Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Congenital hypothyroidism
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_760
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_MedDRA

10010510
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cretinism%5Bti%5D+OR+cretinism%5Bmh%5D+OR+Congenital+hypothyroidism%5Btw%5D
id_MeSH

D003409
id_OMS

E00

E03.0

E03.1
id_Orpha

442
id_SNOMEDCT

190268003
inheritance

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_760
prefLabel

Congenital hypothyroidism
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_12078

http://www.limics.org/hrdo/rdfns#pat_id_18177
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018612 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003409 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Hypothyroidism CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018612 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/C03..00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C03.. RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010510 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0004704 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.297.155 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.132.256 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000851 HP LOOM
http://purl.obolibrary.org/obo/HP_0000851 UPHENO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 LOINC LOOM
http://nanbyodata.jp/ontology/NANDO_2200333 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003987 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.625 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.347 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221001 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190268003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD9CM/243 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037004 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.874.482.281 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_442 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0342200 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/T86004 ICPC2P LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050328 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050328 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050328 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050328 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050328 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C26734 BERO LOOM
rgo:29831 GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D003409 MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Hypothyroidism PEDTERM LOOM