autosomal recessive osteopetrosis 1

Term ID

DOID:0110942

Synonyms

• autosomal recessive Albers-Schonberg disease
• infantile malignant osteopetrosis 1
• OPTB1

Definition

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. https://www.ncbi.nlm.nih.gov/pubmed/10888887

References

• GARD:2579
• MIM:259700

Ontology

Human Disease   ( DOID:0110942 )