Nephronophthisis 1
Disease ID: disease_node_19871
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| Dbxref | MIM:256100 |
|---|---|
| Subclassof | DOID_12712 |
| Data Source | DOID |
| Synonyms | NPH1, NPHP1, juvenile nephronophthisis 1 |
| Doid Label | nephronophthisis 1 |
| Doid Description | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. |
| Disease Node Id | disease_node_19871 |
| Doid Id | DOID_0111112 |
| Label | Nephronophthisis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Nephronophthisis(ID:disease_node_19859) (Disease)