Nephronophthisis
Disease ID: disease_node_19859
Connections displayed (default: 10).
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| Dbxref | GARD:206, ICD10CM:Q61.5, MIM:PS256100, NCI:C123200, ORDO:655, SNOMEDCT_US_2023_03_01:204958008, UMLS_CUI:C0687120 |
|---|---|
| Subclassof | DOID_557, DOID_0050737 |
| Data Source | DOID |
| Synonyms | medullary cystic disease, medullary cystic kidney |
| Doid Label | nephronophthisis |
| Doid Description | A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19859 |
| Doid Id | DOID_12712 |
| Label | Nephronophthisis |
- Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 11(ID:disease_node_19869) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 16(ID:disease_node_19863) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 20(ID:disease_node_19860) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis-Like Nephropathy 1(ID:disease_node_19870) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 15(ID:disease_node_19864) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 19(ID:disease_node_19861) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 1(ID:disease_node_19871) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Kidney Diseases(ID:disease_node_4481) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 18(ID:disease_node_19862) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 12(ID:disease_node_19868) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 9(ID:disease_node_19867) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 13(ID:disease_node_19866) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Nephronophthisis 14(ID:disease_node_19865) (Disease)