Autosomal Recessive Osteopetrosis 4
Disease ID: disease_node_17386
Connections displayed (default: 10).
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| Dbxref | GARD:5993, MIM:611490 |
|---|---|
| Subclassof | DOID_13533, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPTB4, infantile malignant osteopetrosis 2 |
| Doid Label | autosomal recessive osteopetrosis 4 |
| Doid Description | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17386 |
| Doid Id | DOID_0110944 |
| Label | Autosomal Recessive Osteopetrosis 4 |
- 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)