Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
Jump to:
loading...
Preferred Name

Fatal familial insomnia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_810
ageOfOnset

Adulthood
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=insomnia%2C+fatal+familial%5Bmh%5D+OR+fatal+familial+insomnia%5Bti%5D+OR+fatal+insomnia%5Bti%5D
id_MeSH

D034062
id_MIM

600072
id_OMS

A81.8
id_Orpha

466
id_SNOMEDCT

83157008
id_UMLS

C0206042
inheritance

Autosomal dominant

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_810
prefLabel

Fatal familial insomnia
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010808 MONDO LOOM
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 DOID 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://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 DOVES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12692 BIRNLEX LOOM