Medical Subject Headings

Last uploaded: January 16, 2025

Preferred Name	Fabry Disease
Synonyms	Deficiency, Ceramide Trihexosidase Deficiency, alpha-Galactosidase A Fabry's Disease alpha-Galactosidase A Deficiency Anderson Fabry Disease Diffuse Angiokeratoma alpha Galactosidase A Deficiency Disease Deficiency, GLA alpha Galactosidase A Deficiency Ceramide Trihexosidase Deficiency alpha-Galactosidase A Deficiency Disease Hereditary Dystopic Lipidosis Angiokeratoma Corporis Diffusum Angiokeratoma, Diffuse Lipidosis, Hereditary Dystopic Angiokeratoma Diffuse Anderson-Fabry Disease GLA Deficiency
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, Ceramide Trihexosidase Deficiency, alpha-Galactosidase A Fabry's Disease alpha-Galactosidase A Deficiency Anderson Fabry Disease Diffuse Angiokeratoma alpha Galactosidase A Deficiency Disease Deficiency, GLA alpha Galactosidase A Deficiency Ceramide Trihexosidase Deficiency alpha-Galactosidase A Deficiency Disease Hereditary Dystopic Lipidosis Angiokeratoma Corporis Diffusum Angiokeratoma, Diffuse Lipidosis, Hereditary Dystopic Angiokeratoma Diffuse Anderson-Fabry Disease GLA Deficiency
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	D002518 D000519
HN	1999(1973)
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D002518 http://purl.bioontology.org/ontology/MESH/D000519
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	20230825
MN	C14.907.253.329.374 C18.452.584.563.641.803.300 C10.228.140.300.275.374 C18.452.648.189.435.825.200 C16.320.565.595.554.825.200 C10.228.140.163.100.435.825.200 C16.320.565.189.435.825.200 C18.452.132.100.435.825.200 C18.452.648.398.641.803.300 C16.320.322.124 C16.320.565.398.641.803.300 C18.452.648.595.554.825.200
notation	D000795
prefLabel	Fabry Disease
TERMUI	T752796 T647662 T002356 T781487 T002358 T843439 T781486 T002357 T002359 T781488 T841352
TH	OMIM (2013) NLM (1973) NLM (1999) NLM (2012) NLM (1992) NLM (2010) GHR (2014) NLM (2007) NLM (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D013106 http://purl.bioontology.org/ontology/MESH/D059345

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/MTHU001048	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/301500	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16652001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124464003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10016016	MDRGER	CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941	LOINC	CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071118	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/16652001	SCTSPA	CUI
http://purl.bioontology.org/ontology/CSP/1849-9034	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.21	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/124464003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071118	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10016016	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10002458	MDRGER	CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4	LOINC	CUI
http://purl.bioontology.org/ontology/OMIM/300644	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10071118	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001048	OMIM	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/MDRGER/10016016	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X40VJ	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10002458	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/301500	OMIM	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/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/OMIM/300644	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10071118	MDRGER	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/DOID_14499	BAO	LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0	LOINC	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	EFO	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941	LOINC	LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4	LOINC	LOOM
http://purl.bioontology.org/ontology/OMIM/301500	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_14499	DOID	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://nanbyodata.jp/ontology/NANDO_2200563	NANDO	LOOM
http://purl.bioontology.org/ontology/OMIM/301500	OMIM	LOOM
http://localhost/plosthes.2017-1#1540613	PLOSTHES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010526	EFO	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
rgo:13286	GAMUTS	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	BMONT	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	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_14499	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_14499	FNS-H	LOOM
http://nanbyodata.jp/ontology/NANDO_1200157	NANDO	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