Term Name: autosomal recessive osteopetrosis 1
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.
Ontology: Human Disease [DOID:0110942]   ( DOID:0110942 )

Relationships
is a type of: autosomal recessive disease osteopetrosis