osteochondrodysplasia
MONDO:0005516Mondo
Findings
No curated finding names osteochondrodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
Definition from the Mondo Disease Ontology (MONDO:0005516), 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.
- GNPNAT1HGNC:19980
- Limited · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
- Narrower terms (49)
- acheiropody
- achondrogenesis
- achondroplasia
- acrocapitofemoral dysplasia
- acromesomelic dysplasia
- arterial tortuosity-bone fragility syndrome
- atelosteogenesis
- Blount disease
- bone dysplasia, lethal Holmgren type
- Boomerang dysplasia
- brachyolmia
- campomelic dysplasia
- cleidocranial dysplasia 1
- cleidocranial dysplasia 2
- cleidocranial dysplasia, recessive form
- Desbuquois dysplasia
- diastrophic dysplasia
- Fairbank disease
- fibrochondrogenesis
- hypertrichotic osteochondrodysplasia Cantu type
- hypochondroplasia
- Kashin-Beck disease
Other names
1 name
Resolves to: osteochondrodysplasia
- Also called
- congenital skeletal dysplasia