Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

fatal familial insomnia
Synonyms
Definitions

A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0050433
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D034062

SNOMEDCT_US_2023_03_01:83157008

ICD9CM:046.72

ICD10CM:A81.83

UMLS_CUI:C0206042

GARD:6429

MIM:600072

NCI:C84711
definition

A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
has symptom

http://purl.obolibrary.org/obo/SYMP_0000607
has_obo_namespace

disease_ontology
id

DOID:0050433
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

fatal familial insomnia
notation

DOID:0050433
prefLabel

fatal familial insomnia
subClassOf

http://purl.obolibrary.org/obo/DOID_649
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050433 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050433 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050433 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050433 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050433 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050433 FNS-H SAME_URI
http://purl.bioontology.org/ontology/ICD9CM/046.72 ICD9CM LOOM
http://nanbyodata.jp/ontology/NANDO_1200191 NANDO 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 DDSS 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://purl.bioontology.org/ontology/OMIM/600072 OMIM 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 DOVES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12692 BIRNLEX LOOM