bioontology.org/ontology/OMIM/120140.0024

http://purl.bioontology.org/ontology/OMIM/120140.0035

http://purl.bioontology.org/ontology/OMIM/120140.0004

http://purl.bioontology.org/ontology/OMIM/120140.0037

http://purl.bioontology.org/ontology/OMIM/120140.0048

http://purl.bioontology.org/ontology/OMIM/120140.0051

http://purl.bioontology.org/ontology/OMIM/120140.0049

http://purl.bioontology.org/ontology/OMIM/120140.0029

http://purl.bioontology.org/ontology/OMIM/120140.0009

http://purl.bioontology.org/ontology/OMIM/120140.0001

http://purl.bioontology.org/ontology/OMIM/120140.0031

http://purl.bioontology.org/ontology/OMIM/120140.0052

http://purl.bioontology.org/ontology/OMIM/120140.0012

http://purl.bioontology.org/ontology/OMIM/120140.0053

http://purl.bioontology.org/ontology/OMIM/120140.0040

http://purl.bioontology.org/ontology/OMIM/120140.0020

http://purl.bioontology.org/ontology/OMIM/120140.0033

http://purl.bioontology.org/ontology/OMIM/120140.0013

http://purl.bioontology.org/ontology/OMIM/120140.0032

http://purl.bioontology.org/ontology/OMIM/120140.0034

http://purl.bioontology.org/ontology/OMIM/120140.0014

http://purl.bioontology.org/ontology/OMIM/120140.0044

http://purl.bioontology.org/ontology/OMIM/120140.0046

http://purl.bioontology.org/ontology/OMIM/120140.0026

http://purl.bioontology.org/ontology/OMIM/120140.0047

http://purl.bioontology.org/ontology/OMIM/120140.0045

http://purl.bioontology.org/ontology/OMIM/120140.0025

http://purl.bioontology.org/ontology/OMIM/120140.0027

http://purl.bioontology.org/ontology/OMIM/120140.0007

http://purl.bioontology.org/ontology/OMIM/120140.0005

http://purl.bioontology.org/ontology/OMIM/120140.0018

http://purl.bioontology.org/ontology/OMIM/120140.0039

http://purl.bioontology.org/ontology/OMIM/120140.0038

http://purl.bioontology.org/ontology/OMIM/120140.0019
MIMTYPEMEANING

Gene with known sequence
Moved from

120310
notation

120140
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

COLLAGEN, TYPE II, ALPHA-1
tui

T028

T019

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C535799 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563007 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.7 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C563709 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/M91.3 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bmicc.cn/ontology/ICD10CN/M91.2 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/C563710 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/M91.3 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/C565740 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C565046 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/M91.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.7 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/C563627 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D007873 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0023234 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/ICD10CM/M91.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP19687-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C537501 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535766 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537492 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535788 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C536017 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537207 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/M91.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/C565179 Medical Subject Headings / 医学主题词表 CUI