osteopetrosis
Findings
No curated finding names osteopetrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
Definition from the Mondo Disease Ontology (MONDO:0017198), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Increased bone mineral densityMondoHP:0011001
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
- Narrower terms (11)
- anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- autosomal dominant osteopetrosis
- autosomal recessive osteopetrosis
- dysosteosclerosis
- early-onset calcifying leukoencephalopathy-skeletal dysplasia
- infantile osteopetrosis with neuroaxonal dysplasia
- melorheostosis
- osteomesopyknosis
- osteopathia striata with cranial sclerosis
- osteosclerotic metaphyseal dysplasia
- pycnodysostosis
Other names
4 names
Resolves to: osteopetrosis
- Also called
- Albers-Schonberg diseasemarble bone diseasemarble bonesosteopetrosis (disease)