WormBase Tree Display for DO_term: DOID:0110944
expand all nodes | collapse all nodes | view schema
| DOID:0110944 | Name | autosomal recessive osteopetrosis 4 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. | ||||
| Synonym | Exact | OPTB4 | |||
| infantile malignant osteopetrosis 2 | |||||
| Parent | Is_a | DOID:13533 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 611490 | |
| Attribute_of | Gene_by_orthology | WBGene00000533 |
