Online Mendelian Inheritance in Man - CYSTATHIONINE GAMMA-LYASE - Classes

Preferred Name	CYSTATHIONINE GAMMA-LYASE
Synonyms	HOMOCYSTEINE, TOTAL PLASMA, ELEVATED
ID	http://purl.bioontology.org/ontology/OMIM/607657
altLabel	HOMOCYSTEINE, TOTAL PLASMA, ELEVATED CTH CYSTATHIONASE CYSTATHIONINURIA
cui	C4017108 C1413792 C0220993
Gene Locus	1p31.1
Gene Symbol	CTH
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607657.0005 http://purl.bioontology.org/ontology/OMIM/607657.0001 http://purl.bioontology.org/ontology/OMIM/607657.0004 http://purl.bioontology.org/ontology/OMIM/607657.0002 http://purl.bioontology.org/ontology/OMIM/607657.0003
MIMTYPEMEANING	Gene with known sequence
notation	607657
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CYSTATHIONINE GAMMA-LYASE
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E72.19	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.obolibrary.org/obo/PR_000006004	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/D003542	Medical Subject Headings	LOOM