Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CYSTATHIONINURIA
Synonyms	CYSTATHIONASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/219500
altLabel	CYSTATHIONASE DEFICIENCY
cui	C3495552 C0220993
Gene Locus	1p31.1
Gene Symbol	CTH
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU013611 http://purl.bioontology.org/ontology/OMIM/MTHU013609 http://purl.bioontology.org/ontology/OMIM/MTHU041830 http://purl.bioontology.org/ontology/OMIM/MTHU027862 http://purl.bioontology.org/ontology/OMIM/MTHU008841
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	219500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CYSTATHIONINURIA
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0090142	Human Disease Ontology 123	LOOM
http://purl.obolibrary.org/obo/HP_0003153	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.19	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/C562680	Medical Subject Headings	CUI