Preferred Name | NEPHROCYSTIN 1 | |
Synonyms |
NPH1 JOUBERT SYNDROME 4 SENIOR-LOKEN SYNDROME 1 NPHP1 NEPHRONOPHTHISIS 1 |
|
ID |
http://purl.bioontology.org/ontology/OMIM/607100 |
|
altLabel |
NPH1 JOUBERT SYNDROME 4 SENIOR-LOKEN SYNDROME 1 NPHP1 NEPHRONOPHTHISIS 1 |
|
cui |
C1846790 C4551559 C1855681 C1417782 |
|
Gene Locus |
2q13 |
|
Gene Symbol |
SLSN1 JBTS4 NPH1 NPHP1 |
|
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/607100.0005 http://purl.bioontology.org/ontology/OMIM/607100.0002 http://purl.bioontology.org/ontology/OMIM/607100.0001 |
|
MIMTYPEMEANING |
Gene with known sequence |
|
notation |
607100 |
|
OMIM Entry Type |
1 |
|
OMIM MimType Value |
star |
|
prefLabel |
NEPHROCYSTIN 1 |
|
tui |
T047 T028 |
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