loading...| Preferred Name |
SENIOR-LOKEN SYNDROME 1 |
|
| Synonyms |
LOKEN-SENIOR SYNDROME SLSN1 JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS SENIOR-LOKEN SYNDROME RENAL DYSPLASIA AND RETINAL APLASIA RENAL-RETINAL SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/266900 |
|
| altLabel |
LOKEN-SENIOR SYNDROME SLSN1 JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS SENIOR-LOKEN SYNDROME RENAL DYSPLASIA AND RETINAL APLASIA RENAL-RETINAL SYNDROME |
|
| cui |
C4551559 C0403553 |
|
| Gene Locus |
2q13 |
|
| Gene Symbol |
SLSN1 JBTS4 NPH1 NPHP1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023006 http://purl.bioontology.org/ontology/OMIM/MTHU003378 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU012049 http://purl.bioontology.org/ontology/OMIM/MTHU004731 http://purl.bioontology.org/ontology/OMIM/MTHU037363 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
266900 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SENIOR-LOKEN SYNDROME 1 |
|
| Scope Statement |
Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the nephrocystin gene (NPHP1, 607100.0005) [MOLECULAR BASIS] |
|
| tui |
T047 |