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 1, juvenile 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 |
|
| database_cross_reference |
MESH:C537699 GARD:18645 NCIT:C74998 OMIM:256100 DOID:0111112 Orphanet:93592 UMLS:C1855681 SCTID:444830001 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/mesh/C537699 http://purl.obolibrary.org/obo/DOID_0111112 http://linkedlifedata.com/resource/umls/id/C1855681 http://purl.obolibrary.org/obo/NCIT_C74998 |
|
| has material basis in germline mutation in | ||
| 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 nephronophthisis 1, juvenile |
|
| has_related_synonym |
nephronophthisis, familial juvenile Nph1 |
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| IAO_0000233 | ||
| id |
MONDO:0009728 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
nephronophthisis 1 |
|
| notation |
MONDO:0009728 |
|
| prefLabel |
nephronophthisis 1 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0005308 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005308 |