JSON

type 2 collagenopathy

^ http://purl.obolibrary.org/obo/MONDO_0022800

Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • UMLS:C2931073 (MONDO:equivalentTo)
  • MESH:C535964 (MONDO:equivalentTo)
  • GARD:0009246 (MONDO:equivalentTo)
  • HGNC:2200 (GARD:0009246)
  • Orphanet:93421 (MONDO:equivalentTo)
  • UMLS:CN227672 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
COL2A1 [ GARD:0009246 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3698, https://github.com/monarch-initiative/mondo/issues/3574, https://github.com/monarch-initiative/mondo/issues/4948

definition

Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.

exactMatch

http://identifiers.org/mesh/C535964, http://linkedlifedata.com/resource/umls/id/CN227672, http://linkedlifedata.com/resource/umls/id/C2931073, http://purl.obolibrary.org/obo/Orphanet_93421

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005381

has exact synonym

collagenopathy type 2 alpha 1, COL2A1 disease or disorder, disease or disorder caused by mutation in COL2A1

has related synonym

COL2A1, cartilage collagen, collagen II

id

MONDO:0022800

seeAlso

https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1