Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Achromatopsia
Synonyms

Rod monochromatism
ID

http://www.limics.org/hrdo/rdfns#pat_id_10639
ageOfOnset

Neonatal/infancy
altLabel

Rod monochromatism
id_MedDRA

10000454
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Achromatopsia+complete+%28congenital+OR+inherited%29
id_MIM

216900

262300

304020

610024

613093

613856
id_OMS

H53.5
id_Orpha

49382
id_SNOMEDCT

56852002
id_UMLS

C0152200
inheritance

Autosomal dominant

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_10639
prefLabel

Achromatopsia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/DOID_13911 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 EFO LOOM
http://purl.obolibrary.org/obo/HP_0011516 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_13911 DOID LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achromatopsia CSEO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00007304 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000454 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84528 NCIT LOOM
http://purl.bioontology.org/ontology/ICD9CM/368.54 ICD9CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17214 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/H53.51 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0152200 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_13911 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13911 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13911 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13911 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13911 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13911 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13911 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_49382 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13911 NATPRO LOOM
http://purl.bioontology.org/ontology/SNMI/DA-74740 SNMI LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/achromatopsia NEO LOOM
http://purl.obolibrary.org/obo/HP_0011516 UPHENO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/56852002 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C84528 BERO LOOM