Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Age-related macular degeneration
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_3259
ageOfDeath

Normal
ageOfOnset

Adulthood
id_MedDRA

10064930
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=macular+degeneration%5Bmajr:noexp%5D+AND+aged%5Bmh%5D+NOT+child%5Bmh%5D
id_MIM

153800

603075

608895

610149

610698

611378

611488

611953

613757

613761

613778

613784
id_OMS

H35.3
id_Orpha

279
id_SNOMEDCT

267718000
id_UMLS

C0242383
inheritance

Autosomal dominant

Multigenic/multifactorial
patType

disease
prefixIRI

hrdo:pat_id_3259
prefLabel

Age-related macular degeneration
prevalence

>1 / 1000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/NCIT_C84391 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#24801 OCHV LOOM
http://id.nlm.nih.gov/mesh/D008268 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0005150 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005150 DOVES LOOM
urn:agi-folder:age-related_macular_degeneration BPT LOOM
http://www.ebi.ac.uk/efo/EFO_0001365 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0001365 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0001365 EFO LOOM
http://doe-generated-ontology.com/OntoAD#C0242383 ONTOAD LOOM
http://purl.obolibrary.org/obo/HP_0007868 DIAB LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064930 MEDDRA LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12812 BIRNLEX LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU068676 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84391 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_10871 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10871 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10871 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10871 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10871 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10871 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10871 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/XE18j RCD LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12812 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12812 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/267718000 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10871 NATPRO LOOM