Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hirschsprung disease

Synonyms

Congenital intestinal aganglionosis

Definitions

A rare 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://www.orpha.net/ORDO/Orphanet_388

alternative_term

Congenital intestinal aganglionosis

Colonic aganglionosis

Aganglionic megacolon

HSCR

definition

A rare 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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388

has_age_of_onset

Childhood

Infancy

Neonatal

has_inheritance

Not applicable

Multigenic/multifactorial

Autosomal recessive

Autosomal dominant

hasDbXref

OMIM:611644

OMIM:142623

OMIM:606875

OMIM:606874

OMIM:613712

OMIM:613711

OMIM:608462

OMIM:600155

OMIM:600156

MedDRA:10010539

ICD-10:Q43.1

UMLS:C0019569

MeSH:D006627

ICD-11:LB16.1

label

Hirschsprung disease

notation

ORPHA:388

part_of

http://www.orpha.net/ORDO/Orphanet_104009

prefixIRI

ORDO:Orphanet_388

prefLabel

Hirschsprung disease

present_in

United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000

Taiwan, Province of China AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000

Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000

Worldwide AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_104009

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_388 EFO SAME_URI
http://nanbyodata.jp/ontology/NANDO_2200945 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200903 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018309 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018309 EFO 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://purl.obolibrary.org/obo/MONDO_0018309 DOVES LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hirschsprung_disease RPO 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
http://www.gamuts.net/entity#Hirschsprung_disease GAMUTS REST