Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SULFOCYSTEINURIA
Synonyms	SULFITE OXIDASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/272300
altLabel	SULFITE OXIDASE DEFICIENCY
cui	C0268624 C2931746
Gene Locus	Chr.12
Gene Symbol	SUOX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004673 http://purl.bioontology.org/ontology/OMIM/MTHU004742 http://purl.bioontology.org/ontology/OMIM/MTHU009200 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU001903 http://purl.bioontology.org/ontology/OMIM/MTHU037958 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU007699 http://purl.bioontology.org/ontology/OMIM/MTHU009199 http://purl.bioontology.org/ontology/OMIM/MTHU009197 http://purl.bioontology.org/ontology/OMIM/MTHU009203 http://purl.bioontology.org/ontology/OMIM/MTHU009201 http://purl.bioontology.org/ontology/OMIM/MTHU009195 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU037959 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU009198 http://purl.bioontology.org/ontology/OMIM/MTHU009196
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	272300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SULFOCYSTEINURIA
tui	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.bioontology.org/ontology/MESH/C538141	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C538141	Medical Subject Headings	CUI