dysostosis
MONDO:0018234Mondo
Findings
No curated finding names dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.
Definition from the Mondo Disease Ontology (MONDO:0018234), 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.
- BMP5HGNC:1072
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (108)
- absence deformity of leg-cataract syndrome
- absent radius-anogenital anomalies syndrome
- absent tibia-polydactyly-arachnoid cyst syndrome
- acromesomelic dysplasia 2B
- adactylia, unilateral
- Adams-Oliver syndrome
- ADULT syndrome
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- aphalangy-syndactyly-microcephaly syndrome
- autosomal recessive amelia
- brachydactyly-arterial hypertension syndrome
- brachytelephalangy-dysmorphism-Kallmann syndrome
- camptodactyly syndrome, Guadalajara type 2
- camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
- camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
- congenital pseudoarthrosis of clavicle