spondyloepiphyseal dysplasia
MONDO:0016761Mondo
Findings
No curated finding names spondyloepiphyseal 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 and the epiphysis.
Definition from the Mondo Disease Ontology (MONDO:0016761), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- RPL13HGNC:10303
- Moderate · Franklin by Genoox · Autosomal dominant · 2020
Where it sits
- A kind of
- Narrower terms (44)
- anauxetic dysplasia
- brachydactylous dwarfism, Mseleni type
- brachyolmia-amelogenesis imperfecta syndrome
- cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- CODAS syndrome
- COL2A1-related spondyloepiphyseal dysplasia
- cono-spondylar dysplasia
- Dyggve-Melchior-Clausen disease
- dyssegmental dysplasia, Rolland-Desbuquois type
- Ehlers-Danlos syndrome, spondylocheirodysplastic type
- even-plus syndrome
- hip dysplasia, Beukes type
- immunoskeletal dysplasia with neurodevelopmental abnormalities
- Marshall syndrome
- metatropic dysplasia
- MGP-related spondyloepiphyseal dysplasia
- MIR140-related spondyloepiphyseal dysplasia
- otospondylomegaepiphyseal dysplasia
- progressive pseudorheumatoid arthropathy of childhood
Other names
1 name
Resolves to: spondyloepiphyseal dysplasia
- Also called
- SED