Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FABRY DISEASE
Synonyms

GLA DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/301500
altLabel

GLA DEFICIENCY

FABRY DISEASE, CARDIAC VARIANT

HEREDITARY DYSTOPIC LIPIDOSIS

ANGIOKERATOMA CORPORIS DIFFUSUM

ANDERSON-FABRY DISEASE

CERAMIDE TRIHEXOSIDASE DEFICIENCY

ALPHA-GALACTOSIDASE A DEFICIENCY
cui

C0002986

C1970820
Gene Locus

Xq22
Gene Symbol

GLA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU008095

http://purl.bioontology.org/ontology/OMIM/MTHU002773

http://purl.bioontology.org/ontology/OMIM/MTHU008087

http://purl.bioontology.org/ontology/OMIM/MTHU061659

http://purl.bioontology.org/ontology/OMIM/MTHU008097

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU008107

http://purl.bioontology.org/ontology/OMIM/MTHU008090

http://purl.bioontology.org/ontology/OMIM/MTHU008099

http://purl.bioontology.org/ontology/OMIM/MTHU025533

http://purl.bioontology.org/ontology/OMIM/MTHU025537

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU008084

http://purl.bioontology.org/ontology/OMIM/MTHU025528

http://purl.bioontology.org/ontology/OMIM/MTHU008082

http://purl.bioontology.org/ontology/OMIM/MTHU008085

http://purl.bioontology.org/ontology/OMIM/MTHU008091

http://purl.bioontology.org/ontology/OMIM/MTHU008088

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU008096

http://purl.bioontology.org/ontology/OMIM/MTHU025538

http://purl.bioontology.org/ontology/OMIM/MTHU001042

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU008102

http://purl.bioontology.org/ontology/OMIM/MTHU061658

http://purl.bioontology.org/ontology/OMIM/MTHU025529

http://purl.bioontology.org/ontology/OMIM/MTHU025531

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU008098

http://purl.bioontology.org/ontology/OMIM/MTHU025530

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU025532

http://purl.bioontology.org/ontology/OMIM/MTHU025536

http://purl.bioontology.org/ontology/OMIM/MTHU008101

http://purl.bioontology.org/ontology/OMIM/MTHU002455

http://purl.bioontology.org/ontology/OMIM/MTHU008086

http://purl.bioontology.org/ontology/OMIM/MTHU025534

http://purl.bioontology.org/ontology/OMIM/MTHU025535

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

301500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FABRY DISEASE
Scope Statement

Female carriers experience significant clinical manifestations [MISCELLANEOUS]

Occurs in at least 1 in 55,000 male births (that figure may not include milder variants) [MISCELLANEOUS]

Caused by mutation in alpha-galactosidase A gene (GLA, 300644.0001) [MOLECULAR BASIS]

Onset usually in childhood or adolescence [MISCELLANEOUS]

Atypical affected males, 'cardiac variants' 301500.0005 exist [MISCELLANEOUS]

Death secondary to renal failure, cardiac or cerebrovascular disease [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10071118 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C567062 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10016016 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10002458 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/16652001 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40VJ RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74600 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10071118 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D000795 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16652001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10071118 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-9034 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016016 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.21 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124464003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000411 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124464003 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0010526 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200563 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14499 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14499 BMONT LOOM
http://nanbyodata.jp/ontology/NANDO_1200157 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fabry_Disease CSEO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036615 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.329.374 RH-MESH LOOM
http://localhost/plosthes.2017-1#1540613 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 KTAO LOOM
http://www.gamuts.net/entity#Fabry_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIT_0002202 OMIT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_94 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002986 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15120 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D000795 MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000522 DERMO LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC LOOM
http://id.nlm.nih.gov/mesh/D000795 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.200 RH-MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0002986 HFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.300 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14499 NATPRO LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859267 ACVD_ONTOLOGY LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 CVAO LOOM
http://purl.obolibrary.org/obo/OMIM_301500 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.200 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1173 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000795 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.275.374 RH-MESH LOOM
http://identifiers.org/omim/301500 REXO LOOM
http://identifiers.org/omim/301500 GEXO LOOM
http://identifiers.org/omim/301500 RETO LOOM
http://www.co-ode.org/ontologies/galen#FabryDisease GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.124 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14499 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14499 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14499 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14499 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14499 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84701 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.200 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_324 ORDO LOOM