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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614196
http://purl.bioontology.org/ontology/OMIM/614196
|
|---|---|
| Preferred Name | NEPHROTIC SYNDROME, TYPE 6 |
| Synonyms |
NPHS6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NPHS6
|
|---|---|
| prefLabel | NEPHROTIC SYNDROME, TYPE 6
|
| Gene Symbol |
PTPRO
NPHS6
GLEPP1
|
| Scope Statement | Two consanguineous Turkish families have been reported (as of August 2011) [MISCELLANEOUS]
Variable response to steroid treatment [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
End-stage renal failure may occur [MISCELLANEOUS]
Caused by mutation in the protein-tyrosine phosphatase, receptor-type, O gene (PTPRO, 600579.0001) [MOLECULAR BASIS]
Onset in first decade [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12p13-p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614196
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280100
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |