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Fabry disease (Q615645)

From Wikidata

rare human genetic lysosomal storage disorder

Fabry's disease
Anderson-Fabry disease
angiokeratoma corporis diffusum
alpha-galactosidase A deficiency
Fabry's disease (disorder)
alpha galactosidase deficiency
deficiency of melibiase
Hereditary Dystopic Lipidosis
Fabry Disease, Cardiac Variant
Ceramide Trihexosidase Deficiency
Diffuse angiokeratoma
FD
Gla Deficiency
FABRY DISEASE
Fabry's angiokeratosis

Language	Label	Description	Also known as
default for all languages	No label defined
English	Fabry disease	rare human genetic lysosomal storage disorder	Fabry's disease Anderson-Fabry disease angiokeratoma corporis diffusum alpha-galactosidase A deficiency Fabry's disease (disorder) alpha galactosidase deficiency deficiency of melibiase Hereditary Dystopic Lipidosis Fabry Disease, Cardiac Variant Ceramide Trihexosidase Deficiency Diffuse angiokeratoma FD Gla Deficiency FABRY DISEASE Fabry's angiokeratosis

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

genetic disease

1 reference

imported from Wikimedia project

English Wikipedia

25 August 2021

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Fabry_disease&oldid=1040423818

class of disease

0 references

symptom or sign

0 references

sphingolipidosis

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

29 November 2020

Disease Ontology ID

developmental anomaly of metabolic origin

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic skin vascular disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare genetic epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

vascular skin disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

hypertrophic cardiomyopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

sphingolipidosis with epilepsy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic lymphedema

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

nephropathy secondary to a storage or other metabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

cataract associated with a metabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

metabolic disease with corneal opacity

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

lysosomal disease with restrictive cardiomyopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

lysosomal disease with hypertrophic cardiomyopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare hereditary metabolic disease with peripheral neuropathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndrome associated with hypertrophic cardiomyopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

PBB Protein GLA image.jpg
500 × 500; 52 KB

1 reference

imported from Wikimedia project

Spanish Wikipedia

Wikimedia import URL

https://es.wikipedia.org/w/index.php?title=Enfermedad_de_Fabry&oldid=119484840

0 references

health specialty

0 references

0 references

0 references

0 references

symptoms and signs

0 references

restrictive cardiomyopathy

0 references

arterial hypertension

0 references

0 references

0 references

0 references

cornea verticillata

0 references

peripheral neuropathy

0 references

0 references

0 references

0 references

chronic neuropathic pain

0 references

possible treatment

enzyme replacement therapy

1 reference

imported from Wikimedia project

English Wikipedia

25 August 2021

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Fabry_disease&oldid=1040423818

drug or therapy used for treatment

agalsidase beta

2 references

language of work or name

13 December 2016

Drug Indications Extracted from FAERS

2 October 2018

migalastat hydrochloride

medicine marketing authorization

EMA authorized for human use

26 May 2016

1 reference

European Medicines Agency

1 March 2017

http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/004059/human_med_001981.jsp

genetic association

5 references

UniProt protein ID

13 August 2019

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/eb4bb6f4-89de-4586-af6b-3f218b8cb4dc--2019-01-23T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000102393/MONDO_0010526

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

T99

1 reference

imported from Wikimedia project

Spanish Wikipedia

NCI Thesaurus ID

C27528

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C84701

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_14499

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:14499

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0001071

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

http://www.orpha.net/ORDO/Orphanet_324

0 references

Commons category

Fabry disease

0 references

Identifiers

1 reference

imported from Wikimedia project

German Wikipedia

MeSH descriptor ID

mapping relation type

subject named as

Fabry Disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C10.228.140.163.100.435.825.200

broader concept

sphingolipidosis

0 references

C10.228.140.300.275.374

broader concept

cerebral small vessel diseases

0 references

C14.907.253.329.374

broader concept

cerebral small vessel diseases

0 references

C16.320.322.124

broader concept

X-linked disease

0 references

C16.320.565.189.435.825.200

broader concept

sphingolipidosis

0 references

C16.320.565.398.641.803.300

broader concept

sphingolipidosis

0 references

C16.320.565.595.554.825.200

broader concept

sphingolipidosis

0 references

C18.452.132.100.435.825.200

broader concept

sphingolipidosis

0 references

C18.452.584.563.641.803.300

broader concept

sphingolipidosis

0 references

C18.452.648.189.435.825.200

broader concept

sphingolipidosis

0 references

C18.452.648.398.641.803.300

broader concept

sphingolipidosis

0 references

C18.452.648.595.554.825.200

broader concept

sphingolipidosis

0 references

PatientsLikeMe condition ID

fabry-s-disease

0 references

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

imported from Wikimedia project

English Wikipedia

Encyclopædia Britannica Online ID

science/Fabrys-disease

subject named as

Fabry’s disease

0 references

Encyclopædia Universalis ID

maladie-de-fabry

0 references

Encyclopedia of China (Third Edition) ID

subject named as

法布里病

0 references

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

2 references

Disease Ontology

15 May 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

ICD-11 ID (Foundation)

0 references

0 references

ICD-11 ID (MMS)

5C56.01

subject named as

Fabry disease

0 references

1 reference

imported from Wikimedia project

English Wikipedia

JSTOR topic ID (archived)

0 references

Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Disease Ontology

15 May 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

Ziekte_van_Fabry

0 references

WikiProjectMed ID

0 references

WikiSkripta article ID

0 references

subject named as

Fabryn tauti

Fabrys sjukdom

Fabry's disease

1 reference

YSO-Wikidata mapping project

28 January 2022

Sitelinks

Wikipedia(28 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Fabry disease

Retrieved from "https://www.wikidata.org/w/index.php?title=Q615645&oldid=2382991629"