Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Acatalasemia
Synonyms	Catalase deficiency
ID	http://www.limics.org/hrdo/rdfns#pat_id_794
ageOfOnset	Variable
altLabel	Catalase deficiency
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acatalasemia%5Bti%5D+OR+acatalasaemia%5Bti%5D+OR+acatalasia%5Bmh%5D
id_MIM	614097
id_OMS	E80.3
id_Orpha	926
id_SNOMEDCT	267454002
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_794
prefLabel	Acatalasemia
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84526	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIM_614097	CCO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acatalasemia	CSEO	LOOM
http://identifiers.org/omim/614097	REXO	LOOM
http://identifiers.org/omim/614097	GEXO	LOOM
http://identifiers.org/omim/614097	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84526	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10086152	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/267454002	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_926	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/614097	OMIM	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15061	DERMLEX	LOOM
http://nanbyodata.jp/ontology/NANDO_1200774	NANDO	LOOM