type 2 collagenopathy
MONDO:0022800Mondo
Findings
No curated finding names type 2 collagenopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0022800), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (14)
- achondrogenesis type II
- dysplasia of the proximal femoral epiphyses
- hypochondrogenesis
- Kniest dysplasia
- multiple epiphyseal dysplasia, Beighton type
- platyspondylic dysplasia, Torrance type
- spondyloepimetaphyseal dysplasia, Strudwick type
- spondyloepiphyseal dysplasia congenita
- spondyloepiphyseal dysplasia with metatarsal shortening
- spondyloepiphyseal dysplasia, Stanescu type
- spondylometaphyseal dysplasia, 'corner fracture' type
- spondylometaphyseal dysplasia, Schmidt type
- spondyloperipheral dysplasia
- Stickler syndrome type 1
Other names
3 names
Resolves to: type 2 collagenopathy
- Also called
- COL2A1 disease or disordercollagenopathy type 2 alpha 1disease or disorder caused by mutation in COL2A1