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Online Mendelian Inheritance in Man
| Preferred Name | AMYLOIDOSIS, FINNISH TYPE | |
| Synonyms |
CDL2 AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY AMYLOIDOSIS, MERETOJA TYPE AMYLOIDOSIS V LATTICE CORNEAL DYSTROPHY, TYPE II AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED CORNEAL DYSTROPHY, LATTICE TYPE II LCD2 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/105120 |
|
| altLabel |
CDL2 AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY AMYLOIDOSIS, MERETOJA TYPE AMYLOIDOSIS V LATTICE CORNEAL DYSTROPHY, TYPE II AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED CORNEAL DYSTROPHY, LATTICE TYPE II LCD2
|
|
| cui |
C1622345 C0936273 C2751493
|
|
| Gene Locus |
9q34
|
|
| Gene Symbol |
GSN
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006920 http://purl.bioontology.org/ontology/OMIM/MTHU003535 http://purl.bioontology.org/ontology/OMIM/MTHU077384 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU030852 http://purl.bioontology.org/ontology/OMIM/MTHU013793 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU077385 http://purl.bioontology.org/ontology/OMIM/MTHU077386 http://purl.bioontology.org/ontology/OMIM/MTHU036631 http://purl.bioontology.org/ontology/OMIM/MTHU027729 http://purl.bioontology.org/ontology/OMIM/MTHU077387 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
105120
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
AMYLOIDOSIS, FINNISH TYPE
|
|
| Scope Statement |
Caused by mutation in the gelsolin gene (GSN, 137350.0001) [MOLECULAR BASIS] Onset in third decade [MISCELLANEOUS]
|
|
| tui |
T047
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |