disease has basis in dysfunction of collagen type II trimer disease syndromic disease collagenopathy skeletal dysplasia type 2 collagenopathy https://github.com/monarch-initiative/mondo/issues/3574 https://github.com/monarch-initiative/mondo/issues/3698 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 https://www.malacards.org/card/type_2_collagen_related_bone_disorder MEDGEN:419326 GARD:0019186 MONDO:0022800 HGNC:2200 Orphanet:93421 disease or disorder caused by mutation in COL2A1 COL2A1 Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. UMLS:C2931073 NANDO:2201016 COL2A1 disease or disorder cartilage collagen collagen II MESH:C535964 collagenopathy type 2 alpha 1 hereditary disorder of connective tissue