Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FATAL FAMILIAL INSOMNIA
Synonyms

INSOMNIA, FATAL FAMILIAL
ID

http://purl.bioontology.org/ontology/OMIM/600072
altLabel

INSOMNIA, FATAL FAMILIAL

FFI
cui

C0206042
Gene Locus

20pter-p12
Gene Symbol

PRIP

KURU

CJD

PRNP
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006658

http://purl.bioontology.org/ontology/OMIM/MTHU006664

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU006662

http://purl.bioontology.org/ontology/OMIM/MTHU042433

http://purl.bioontology.org/ontology/OMIM/MTHU006666

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU006661

http://purl.bioontology.org/ontology/OMIM/MTHU004026

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU006665

http://purl.bioontology.org/ontology/OMIM/MTHU006660

http://purl.bioontology.org/ontology/OMIM/MTHU006663

http://purl.bioontology.org/ontology/OMIM/MTHU005439

http://purl.bioontology.org/ontology/OMIM/MTHU006659

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU005895
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

600072
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FATAL FAMILIAL INSOMNIA
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10072077 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/046.72 ICD9CM CUI
http://purl.bioontology.org/ontology/MESH/D034062 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83157008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/DE-3B040 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10072077 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10072077 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/83157008 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011042 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X003N RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/A81.83 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D034062 MSHFRE CUI
http://nanbyodata.jp/ontology/NANDO_1200191 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 EFO LOOM
http://purl.bioontology.org/ontology/ICD9CM/046.72 ICD9CM LOOM
http://purl.obolibrary.org/obo/DOID_0050433 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050433 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050433 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84711 NCIT LOOM
http://identifiers.org/omim/600072 REXO LOOM
http://identifiers.org/omim/600072 GEXO LOOM
http://identifiers.org/omim/600072 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206042 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83157008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_600072 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050433 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C84711 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/DE-3B040 SNMI LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072077 MEDDRA LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12692 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12692 NIFSTD LOOM
http://localhost/plosthes.2017-1#4286 PLOSTHES LOOM
http://www.orpha.net/ORDO/Orphanet_466 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fatal_Familial_Insomnia CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_810 HRDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/A81.83 ICD10CM LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 DOVES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12692 BIRNLEX LOOM