autosomal recessive osteopetrosis 7

Findings

No curated finding names autosomal recessive osteopetrosis 7 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

Death in infancy · Infantile onset · Neonatal onset · Death in childhood

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
• immune system disorder

Resolves to: autosomal recessive osteopetrosis 7

Also called

autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemiaautosomal recessive osteopetrosis type 7OPTB7osteopetrosis (disease) caused by mutation in TNFRSF11Aosteopetrosis-hypogammaglobulinemia syndromeosteopetrosis, autosomal recessive type 7TNFRSF11A osteopetrosis (disease)