lysinuric protein intolerance (Q3153671)

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Human disease

• LPI
• dibasic amino aciduria II
• hyperdibasic aminoaciduria
• familial protein intolerance
• Dibasic aminoaciduria 2
• LYSINURIC PROTEIN INTOLERANCE
• Hyperdibasic aminoaciduria type 2
• LYSINURIC PROTEIN INTOLERANCE; LPI
• Dibasic Amino Aciduria 2
• Dibasicamino aciduria II

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Language	Label	Description	Also known as
English	lysinuric protein intolerance	Human disease	LPI dibasic amino aciduria II hyperdibasic aminoaciduria familial protein intolerance Dibasic aminoaciduria 2 LYSINURIC PROTEIN INTOLERANCE Hyperdibasic aminoaciduria type 2 LYSINURIC PROTEIN INTOLERANCE; LPI Dibasic Amino Aciduria 2 Dibasicamino aciduria II

Statements

instance of

designated intractable/rare disease

1 reference

reference URL

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

retrieved

17 May 2019

class of disease

0 references

subclass of

amino acid metabolic disorder

2 references

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060439

amino acid transport disorder

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

disorder of lysine and hydroxylysine metabolism

0 references

genetic disease

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060439

image

L-lysine-2D-skeletal.png
1,100 × 1,647; 43 KB

1 reference

imported from Wikimedia project

Spanish Wikipedia

Wikimedia import URL

https://es.wikipedia.org/w/index.php?title=Intolerancia_a_la_proteína_lisinúrica&oldid=120120353

health specialty

endocrinology

0 references

genetic association

SLC7A7

4 references

stated in

UniProt

UniProt protein ID

Q9UM01

retrieved

13 August 2019

stated in

ClinGen

retrieved

9 December 2020

reference URL

https://search.clinicalgenome.org/kb/gene-validity/207778e3-aff9-427d-ae87-f68fd938af88--2019-11-08T17:00:00

stated in

ClinGen

retrieved

25 January 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207778e3-aff9-427d-ae87-f68fd938af88-2019-11-08T170000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000155465/MONDO_0009109

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4681

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

WikiProject Medicine

0 references

ICD-9-CM

270.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

NCI Thesaurus ID

C121563

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060439

exact match

http://purl.obolibrary.org/obo/DOID_0060439

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060439

http://identifiers.org/doid/DOID:0060439

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C562687

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

Mondo ID

MONDO_0009109

retrieved

28 July 2018

C562687

0 references

KEGG ID

H00899

0 references

Disease Ontology ID

DOID:0060439

1 reference

stated in

Disease Ontology

retrieved

30 November 2020

Disease Ontology ID

DOID:0060439

DiseasesDB

29819

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

topic/lysinuric-protein-intolerance

subject named as

lysinuric protein intolerance

0 references

GARD rare disease ID

3335

2 references

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060439

1853

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

GeneReviews ID

NBK1361

1 reference

imported from Wikimedia project

English Wikipedia

Genetics Home Reference Conditions ID

lysinuric-protein-intolerance

0 references

ICD-10-CM

E72.0

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009109

Microsoft Academic ID

2780371534

0 references

Mondo ID

MONDO_0009109

0 references

OMIM ID

222700

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060439

Orphanet ID

470

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060439

SNOMED CT ID

367410007

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Lysinuric_protein_intolerance&oldid=948421653

UMLS CUI

C0268647

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060439

UniProt disease ID

DI-01920

0 references

WikiProjectMed ID

Lysinuric protein intolerance

0 references

YSO ID

11409

1 reference

stated in

YSO-Wikidata mapping project

publication date

20 June 2023

 

Sitelinks

Wikipedia(4 entries)

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• enwiki Lysinuric protein intolerance
• eswiki Intolerancia a la proteína lisinúrica
• fiwiki Lysinuurinen proteiini-intoleranssi
• frwiki Intolérance aux protéines avec lysinurie

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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