Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	Hirschsprung disease
Synonyms	congenital intestinal aganglionosis pelvirectal achalasia Hirschsprung's disease Hirschsprung disease susceptibility aganglionic megacolon congenital megacolon HSCR Hirschsprung disease macrocolon
Definitions	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
ID	http://purl.obolibrary.org/obo/MONDO_0018309
disease arises from feature	http://purl.obolibrary.org/obo/MONDO_0001273
has characteristic	http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym	congenital intestinal aganglionosis pelvirectal achalasia Hirschsprung's disease Hirschsprung disease susceptibility aganglionic megacolon congenital megacolon HSCR Hirschsprung disease
has_related_synonym	macrocolon
label	Hirschsprung disease
prefixIRI	MONDO:0018309
prefLabel	Hirschsprung disease
textual definition	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0021189 http://purl.obolibrary.org/obo/MONDO_0021635 http://purl.obolibrary.org/obo/MONDO_0003847

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018309	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018309	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018309	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018309	EFO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200945	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200903	NANDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036885	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006627	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34700	NCIT	LOOM
http://localhost/plosthes.2017-1#3436	PLOSTHES	LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LB16.1	VODANADISEASES	LOOM
http://purl.bioontology.org/ontology/MESH/D006627	MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6151	OCHV	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_647	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.198.439	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003463	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIT_0007786	OMIT	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hirschsprung_disease	RPO	LOOM
http://www.orpha.net/ORDO/Orphanet_388	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C34700	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.158.701.439	RH-MESH	LOOM
urn:agi-folder:hirschsprung_disease	BPT	LOOM
http://www.gamuts.net/entity#Hirschsprung_disease	GAMUTS	LOOM
http://purl.jp/bio/4/id/200906056031860646	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.314.439	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1087	IFAR	LOOM