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Metadata
ID DOID:0111270
Name isolated sulfite oxidase deficiency
Definition An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.
https://www.ncbi.nlm.nih.gov/books/NBK453433/, https://www.ncbi.nlm.nih.gov/pubmed/6025118, https://www.ncbi.nlm.nih.gov/pubmed/9428520
Xrefs

GARD:5062

ICD10CM:E72.19

MESH:C538141

OMIM:272300

ORDO:99731

SNOMEDCT_US_2023_03_01:237935000

SNOMEDCT_US_2023_03_01:40873003

UMLS_CUI:C0268624

UMLS_CUI:C2931746

Subsets

DO_rare_slim

Synonyms

sulfocysteinuria [EXACT]

Parent Relationships

is_a inherited metabolic disorder

is_a autosomal recessive disease

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