Autosomal Recessive Osteopetrosis 7
Disease ID: disease_node_17384
Connections displayed (default: 10).
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| Dbxref | GARD:10106, ICD10CM:Q78.2, MIM:612301, ORDO:178389 |
|---|---|
| Subclassof | DOID_13533, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPTB7, autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7, osteoclast-poor osteopetrosis with hypogammaglobulinemia, osteopetrosis-hypogammaglobulinemia syndrome |
| Doid Label | autosomal recessive osteopetrosis 7 |
| Doid Description | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17384 |
| Doid Id | DOID_0110946 |
| Label | Autosomal Recessive Osteopetrosis 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Osteopetrosis(ID:disease_node_5784) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)