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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/607100
http://purl.bioontology.org/ontology/OMIM/607100
|
|---|---|
| Preferred Name | NEPHROCYSTIN 1 |
| Synonyms |
NPH1
JOUBERT SYNDROME 4
SENIOR-LOKEN SYNDROME 1
NPHP1
NEPHRONOPHTHISIS 1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NPH1
JOUBERT SYNDROME 4
SENIOR-LOKEN SYNDROME 1
NPHP1
NEPHRONOPHTHISIS 1
|
|---|---|
| prefLabel |
NEPHROCYSTIN 1
|
| Gene Symbol |
SLSN1
JBTS4
NPH1
NPHP1
|
| notation |
607100
|
| Has allelic variant | |
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
2q13
|
| Phenotype of | |
| tui |
T047
T028
|
| cui |
C1846790
C4551559
C1855681
C1417782
|
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