Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Aniridia
Synonyms

Deletion 11p
ID

http://www.limics.org/hrdo/rdfns#pat_id_6018
ageOfDeath

Normal
ageOfOnset

Childhood
altLabel

Deletion 11p
id_MedDRA

10002532
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22aniridia%22%5BMeSH+Terms%5D+OR+%28Aniridia%5BTIAB%5D+NOT+medline%5BSB%5D%29%29+AND+sporadic%5BTIAB%5D
id_MeSH

C538293

D015783
id_OMS

Q13.1
id_Orpha

77
id_SNOMEDCT

69278003
id_UMLS

C0003076

C2931795
inheritance

Autosomal dominant

Sporadic
patType

group of phenomes
prefixIRI

hrdo:pat_id_6018
prefLabel

Aniridia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_13651

http://www.limics.org/hrdo/rdfns#pat_id_13658

http://www.limics.org/hrdo/rdfns#pat_id_13571
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10002532 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0003076 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.384.079 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000526 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000526 HP LOOM
http://purl.obolibrary.org/obo/HP_0000526 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000526 KTAO LOOM
http://purl.obolibrary.org/obo/HP_0000526 OBA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.060 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1201001 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12271 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12271 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12271 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12271 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12271 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12271 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12271 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12271 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Aniridia CSEO LOOM
http://www.ifomis.org/acgt/1.0#Aniridia ACGT-MO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1211 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 KTAO LOOM
http://purl.obolibrary.org/obo/NCIT_C84563 BERO LOOM
http://purl.bioontology.org/ontology/RCD/P343. RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84563 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007655 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D015783 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-A0310 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_106210 CCO LOOM
http://purl.obolibrary.org/obo/MP_0005261 MP LOOM
http://purl.obolibrary.org/obo/MP_0005261 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005261 CHIRO LOOM
http://purl.bioontology.org/ontology/LNC/LA24630-8 LOINC LOOM
http://purl.bioontology.org/ontology/ICD9CM/743.45 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/743.45 NLMVS LOOM
http://purl.obolibrary.org/obo/OMIT_0016423 OMIT LOOM
http://doe-generated-ontology.com/OntoAD#C0003076 ONTOAD LOOM
rgo:25949 GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12271 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.250.060 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.078 RH-MESH LOOM
http://identifiers.org/omim/106210 REXO LOOM
http://identifiers.org/omim/106210 GEXO LOOM
http://identifiers.org/omim/106210 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015783 RH-MESH LOOM
http://purl.jp/bio/4/id/200906046940580338 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085376 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.941.375.060 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D015783 MDM LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0306 IFAR LOOM
http://purl.bioontology.org/ontology/RCTV2/P343.00 RCTV2 LOOM