Autosomal Recessive Osteopetrosis 5
Disease ID: disease_node_17391
Connections displayed (default: 10).
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| Dbxref | GARD:4153, MIM:259720 |
|---|---|
| Subclassof | DOID_13533, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPTB5, infantile malignant osteopetrosis 3 |
| Doid Label | autosomal recessive osteopetrosis 5 |
| Doid Description | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17391 |
| Doid Id | DOID_0110939 |
| Label | Autosomal Recessive Osteopetrosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Osteopetrosis(ID:disease_node_5784) (Disease)