Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Sulfite oxidase deficiency
Synonyms	Sulfocysteinuria
ID	http://purl.bioontology.org/ontology/MESH/C538141
altLabel	Sulfocysteinuria
cui	C0268624 C2931746
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D050876/Q000172 D000592
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000592 http://purl.bioontology.org/ontology/MESH/D050876
MDA	20100825
MeSH Frequency	21
MMR	20150927
notation	C538141
prefLabel	Sulfite oxidase deficiency
SC	3
Scope Statement	An autosomal recessive metabolic disorder caused by mutations in the SUOX gene (sulfite oxidase). Findings may include ECTOPIA LENTIS; ECZEMA; HEMIPLEGIA; MUSCLE HYPOTONIA or MUSCLE HYPERTONIA; SEIZURES; ATAXIA and DEVELOPMENTAL DISABILITIES. It is characterized by increased urinary sulfite and decreased urinary sulfate and may be lethal in infancy. OMIM: 272300
TERMUI	T744864 T744863
TH	ORD (2010) OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/HP_0003643	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/OMIM/MTHU058999	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU058999	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/272300	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/272300	Online Mendelian Inheritance in Man	CUI