Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Fabry Disease
Synonyms

Deficiency, alpha-Galactosidase A
Definitions

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
ID

http://purl.bioontology.org/ontology/MESH/D000795
altLabel

Deficiency, alpha-Galactosidase A

Angiokeratoma Corporis Diffusum

Hereditary Dystopic Lipidosis

alpha Galactosidase A Deficiency Disease

Deficiency, GLA

Diffuse Angiokeratoma

Angiokeratoma Diffuse

alpha-Galactosidase A Deficiency

Anderson Fabry Disease

Anderson-Fabry Disease

alpha Galactosidase A Deficiency

Ceramide Trihexosidase Deficiency

Deficiency, Ceramide Trihexosidase

Angiokeratoma, Diffuse

Fabry's Disease

GLA Deficiency

alpha-Galactosidase A Deficiency Disease

Lipidosis, Hereditary Dystopic
AN

do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0002986
DC

1
definition

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
DX

19730101
FX

D000519

D002518
HN

1999(1973)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D000519

http://purl.bioontology.org/ontology/MESH/D002518
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D009542

http://purl.bioontology.org/ontology/MESH/D020389

http://purl.bioontology.org/ontology/MESH/D014923

http://purl.bioontology.org/ontology/MESH/D005489

http://purl.bioontology.org/ontology/MESH/D016114

http://purl.bioontology.org/ontology/MESH/D052516

http://purl.bioontology.org/ontology/MESH/D012618

http://purl.bioontology.org/ontology/MESH/D038901

http://purl.bioontology.org/ontology/MESH/D007965

http://purl.bioontology.org/ontology/MESH/D020371

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D053307

http://purl.bioontology.org/ontology/MESH/D015794

http://purl.bioontology.org/ontology/MESH/D046589

http://purl.bioontology.org/ontology/MESH/D020388

http://purl.bioontology.org/ontology/MESH/D005776

http://purl.bioontology.org/ontology/MESH/D017241

http://purl.bioontology.org/ontology/MESH/D057973

http://purl.bioontology.org/ontology/MESH/D058540

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D020163

http://purl.bioontology.org/ontology/MESH/D006105

http://purl.bioontology.org/ontology/MESH/D055577

http://purl.bioontology.org/ontology/MESH/D055953

http://purl.bioontology.org/ontology/MESH/D019871

http://purl.bioontology.org/ontology/MESH/D053632

http://purl.bioontology.org/ontology/MESH/D028243

http://purl.bioontology.org/ontology/MESH/D006015

http://purl.bioontology.org/ontology/MESH/D005733

http://purl.bioontology.org/ontology/MESH/D059409

http://purl.bioontology.org/ontology/MESH/D055534

http://purl.bioontology.org/ontology/MESH/D052120

http://purl.bioontology.org/ontology/MESH/D002836

http://purl.bioontology.org/ontology/MESH/D013734

http://purl.bioontology.org/ontology/MESH/D053358
Machine permutation

1999; see FABRY'S DISEASE 1992-1998; see ANGIOKERATOMA CORPORIS DIFFUSUM 1973-1991; for FABRY'S DISEASE see ANGIOKERATOMA CORPORIS DIFFUSUM 1974-1991
Mapped from

http://purl.bioontology.org/ontology/MESH/C563940

http://purl.bioontology.org/ontology/MESH/C567062
MDA

19990101
MMR

20130708
MN

C14.907.253.329.374

C18.452.648.189.435.825.200

C16.320.322.124

C10.228.140.163.100.435.825.200

C18.452.584.687.803.300

C18.452.648.398.641.803.300

C16.320.565.189.435.825.200

C10.228.140.300.275.374

C18.452.132.100.435.825.200

C16.320.565.398.641.803.300

C16.320.565.595.554.825.200

C18.452.648.595.554.825.200
notation

D000795
prefLabel

Fabry Disease
TERMUI

T843439

T002358

T781487

T752796

T647662

T002357

T781486

T002359

T841352

T002356

T781488
TH

NLM (1973)

NLM (1992)

NLM (2010)

NLM (2007)

NLM (2014)

NLM (2012)

ORD (2010)

OMIM (2013)

NLM (1999)

GHR (2014)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D059345

http://purl.bioontology.org/ontology/MESH/D040181

http://purl.bioontology.org/ontology/MESH/D013106
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14499 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU001048 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.21 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/301500 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/301500 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/300644 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 National Cancer Institute Thesaurus LOOM