(Q17156923)

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

inherited metabolic disorder

0 references

1 reference

30 November 2020

disorder of pterin metabolism

1 reference

dopamine-responsive dystonia

28 July 2018

Mondo ID

MONDO_0012994

1 reference

autosomal dominant disease

28 July 2018

1 reference

15 May 2019

1 reference

30 November 2020

autosomal recessive disease

1 reference

30 November 2020

4 references

13 August 2019

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

27 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d-2021-06-04T221815.205Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000116096/MONDO_0012994

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/5437

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

on focus list of Wikimedia project

17 May 2019

WikiProject Medicine

0 references

ICD-9-CM

277.89

1 reference

http://purl.obolibrary.org/obo/DOID_0111168

28 July 2018

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111168

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_70594

0 references

Identifiers

MeSH descriptor ID

C562657

mapping relation type

exact match

1 reference

Genetics Home Reference Conditions ID

28 July 2018

1 reference

28 August 2019

1 reference

1 reference

30 November 2020

0 references

1 reference

28 August 2019

sepiapterin-reductase-deficiency

0 references

ICD-10-CM

G24.1

1 reference