Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Cystathioninuria
Synonyms	Cystathione gamma - lyase deficiency Gamma-cystathionase deficiency Cystathionase deficiency
ID	http://www.limics.org/hrdo/rdfns#pat_id_3365
ageOfDeath	Normal
ageOfOnset	Variable
altLabel	Cystathione gamma - lyase deficiency Gamma-cystathionase deficiency Cystathionase deficiency
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cystathioninuria%5Bti%5D+OR+((Cystathionine%2Furine+OR+Cystathionine+gamma-Lyase)+Amino+Acid+Metabolism,+Inborn+Errors)
id_MeSH	C535408
id_MIM	219500
id_OMS	E72.1
id_Orpha	212
id_SNOMEDCT	13003007 367036006 6885006
id_UMLS	C0220993 C0268616
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3365
prefLabel	Cystathioninuria
prevalence	1-9 / 100 000
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_0009058	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_212	ORDO	LOOM
http://identifiers.org/omim/219500	REXO	LOOM
http://identifiers.org/omim/219500	GEXO	LOOM
http://identifiers.org/omim/219500	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/219500	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_219500	CCO	LOOM
http://purl.obolibrary.org/obo/HP_0003153	HP	LOOM
http://purl.obolibrary.org/obo/HP_0003153	UPHENO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129070	NCIT	LOOM
http://purl.obolibrary.org/obo/MP_0030689	MP	LOOM
http://purl.obolibrary.org/obo/MP_0030689	UPHENO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003875	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/DOID_0090142	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0090142	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0090142	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0090142	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0090142	FNS-H	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/13003007	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008841	OMIM	LOOM
http://purl.bioontology.org/ontology/RCTV2/C304100	RCTV2	LOOM
http://purl.obolibrary.org/obo/NCIT_C129070	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009058	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009058	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009058	DOVES	LOOM