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autosomal recessive osteopetrosis 1
Summary
- Synonym
-
- OPTB1
- autosomal recessive Albers-Schonberg disease
- infantile malignant osteopetrosis 1
- 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.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110942
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
