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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600072
http://purl.bioontology.org/ontology/OMIM/600072
|
|---|---|
| Preferred Name | FATAL FAMILIAL INSOMNIA |
| Synonyms |
INSOMNIA, FATAL FAMILIAL
FFI
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
INSOMNIA, FATAL FAMILIAL
FFI
|
|---|---|
| prefLabel | FATAL FAMILIAL INSOMNIA
|
| Gene Symbol |
PRIP
KURU
CJD
PRNP
|
| Scope Statement | Rapid course [MISCELLANEOUS]
Onset in adulthood [MISCELLANEOUS]
Caused by mutation in the prion protein gene (PRNP, 176640.0010) [MOLECULAR BASIS]
Death within 12 months [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 20pter-p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600072
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0206042
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |