Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Saccharopinuria
Synonyms	Saccharopine dehydrogenase deficiency
ID	http://purl.bioontology.org/ontology/MESH/C537218
altLabel	Saccharopine dehydrogenase deficiency Alpha-aminoadipic semialdehyde synthase deficiency
cui	C2936921
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D020167 D012443/Q000172
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D020167 http://purl.bioontology.org/ontology/MESH/D012443
MDA	20100825
MeSH Frequency	2
MMR	20131106
notation	C537218
prefLabel	Saccharopinuria
SC	3
TERMUI	T741855 T741853 T741854
TH	OMIM (2013) ORD (2010)
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/MTHU041960	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/C3074	RCD	CUI
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://purl.obolibrary.org/obo/MONDO_0010005	DOVES	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/SNOMEDCT/111397004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/268700	OMIM	LOOM
http://purl.bioontology.org/ontology/RCTV2/C307600	RCTV2	LOOM