isolated sulfite oxidase deficiency

human disease

Wikidata entity: Q55782334



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url None ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q14916244 (SUOX) SUOX
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q112193867 (class of disease) class of disease
P279 subclass of ... Q1758393 (inherited metabolic disorder) inherited metabolic disorder
P279 subclass of ... Q10267817 (autosomal recessive disease) autosomal recessive disease
P279 subclass of ... Q56014289 (encephalopathy due to sulfite oxidase deficiency) encephalopathy due to sulfite oxidase deficiency

External Ids
P699Disease Ontology IDDOID:0111270
P4317GARD rare disease ID5062
P7464Genetics Home Reference Conditions IDisolated-sulfite-oxidase-deficiency
P3841Human Phenotype Ontology IDHP:0003643
P4229ICD-10-CME72.1
P665KEGG IDH01237
P486MeSH descriptor IDC538141
P5270Mondo IDMONDO_0010089
P492OMIM ID272300
P492OMIM ID272300
P1550Orphanet ID99731
P2892UMLS CUIC0268624
P2892UMLS CUIC2931746
P11430UniProt disease IDDI-01843

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