| Metadata | |
|---|---|
| ID | DOID:0110942 |
| Name | autosomal recessive 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. https://www.ncbi.nlm.nih.gov/pubmed/10888887 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive Albers-Schonberg disease [EXACT] infantile malignant osteopetrosis 1 [EXACT] OPTB1 [EXACT] |
| Parent Relationships |
is_a osteopetrosis |