Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Cystathionase Deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/MESH/C562680
cui	C3495552
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D003542/Q000172 D000592
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000592 http://purl.bioontology.org/ontology/MESH/D003542
MDA	20121105
MeSH Frequency	6
MMR	20131106
notation	C562680
prefLabel	Cystathionase Deficiency
SC	3
Scope Statement	mutation in cystathionine gamma-lyase
TERMUI	T801265
TH	OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/219500	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/1849-0342	CRISP	CUI
http://purl.bioontology.org/ontology/CSP/4001-0049	CRISP	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562680	RH-MESH	LOOM