Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

type 2 collagenopathy
Synonyms

cartilage collagen

collagen II

COL2A1

disease or disorder caused by mutation in COL2A1

COL2A1 disease or disorder

collagenopathy type 2 alpha 1
Definitions

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

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

NANDO:2201016

Orphanet:93421

MESH:C535964

UMLS:C2931073

MEDGEN:419326

GARD:19186

HGNC:2200
definition

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

http://purl.obolibrary.org/obo/GO_0005585
exactMatch

http://identifiers.org/medgen/419326

http://purl.obolibrary.org/obo/Orphanet_93421

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

http://identifiers.org/mesh/C535964
has_exact_synonym

disease or disorder caused by mutation in COL2A1

COL2A1 disease or disorder

collagenopathy type 2 alpha 1
has_related_synonym

cartilage collagen

collagen II

COL2A1
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
id

MONDO:0022800
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label

type 2 collagenopathy
notation

MONDO:0022800
preferred label

type 2 collagenopathy
prefLabel

type 2 collagenopathy
see also

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

http://purl.obolibrary.org/obo/MONDO_0018230

http://purl.obolibrary.org/obo/MONDO_0023603

http://www.ebi.ac.uk/efo/EFO_0000408

http://purl.obolibrary.org/obo/MONDO_0004603

http://purl.obolibrary.org/obo/MONDO_0002254
excluded_subClassOf

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