loading...| Preferred Name |
NEPHRONOPHTHISIS 1 |
|
| Synonyms |
NPH1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/256100 |
|
| altLabel |
NPH1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE NPHP1 |
|
| cui |
C1855681 |
|
| Gene Locus |
2q13 |
|
| Gene Symbol |
SLSN1 JBTS4 NPH1 NPHP1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003378 http://purl.bioontology.org/ontology/OMIM/MTHU020619 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU004731 http://purl.bioontology.org/ontology/OMIM/MTHU004727 http://purl.bioontology.org/ontology/OMIM/MTHU037363 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU020623 http://purl.bioontology.org/ontology/OMIM/MTHU020618 http://purl.bioontology.org/ontology/OMIM/MTHU020617 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
256100 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEPHRONOPHTHISIS 1 |
|
| Scope Statement |
Caused by mutation in the nephrocystin 1 gene (NPHP1, 607100.0001) [MOLECULAR BASIS] Medial onset of end stage renal disease 13 years [MISCELLANEOUS] Allelic to Senior-Loken syndrome 1 (266900) and Joubert syndrome 4 (609583) [MISCELLANEOUS] |
|
| tui |
T047 |