Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Wolfram syndrome
Synonyms

DIDMOAD syndrome

Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness
ID

http://www.limics.org/hrdo/rdfns#pat_id_812
ageOfDeath

Adult
ageOfOnset

Childhood
altLabel

DIDMOAD syndrome

Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=wolfram+syndrome+OR+DIDMOAD+OR+%28optic+atrophy%5Bmajr%5D+AND+diabetes+mellitus%5Bmajr%5D%29
id_MeSH

D014929
id_MIM

222300

598500

604928

614296
id_OMS

E10.7

H48.0
id_Orpha

3463
id_SNOMEDCT

70694009
id_UMLS

C0043207
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_812
prefLabel

Wolfram syndrome
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.394.750.124.960 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.135.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.751.418.341.186.500.750 RH-MESH LOOM
rgo:25416 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.966.075.375.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.564.980 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036605 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70694009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.640.451.451.980 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.751.941.162.625.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014929 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.135.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.630.980 RH-MESH LOOM
http://purl.jp/bio/4/id/200906078669072126 IOBC LOOM
http://nanbyodata.jp/ontology/NANDO_1200757 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.700.159.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D014929 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.292.700.225.500.980 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13178 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0015753 OMIT LOOM
http://purl.obolibrary.org/obo/HIO_0000027 HIO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.564.980 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 DOVES LOOM
urn:agi-folder:wolfram_syndrome BPT LOOM
http://www.orpha.net/ORDO/Orphanet_3463 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C09.218.458.341.186.500.750 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Wolfram_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.662.980 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.246.267.960 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10632 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.299.750 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078338 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0043207 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.951 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_10632 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10632 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10632 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10632 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10632 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10632 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10632 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10632 FNS-H LOOM
http://purl.obolibrary.org/obo/OGMD_0000074 OGMD LOOM
http://purl.obolibrary.org/obo/NCIT_C35133 BERO LOOM