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Preferred Name

Fabry's disease
Synonyms

Ruiter-Pompen syndrome
ID

http://purl.bioontology.org/ontology/SNMI/D6-74600
altLabel

Ruiter-Pompen syndrome

Ceramide lactoside lipidosis

GLA deficiency

Cardiovasorenal syndrome

Thesaurismosis hereditaria

Lactosyl ceramidosis

Angiokeratoma corporis diffusum universale

Anderson-Fabry disease

Sweeley-Klionsky disease

Ceramide trihexosidase deficiency

Hereditary dystopic lipidosis

alpha-Galactosidase-A deficiency

Thesaurismosis lipoidica
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-6A798
cui

C0002986
notation

D6-74600
prefLabel

Fabry's disease
SIC

272.7
SMX

(M-27000) (F-6A798)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-70000
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10071118 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10016016 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10002458 MDRGER 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/MEDDRA/10002458 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X40VJ RCD CUI
http://purl.bioontology.org/ontology/OMIM/301500 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016 MEDDRA 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/OMIM/300644 OMIM 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.bioontology.org/ontology/MEDDRA/10016016 MEDDRA LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Fabry_s_Disease PEDTERM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/16652001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/CSP/1849-9034 CRISP LOOM
http://purl.jp/bio/4/id/200906088444027259 IOBC LOOM