Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/C562680 http://purl.bioontology.org/ontology/MESH/C562680
Preferred Name	Cystathionase Deficiency
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Cystathionase Deficiency
TH	OMIM (2013)
notation	C562680
MMR	20131106
MeSH Frequency	6
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
HM	D003542/Q000172 D000592
Inverse of RB	0
Scope Statement	mutation in cystathionine gamma-lyase
MDA	20121105
SC	3
type	http://www.w3.org/2002/07/owl#Class
Mapped to	http://purl.bioontology.org/ontology/MESH/D000592 http://purl.bioontology.org/ontology/MESH/D003542
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
tui	T047
cui	C3495552
TERMUI	T801265

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