Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Hemoglobin C disease
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_3653
ageOfDeath

Normal

Normal

Normal

Normale

Normal

Normal

Normal
ageOfOnset

Variable

Variabile

Variabel

Variable

Variable

Variável

Variable
id_MedDRA

10018883
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hemoglobin+C+disease%5Bti%5D+OR+Hemoglobin+C+disease%5Bmh%5D+OR+Haemoglobin+C+disease%5Bti%5D
id_MeSH

D006445
id_OMS

D58.2
id_Orpha

2132
id_SNOMEDCT

51053007
id_UMLS

C0019021
inheritance

Autosómico recesivo

Autosomal recessive

Autossómica recessiva

Autosomica recessiva

Autosomal recessive

Autosomique récessif

Autosomal-rezessiv
patType

disease
prefixIRI

hrdo:pat_id_3653
prefLabel

Hämoglobin-C-Krankheit

Hémoglobinose C

Hemoglobin C disease

Doença de hemoglobina C

Hemoglobinosis C

Emoglobinopatia C
prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016242 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2859 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200635 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016242 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51053007 SNOMEDCT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hemoglobin_C_Disease PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34675 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055596 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.070.490 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2859 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.420.463 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemoglobin_C_Disease CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006445 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036565 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_2859 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2859 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2859 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2859 FNS-H LOOM
http://www.gamuts.net/entity#hemoglobin_C_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0016242 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.365.463 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D006445 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C34675 BERO LOOM
http://purl.jp/bio/4/id/200906084448395435 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_2132 ORDO LOOM
http://purl.obolibrary.org/obo/SCDO_0000519 SCDO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-20100 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.141.150.490 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007614 OMIT LOOM
http://id.nlm.nih.gov/mesh/D006445 MDM LOOM