(Q55782334)

encephalopathy due to sulfite oxidase deficiency

28 July 2018

0 references

0 references

0 references

autosomal recessive disease

1 reference

30 November 2020

inherited metabolic disorder

1 reference

30 November 2020

5 references

13 August 2019

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

9 December 2020

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

25 January 2022

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

Open Targets Platform

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

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

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

1 reference

8 October 2018

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

HP:0003643

0 references

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

0 references

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

1 reference

30 November 2020

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

1 reference

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

Identifiers.org

reference URL

Identifiers

MeSH descriptor ID

C538141

1 reference

28 July 2018

1 reference

8 October 2018

Genetics Home Reference Conditions ID

0 references

1 reference

30 November 2020

0 references

isolated-sulfite-oxidase-deficiency

0 references

HP:0003643

1 reference

8 October 2018

1 reference

28 July 2018

0 references

1 reference

28 July 2018

1 reference

28 July 2018

close match

1 reference

28 July 2018

close match

1 reference

28 July 2018

1 reference

8 October 2018