Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

Fabry disease
Synonyms

ceramide trihexosidase deficiency

Fabry disease, Cardiac variant

Gla deficiency

hereditary dystopic lipidosis

angiokeratoma, diffuse

Alpha-galactosidase A deficiency

angiokeratoma corporis diffusum

Fabry's disease

deficiency of melibiase

Fabry disease

alpha galactosidase deficiency

diffuse angiokeratoma

Fd

Anderson-Fabry disease
Definitions

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
ID

http://purl.obolibrary.org/obo/MONDO_0010526
closeMatch

http://identifiers.org/snomedct/124464003

http://identifiers.org/snomedct/190796008

http://identifiers.org/snomedct/190792005

http://linkedlifedata.com/resource/umls/id/C1970820

http://identifiers.org/snomedct/236536000
database_cross_reference

DOID:14499

UMLS:C0002986

ICD10:E75.2

Orphanet:324

MESH:D000795

NCIT:C84701

GARD:0006400

MedDRA:10016016

OMIM:301500

SCTID:16652001

ICD10:E75.21
disease causes disruption of

http://purl.obolibrary.org/obo/GO_0004557
disease has basis in disruption of

http://purl.obolibrary.org/obo/GO_0004557
disease has basis in dysfunction of

http://identifiers.org/hgnc/4296
exactMatch

http://identifiers.org/meddra/10016016

http://linkedlifedata.com/resource/umls/id/C0002986

http://identifiers.org/snomedct/16652001

http://identifiers.org/omim/301500

http://purl.obolibrary.org/obo/NCIT_C27528

http://identifiers.org/mesh/D000795

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

http://purl.obolibrary.org/obo/NCIT_C84701

http://www.orpha.net/ORDO/Orphanet_324
has exact synonym

Alpha-galactosidase A deficiency

angiokeratoma corporis diffusum

Fabry's disease

deficiency of melibiase

Fabry disease

alpha galactosidase deficiency

diffuse angiokeratoma

Fd

Anderson-Fabry disease
has related synonym

ceramide trihexosidase deficiency

Fabry disease, Cardiac variant

Gla deficiency

hereditary dystopic lipidosis

angiokeratoma, diffuse
id

MONDO:0010526
imported from

http://purl.obolibrary.org/obo/mondo.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

http://purl.oboInOwllibrary.org/oboInOwl/mondo#clingen
label

Fabry disease
notation

MONDO:0010526
prefLabel

Fabry disease
textual definition

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0044976

http://purl.obolibrary.org/obo/MONDO_0020279

http://purl.obolibrary.org/obo/MONDO_0024255

http://purl.obolibrary.org/obo/MONDO_0016341

http://purl.obolibrary.org/obo/MONDO_0019313

http://purl.obolibrary.org/obo/MONDO_0015327

http://purl.obolibrary.org/obo/MONDO_0016133

http://purl.obolibrary.org/obo/MONDO_0019255

http://purl.obolibrary.org/obo/MONDO_0019293

http://purl.obolibrary.org/obo/MONDO_0019520

http://purl.obolibrary.org/obo/MONDO_0043218

http://purl.obolibrary.org/obo/MONDO_0015905

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0016326

http://purl.obolibrary.org/obo/MONDO_0020228

http://purl.obolibrary.org/obo/MONDO_0019743

http://purl.obolibrary.org/obo/MONDO_0016397
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010526 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010526 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010526 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010526 EFO SAME_URI
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 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 DOVES 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
http://purl.bioontology.org/ontology/MESH/D000795 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