Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Chediak-Higashi syndrome
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_249
ageOfOnset

Kindesalter

Infanzia

Childhood

Infância

Infancia

Childhood

Enfance
id_MedDRA

10008415
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22chediak-higashi+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22chediak-higashi+syndrome%22%5BMH%5D
id_MeSH

D002609
id_MIM

214500
id_OMS

E70.3
id_Orpha

167
id_SNOMEDCT

111396008
id_UMLS

C0007965
inheritance

Autosómico recesivo

Autosomal recessive

Autossómica recessiva

Autosomica recessiva

Autosomal recessive

Autosomique récessif

Autosomal-rezessiv
patType

disease
prefixIRI

hrdo:pat_id_249
prefLabel

Síndrome de Chediak-Higashi

Chediak-Higashi-Syndrom

Síndrome de Chediak-Higashi

Chediak-Higashi syndrome

Sindrome di Chediak-Higashi

Syndrome de Chediak-Higashi
prevalence

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000
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_0008963 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008963 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2935 DOID LOOM
http://purl.obolibrary.org/obo/DERMO_0000222 DERMO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037483 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D002609 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/214500 OMIM LOOM
http://identifiers.org/omim/214500 REXO LOOM
http://identifiers.org/omim/214500 GEXO LOOM
http://identifiers.org/omim/214500 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.774.257 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D002609 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0003935 OMIT LOOM
http://purl.obolibrary.org/obo/MONDO_0008963 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2935 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008415 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_2935 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2935 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2935 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2935 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2935 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-1918 CRISP LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15502 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.553.774.257 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C302800 RCTV2 LOOM
http://purl.obolibrary.org/obo/OMIM_214500 CCO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A2430 SNMI LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2941 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.330 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0007965 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C2941 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2726 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002609 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X20Dv RCD LOOM
http://purl.jp/bio/4/id/200906086134097300 IOBC LOOM