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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/105120
http://purl.bioontology.org/ontology/OMIM/105120
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|---|---|
| Preferred Name | AMYLOIDOSIS, FINNISH TYPE |
| Synonyms |
AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY
AMYLOIDOSIS, MERETOJA TYPE
AMYLOIDOSIS V
AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE
AMYLD4
AMYLOIDOSIS DUE TO MUTANT GELSOLIN
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY
AMYLOIDOSIS, MERETOJA TYPE
AMYLOIDOSIS V
AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE
AMYLD4
AMYLOIDOSIS DUE TO MUTANT GELSOLIN
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|---|---|
| prefLabel | AMYLOIDOSIS, FINNISH TYPE
|
| Gene Symbol |
GSN
AMYLD4
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| Scope Statement | Caused by mutation in the gelsolin gene (GSN, 137350.0001) [MOLECULAR BASIS]
Onset in third decade [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 9q34
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 105120
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1622345
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |