Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Congenital diaphragmatic hernia
Synonyms

CDH

Diaphragmatic agenesia
ID

http://www.limics.org/hrdo/rdfns#pat_id_506
ageOfDeath

Before age 5
ageOfOnset

Neonatal/infancy
altLabel

CDH

Diaphragmatic agenesia
id_MedDRA

10010439
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hernia%2C+diaphragmatic%5Bmh%5D+OR+Diaphragmatic+hernia%5Bti%5D%29+%28congenital%5Bsh%5D+OR+congenital%5Btw%5D%29
id_MeSH

C538080
id_MIM

142340

222400

306950

610187
id_OMS

Q79.0
id_Orpha

2140
id_SNOMEDCT

17190001
id_UMLS

C0235833
inheritance

Multigenic/multifactorial

Sporadic
patType

morphological anomaly
prefixIRI

hrdo:pat_id_506
prefLabel

Congenital diaphragmatic hernia
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_1
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000776 UPHENO LOOM
http://www.radlex.org/RID/RID34584 RADLEX LOOM
http://radlex.org/RID/RID34584 RADLEX LOOM
http://www.orpha.net/ORDO/Orphanet_2140 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200210 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU018825 OMIM LOOM
http://nanbyodata.jp/ontology/NANDO_2100040 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00001349 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0000776 HP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/17190001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q79.0 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C98893 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538080 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0005711 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005711 DOVES LOOM
http://purl.bioontology.org/ontology/ICD10/Q79.0 ICD10 LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Diaphragmatic_Hernia PEDTERM LOOM
http://purl.bioontology.org/ontology/LNC/LA20081-8 LOINC LOOM
http://purl.obolibrary.org/obo/DOID_3827 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3827 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3827 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3827 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3827 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3827 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3827 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3827 FNS-H LOOM
rgo:22246 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0235833 OCHV LOOM
http://purl.jp/bio/4/id/200906043753664618 IOBC LOOM
http://www.ebi.ac.uk/efo/EFO_0007216 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0007216 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0007216 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_1200911 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Diaphragmatic_Hernia CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98893 NCIT LOOM
http://www.semanticweb.org/mypc/ontologies/2022/11/USBirthOnto-22#CongenitalDiaphragmaticHernia BIRTHONTO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0235833 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010439 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCTV2/PG61.00 RCTV2 LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3827 NATPRO LOOM
rgo:02907 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCD/XE1MG RCD LOOM