(Q7861692)

English

tyrosinemia type III

tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine

Hypertyrosinemia type III
Hereditary tyrosinemia, Type III
High tyrosinemia
TYRSN3

In more languages

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Statements

instance of

designated intractable/rare disease

1 reference

reference URL

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

17 May 2019

0 references

0 references

1 reference

29 November 2020

0 references

drug or therapy used for treatment

1 reference

language of work or name

13 December 2016

1 reference

language of work or name

13 December 2016

2 references

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000158104/Orphanet_69723

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4696

language of work or name

Japanese

1 reference

reference URL

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

retrieved

17 May 2019

on focus list of Wikimedia project

0 references

1 reference

15 May 2019

http://purl.obolibrary.org/obo/DOID_0050727

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0050727

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

PatientsLikeMe condition ID

0 references

1 reference

29 November 2020

1 reference

imported from Wikimedia project

0 references

1 reference

imported from Wikimedia project

English Wikipedia

ICD-9 ID

270.2

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

7 August 2019

0 references

0 references

(Q7861692)

tyrosinemia type III

Statements

Identifiers

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