Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_10398 http://www.limics.org/hrdo/rdfns#pat_id_10398
Preferred Name	Glucose-galactose malabsorption
Synonyms	SGLT1 deficiency
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SGLT1 deficiency
prefLabel	Glucose-galactose malabsorption
id_MIM	606824
prevalence	<1 / 1 000 000
inheritance	Autosomal recessive
id_OMS	E74.3
prefixIRI	hrdo:pat_id_10398
id_Orpha	35710
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
id_SNOMEDCT	190749000
patType	disease
id_MedDRA	10066388
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glucose-galactose+malabsorption%5Btitle/abstract%5D
ageOfOnset	Neonatal/infancy

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