Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Multiple endocrine neoplasia type 2A
Synonyms

Sipple syndrome

MEN2A

PTC syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_19538
ageOfDeath

Normal
ageOfOnset

Childhood
altLabel

Sipple syndrome

MEN2A

PTC syndrome
id_Medline

neant
id_MeSH

D018813
id_MIM

171400
id_OMS

D44.8
id_Orpha

247698
id_UMLS

C0025268
inheritance

Autosomal dominant
patType

clinical subtype
prefixIRI

hrdo:pat_id_19538
prefLabel

Multiple endocrine neoplasia type 2A
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_2
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008234 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.630.505 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C3226 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0018960 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3226 NCIT LOOM
http://www.semanticweb.org/hx-jta/ontologies/thyroid_cancer_ontology#Multiple_Endocrine_Neoplasia_Type_2A TCO LOOM
http://www.orpha.net/ORDO/Orphanet_247698 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/721188000 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018813 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050430 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050430 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050430 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050430 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.630.505 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Endocrine_Neoplasia_Type_II CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050430 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.322.400.505 RH-MESH LOOM
http://purl.jp/bio/4/id/200906076458925944 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073148 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D018813 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.344.400.505 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2201052 NANDO LOOM
http://id.nlm.nih.gov/mesh/D018813 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.600.505 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038153 PMAPP-PMO LOOM