(Q5685180)

English

hawkinsinuria

disease

4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
HAWKINSINURIA
4-hydroxyphenylpyruvic acid dioxygenase deficiency
4-HPPD deficiency

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No label defined

No description defined

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Statements

0 references

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007700

amino acid metabolic disorder

1 reference

30 November 2020

autosomal dominant disease

1 reference

30 November 2020

0 references

2 references

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000158104/MONDO_0007700

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_2118

0 references

http://purl.obolibrary.org/obo/DOID_0111362

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111362

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C535845

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007700

Microsoft Academic ID

0 references

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

Sitelinks

Wikipedia(2 entries)

enwiki Hawkinsinuria
fawiki هاوکینسینوری

(Q5685180)

hawkinsinuria

Statements

Identifiers

Sitelinks

Wikipedia(2 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)