bone disorder
MONDO:0005381Mondo
Findings
No curated finding names bone disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
- NPR2HGNC:7944
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (27)
- ACAN-related short stature spectrum
- ainhum
- autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Baastrup syndrome
- bone development disease
- bone inflammation disease
- bone neoplasm
- bone remodeling disease
- cervical rib disease
- coxoauricular syndrome
- disease of bone structure
- Duane anomaly-myopathy-scoliosis syndrome
- GM1 gangliosidosis
- metabolic bone disorder
- metachondromatosis
- mixed sclerosing bone dystrophy with extra-skeletal manifestations
- mucopolysaccharidosis type 1
- mucopolysaccharidosis type 3
- mucopolysaccharidosis type 9
- mueller-weiss syndrome
- osteonecrosis
Other names
5 names
Resolves to: bone disorder
- Also called
- bone element diseasebone element disease or disorderdisease of bone elementdisease or disorder of bone elementdisorder of bone element