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loading...| Preferred Name |
Nephronophthisis, familial juvenile |
|
| Synonyms |
Nephronophthisis 1 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537699 |
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| altLabel |
Nephronophthisis 1 Juvenile nephronophthisis Type 1 nephronophthisis |
|
| cui |
C1855681 |
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| Has mapping qualifier | ||
| HM |
D052177/Q000151 |
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| Inverse of RB |
0 |
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| Mapped to | ||
| MDA |
20100825 |
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| MeSH Frequency |
88 |
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| MMR |
20150818 |
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| notation |
C537699 |
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| prefLabel |
Nephronophthisis, familial juvenile |
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| SC |
3 |
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| Scope Statement |
A hereditary, autosomal recessive cystic kidney disease that leads to RENAL FAILURE in childhood or adolescence. It is the most frequent genetic cause of renal failure in children and is characterized by ANEMIA; POLYURIA; POLYDYPSIA, and isosthenuria; extrarenal manifestations may include, LIVER FIBROSIS; SITUS INVERSUS, and cardiac malformations. Mutations in the NPHP1 gene have been identified. OMIM: 256100 |
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| TERMUI |
T743459 T743458 T743455 T743454 |
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| TH |
OMIM (2013) ORD (2010) |
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| tui |
T047 |
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