Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Niemann-Pick disease type A
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_11105
ageOfDeath

Before age 5
ageOfOnset

Neonatal/infancy
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Niemann+Pick+Disease,+Type+A+OR+%22Niemann+Pick+A%22+OR+(Niemann+Pick%5Bti%5D+type+A%5Btw%5D)
id_MeSH

D052536
id_MIM

257200
id_OMS

E75.2
id_Orpha

77292
id_SNOMEDCT

52165006
id_UMLS

C0268242
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_11105
prefLabel

Niemann-Pick disease type A
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0070111 DOID LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/52165006 SNOMEDCT LOOM
http://id.nlm.nih.gov/mesh/D052536 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0025143 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D052536 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009756 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009756 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009756 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009756 EFO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038566 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.700.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.700.500 RH-MESH LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12539 BIRNLEX LOOM
http://nanbyodata.jp/ontology/NANDO_2201206 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.700.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C126561 BERO LOOM
http://purl.jp/bio/4/id/200906032417381886 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D052536 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200061 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.700.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0003436 DERMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268242 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.700.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X40VP RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.730.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.730.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0070111 HOIP LOOM
http://purl.obolibrary.org/obo/DOID_0070111 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0070111 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0070111 TXPO LOOM
http://purl.obolibrary.org/obo/DOID_0070111 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0070111 FNS-H LOOM
http://purl.obolibrary.org/obo/DOID_0050442 CLO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.240 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.250.410.625.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.730.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126561 NCIT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15111 DERMLEX LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12539 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12539 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74010 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.700.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050442 NATPRO LOOM
http://purl.bioontology.org/ontology/OMIM/257200 OMIM LOOM