Mondo Disease Ontology

Last uploaded: December 3, 2024

Preferred Name	Fabry disease
Synonyms	ceramide trihexosidase deficiency Fabry disease, Cardiac variant Gla deficiency hereditary dystopic lipidosis angiokeratoma, diffuse Alpha-galactosidase A deficiency FD 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
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0010526
database_cross_reference	icd11.foundation:66996647 DOID:14499 GARD:6400 UMLS:C0002986 Orphanet:324 MESH:D000795 NANDO:2200563 MEDGEN:8083 NORD:1115 NANDO:1200157 NCIT:C84701 MedDRA:10016016 OMIM:301500 SCTID:16652001
definition	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
has_exact_synonym	Alpha-galactosidase A deficiency FD 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
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5682
id	MONDO:0010526
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	Fabry disease
notation	MONDO:0010526
prefLabel	Fabry disease
skos_closeMatch	http://identifiers.org/meddra/10016016
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0002986 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/66996647 http://identifiers.org/medgen/8083 http://purl.obolibrary.org/obo/Orphanet_324 https://omim.org/entry/301500 http://identifiers.org/snomedct/16652001 http://identifiers.org/mesh/D000795 http://purl.obolibrary.org/obo/DOID_14499 http://purl.obolibrary.org/obo/NCIT_C84701
treeView	http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0019255
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0016340 http://purl.obolibrary.org/obo/MONDO_0019293 http://purl.obolibrary.org/obo/MONDO_0019520 http://purl.obolibrary.org/obo/MONDO_0005328 http://purl.obolibrary.org/obo/MONDO_0019743 http://purl.obolibrary.org/obo/MONDO_0020127
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0019255

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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	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010526	KTAO	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	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
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