Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Fabry disease
Synonyms

Alpha-galactosidase A deficiency

Fabry's disease

Diffuse angiokeratoma

FD

Angiokeratoma Corporis Diffusum

Anderson-Fabry disease
ID

http://www.limics.org/hrdo/rdfns#pat_id_94
ageOfDeath

Adult
ageOfOnset

Childhood
altLabel

Alpha-galactosidase A deficiency

Fabry's disease

Diffuse angiokeratoma

FD

Angiokeratoma Corporis Diffusum

Anderson-Fabry disease
id_MedDRA

10016016
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fabry+disease%22%5BMeSH+Terms%5D+OR+Fabry+disease%5BTi%5D
id_MeSH

D000795
id_MIM

301500
id_OMS

E75.2
id_Orpha

324
id_SNOMEDCT

124464003

16652001
id_UMLS

C0002986
inheritance

X-linked recessive
patType

disease
prefixIRI

hrdo:pat_id_94
prefLabel

Fabry disease
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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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://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