isolated sulfite oxidase deficiency (Q55782334)

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human disease

• Sulfite Oxidase Deficiency
• ISOD
• SULFOCYSTEINURIA

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Language	Label	Description	Also known as
English	isolated sulfite oxidase deficiency	human disease	Sulfite Oxidase Deficiency ISOD SULFOCYSTEINURIA

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

rare disease

0 references

class of disease

0 references

subclass of

encephalopathy due to sulfite oxidase deficiency

0 references

autosomal recessive disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111270

inherited metabolic disorder

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111270

genetic association

SUOX

5 references

stated in

UniProt

UniProt protein ID

P51687

retrieved

13 August 2019

stated in

Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase

stated in

ClinGen

retrieved

9 December 2020

reference URL

https://search.clinicalgenome.org/kb/gene-validity/be1ff294-4444-4d39-a507-a2115bcdcd58--2019-03-22T16:00:00

stated in

ClinGen

retrieved

25 January 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be1ff294-4444-4d39-a507-a2115bcdcd58-2019-03-22T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000139531/MONDO_0010089

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://purl.obolibrary.org/obo/HP_0003643

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

HP:0003643

http://www.orpha.net/ORDO/Orphanet_833

0 references

http://www.orpha.net/ORDO/Orphanet_99731

0 references

http://purl.obolibrary.org/obo/DOID_0111270

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111270

http://identifiers.org/doid/DOID:0111270

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C538141

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

C538141

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

HP:0003643

KEGG ID

H01237

0 references

Disease Ontology ID

DOID:0111270

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0111270

GARD rare disease ID

5062

0 references

Genetics Home Reference Conditions ID

isolated-sulfite-oxidase-deficiency

0 references

Human Phenotype Ontology ID

HP:0003643

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

HP:0003643

ICD-10-CM

E72.1

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

Mondo ID

MONDO_0010089

0 references

OMIM ID

272300

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

Orphanet ID

99731

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

UMLS CUI

C2931746

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

C0268624

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010089

C0268624

1 reference

stated in

Human Phenotype Ontology release 2018-03-08

retrieved

8 October 2018

Human Phenotype Ontology ID

HP:0003643

UniProt disease ID

DI-01843

0 references

 

Sitelinks

Wikipedia(0 entries)

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Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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