Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Neonatal hemochromatosis
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_504
ageOfOnset	Neonatal/infancy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemochromatosis%5Bmajr%5D+AND+infant,newborn%5Bmh%5D+NOT+%28adult%5Bmh%5D+OR+adolescence%5Bmh%5D%29
id_MeSH	C536394
id_MIM	231100
id_OMS	E83.1
id_Orpha	446
id_SNOMEDCT	6160004
id_UMLS	C0268059
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_504
prefLabel	Neonatal hemochromatosis
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.obolibrary.org/obo/MONDO_0009275	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536394	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0009275	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009275	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009275	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C536394	MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#26255	OCHV	LOOM
http://purl.obolibrary.org/obo/NCIT_C129980	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/6160004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-31214	SNMI	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17706	DERMLEX	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078357	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268059	OCHV	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023490	OMIM	LOOM
http://www.orpha.net/ORDO/Orphanet_446	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129980	NCIT	LOOM