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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614131
http://purl.bioontology.org/ontology/OMIM/614131
|
|---|---|
| Preferred Name | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 |
| Synonyms |
FSGS6
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FSGS6
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6
|
|---|---|
| prefLabel | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
|
| Gene Symbol |
MYO1C
MYO1E
FSGS6
|
| Scope Statement | Onset in childhood (range 1 to 9 years) [MISCELLANEOUS]
Caused by mutation in the myosin IE gene (MYO1E, 601479.0001) [MOLECULAR BASIS]
Poor or no response to glucocorticoid treatment [MISCELLANEOUS]
Two unrelated families have been reported (as of July 2011) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q21-q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 614131
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3279905
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |