Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	saccharopinuria
Synonyms	hyperlysinemia type II saccharopine dehydrogenase deficiency saccharopinuria Alpha-aminoadipic semialdehyde synthase deficiency hyperlysinemia, type 2
Definitions	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
ID	http://purl.obolibrary.org/obo/MONDO_0010005
has_exact_synonym	hyperlysinemia type II saccharopine dehydrogenase deficiency saccharopinuria
has_related_synonym	Alpha-aminoadipic semialdehyde synthase deficiency hyperlysinemia, type 2
label	saccharopinuria
prefixIRI	MONDO:0010005
prefLabel	saccharopinuria
textual definition	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017351

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0010005	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010005	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010005	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010005	EFO	LOOM
http://purl.obolibrary.org/obo/HP_0034028	HP	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3354	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_3124	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537218	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906075938141955	IOBC	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A6150	SNMI	LOOM
http://purl.obolibrary.org/obo/HP_0034028	HP	LOOM
http://purl.obolibrary.org/obo/HP_0034028	UPHENO	LOOM
http://purl.bioontology.org/ontology/MESH/C537218	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111397004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/268700	OMIM	LOOM
http://purl.bioontology.org/ontology/RCTV2/C307600	RCTV2	LOOM