spondyloepimetaphyseal dysplasia
MONDO:0100510Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Definition from the Mondo Disease Ontology (MONDO:0100510), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (23)
- COL2A1-related spondyloepiphyseal dysplasia
- spondyloepimetaphyseal dysplasia with joint laxity
- spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
- spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
- spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- spondyloepimetaphyseal dysplasia, aggrecan type
- spondyloepimetaphyseal dysplasia, Bieganski type
- spondyloepimetaphyseal dysplasia, di rocco type
- spondyloepimetaphyseal dysplasia, Genevieve type
- spondyloepimetaphyseal dysplasia, Guo-Campeau type
- spondyloepimetaphyseal dysplasia, Handigodu type
- spondyloepimetaphyseal dysplasia, Irapa type
- spondyloepimetaphyseal dysplasia, Isidor type
- spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- spondyloepimetaphyseal dysplasia, Krakow type
- spondyloepimetaphyseal dysplasia, Li-Shao-Li type
Other names
2 names
Resolves to: spondyloepimetaphyseal dysplasia
- Also called
- SEMDspondylo-epi-(meta)-physeal dysplasia