Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/219500 http://purl.bioontology.org/ontology/OMIM/219500
Preferred Name	CYSTATHIONINURIA
Synonyms	CYSTATHIONASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CYSTATHIONASE DEFICIENCY
prefLabel	CYSTATHIONINURIA
Gene Symbol	CTH
Scope Statement	Majority of patients are pyridoxine-responsive [MISCELLANEOUS] Caused by mutations in the cystathionase gene (CTH, 607657.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008841 http://purl.bioontology.org/ontology/OMIM/MTHU013609
tui	T047
Gene Locus	1p31.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	219500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0220993 C3495552
OMIM Entry Type	3
OMIM MimType Value	pound

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