(Q1242612)

English

dopamine beta-hydroxylase deficiency

genetic metabolic disorder

noradrenaline deficiency
norepinephrine deficiency
congenital dopamine beta-hydroxylase deficiency
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
dopamine beta hydroxylase deficiency

In more languages

Statements

class of disease

0 references

autonomic nervous system disease

0 references

congenital disorder of amino acid metabolism

0 references

inherited metabolic disorder

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

primary orthostatic hypotension

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of catecholamine synthesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

neurological disorder

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

symptoms and signs

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

anatomical location

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000123454/MONDO_0009123

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

270.8

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0090145

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0090145

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_230

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

1 reference

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Dopamine_beta_hydroxylase_deficiency&oldid=954051612

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

WikiProjectMed ID

Dopamine beta hydroxylase deficiency

0 references

Sitelinks

Wikipedia(4 entries)

dewiki Dopamin-β-Hydroxylase-Mangel
enwiki Dopamine beta hydroxylase deficiency
fawiki نقص دوپامین بتا هیدروکسیلاز
frwiki Déficit en dopamine bêta-hydroxylase

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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