WormBase Tree Display for DO_term: DOID:0110942
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| DOID:0110942 | Name | autosomal recessive osteopetrosis 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | OPTB1 | |||
| autosomal recessive Albers-Schonberg disease | |||||
| infantile malignant osteopetrosis 1 | |||||
| Parent | Is_a | DOID:13533 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 259700 | |
| Attribute_of | Gene_by_orthology | WBGene00006768 | |||
| WBGene00006914 | |||||
| WBGene00006915 | |||||
| WBGene00006916 |
