Autosomal Recessive Osteopetrosis 8
Disease ID: disease_node_17390
Connections displayed (default: 10).
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| Dbxref | MIM:615085 |
|---|---|
| Subclassof | DOID_13533, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPTB8 |
| Doid Label | autosomal recessive osteopetrosis 8 |
| Doid Description | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17390 |
| Doid Id | DOID_0110940 |
| Label | Autosomal Recessive Osteopetrosis 8 |
- 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)