Autosomal Recessive Alport Syndrome
Disease ID: disease_node_19099
Connections displayed (default: 10).
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| Dbxref | GARD:625, MIM:203780, ORDO:88919 |
|---|---|
| Subclassof | DOID_10983, DOID_0050737 |
| Data Source | DOID |
| Doid Label | autosomal recessive Alport syndrome |
| Doid Description | An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19099 |
| Doid Id | DOID_0110033 |
| Label | Autosomal Recessive Alport Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Nephritis, Hereditary(ID:disease_node_5489) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)