autosomal recessive osteopetrosis 2

Findings

No curated finding names autosomal recessive osteopetrosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset · Neonatal onset

HPO, annotations 2026-09-02

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, annotations 2026-09-02.

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

A kind of

• autosomal recessive osteopetrosis

Resolves to: autosomal recessive osteopetrosis 2

Also called

autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11autosomal recessive osteopetrosis caused by mutation in TNFSF11autosomal recessive osteopetrosis type 2OPTB2osteopetrosis, autosomal recessive type 2TNFSF11 autosomal recessive malignant osteopetrosisTNFSF11 autosomal recessive osteopetrosisTNFSF11-related osteopetrosis