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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C537699
http://purl.bioontology.org/ontology/MESH/C537699
|
|---|---|
| Preferred Name | Nephronophthisis, familial juvenile |
| Synonyms |
Nephronophthisis 1
Juvenile nephronophthisis
Type 1 nephronophthisis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Nephronophthisis 1
Juvenile nephronophthisis
Type 1 nephronophthisis
|
|---|---|
| prefLabel |
Nephronophthisis, familial juvenile
|
| TH |
OMIM (2013)
ORD (2010)
|
| notation |
C537699
|
| MMR |
20150818
|
| MeSH Frequency |
88
|
| Semantic type UMLS property | |
| HM |
D052177/Q000151
|
| Inverse of RB |
0
|
| 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
|
| MDA |
20100825
|
| SC |
3
|
| type | |
| Mapped to | |
| Has mapping qualifier | |
| tui |
T047
|
| cui |
C1855681
|
| TERMUI |
T743459
T743458
T743455
T743454
|
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