PedAM

Pediatric Disease Annotations & Medicines


	sulfite oxidase deficiency

Disease ID	1437
Disease	sulfite oxidase deficiency
Definition	Abnormally reduced sulfite oxidase activity. [HPO:probinson]
Synonym	deficiency of sulfite oxidase deficiency of sulfite oxidase (disorder) deficiency of sulphite oxidase sulfite oxidase deficiency (disorder) sulphite oxidase deficiency sulphite oxidase deficiency (disorder) sulphite oxidase deficiency [ambiguous]
OMIM	OMIM:272300
UMLS	C0268624
SNOMED-CT	SNOMEDCT_US_2016_09_01:367368009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0037769 \| infantile spasms \| 1 C0234166 \| hyperekplexia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) SUOX \| 6821 \| CLINVAR;CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1437
Disease	sulfite oxidase deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001297 \| Cerebral vascular events \| 1 HP:0012469 \| Infantile spasms \| 1

Disease ID	1437
Disease	sulfite oxidase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs794729211	NA	6821	SUOX	umls:C0268624	CLINVAR	NA	0.240814326	NA	SUOX	12	56003721	T	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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