JSON

type 2 collagenopathy

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2201016 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:419326 (MONDO:equivalentTo)
  • HGNC:2200 (GARD:0009246)
  • UMLS:C2931073 (MONDO:equivalentTo)
  • GARD:19186 (MONDO:GARD)
  • MESH:C535964 (MONDO:equivalentTo)
  • Orphanet:93421 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
COL2A1 [ GARD:0009246 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

exactMatch

http://identifiers.org/mesh/C535964

http://linkedlifedata.com/resource/umls/id/C2931073

http://identifiers.org/medgen/419326

http://www.orpha.net/ORDO/Orphanet_93421

excluded subClassOf

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

has related synonym

COL2A1

cartilage collagen

collagen II

id

MONDO:0022800

seeAlso

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

term tracker item

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

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

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