loading...| Preferred Name |
nephronophthisis 1 |
|
| Synonyms |
nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis type 1 nephronophthisis 1 juvenile nephronophthisis 1 NPH1 NPHP1 nephronophthisis (disease) NPHP1 familial juvenile nephronophthisis juvenile nephronophthisis nephronophthisis, familial juvenile Nph1 |
|
| Definitions |
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009728 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
|
| database_cross_reference |
MESH:C537699 NCIT:C74998 OMIM:256100 DOID:0111112 ICD10:Q61.5 Orphanet:93592 UMLS:C1855681 SCTID:444830001 UMLS:CN205459 |
|
| disease has basis in dysfunction of | ||
| exactMatch |
http://identifiers.org/mesh/C537699 http://www.orpha.net/ORDO/Orphanet_93592 http://purl.obolibrary.org/obo/DOID_0111112 http://linkedlifedata.com/resource/umls/id/C1855681 http://purl.obolibrary.org/obo/NCIT_C74998 http://identifiers.org/omim/256100 |
|
| has exact synonym |
nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis type 1 nephronophthisis 1 juvenile nephronophthisis 1 NPH1 NPHP1 nephronophthisis (disease) NPHP1 familial juvenile nephronophthisis juvenile nephronophthisis |
|
| has related synonym |
nephronophthisis, familial juvenile Nph1 |
|
| id |
MONDO:0009728 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_clinical_subtype |
|
| label |
nephronophthisis 1 |
|
| notation |
MONDO:0009728 |
|
| prefLabel |
nephronophthisis 1 |
|
| textual definition |
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022409 |