Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hereditary cerebral hemorrhage with amyloidosis
Synonyms	HCHWA
ID	http://www.limics.org/hrdo/rdfns#pat_id_11725
ageOfDeath	Adult
ageOfOnset	Adulthood
altLabel	HCHWA
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Cerebral+hemorrhage+(amyloidosis+amyloid*%5Bti%5D)+OR+Cerebral+Amyloid+Angiopathy)+(familial+OR+hereditary)
id_MIM	105150 605714
id_OMS	E85.4+ I68.0*
id_Orpha	85458
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_11725
prefLabel	Hereditary cerebral hemorrhage with amyloidosis
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/724357007	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_85458	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_85458	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_85458	EFO	LOOM