Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Fabry Disease
Synonyms
Definitions

A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
ID

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

An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
code

C84701
Contributing_Source

Cellosaurus

NICHD
definition

A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C123272

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147
label

Fabry Disease
NCI_META_CUI

CL412926
Preferred_Name

Fabry Disease
prefixIRI

NCIT:C84701
prefLabel

Fabry Disease
Semantic_Type

Disease or Syndrome
subClassOf

http://purl.obolibrary.org/obo/NCIT_C61250

http://purl.obolibrary.org/obo/NCIT_C117254
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Mapping To Ontology Source
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 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://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