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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616208
http://purl.bioontology.org/ontology/OMIM/616208
|
|---|---|
| Preferred Name | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9 |
| Synonyms |
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
FTDALS9
ALS22
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
FTDALS9
ALS22
|
|---|---|
| prefLabel | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9
|
| Gene Symbol |
TUBA1
FTDALS9
TUBA4A
CMYO26
SPAX11
OZEMA23
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|
| Scope Statement | Caused by mutation in the alpha-4A tubulin gene (TUBA4A, 191110.0001) [MOLECULAR BASIS]
Adult onset [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 2q35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616208
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4015512
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |