Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Familial amyloid polyneuropathy
Synonyms	TTR amyloid neuropathy Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy
ID	http://www.limics.org/hrdo/rdfns#pat_id_11720
ageOfDeath	Adult
ageOfOnset	Adulthood
altLabel	TTR amyloid neuropathy Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Amyloid+polyneuropathy+familial
id_MIM	105210
id_OMS	E85.1
id_Orpha	85447
id_SNOMEDCT	42295001
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_11720
prefLabel	Familial amyloid polyneuropathy
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://nanbyodata.jp/ontology/NANDO_1200214	NANDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/42295001	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DERMO_0002660	DERMO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057949	MEDDRA	LOOM
http://purl.jp/bio/4/id/200906007262161235	IOBC	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18197	DERMLEX	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206245	OCHV	LOOM