Preferred Name

Hirschsprung disease

Synonyms

Congenital intestinal aganglionosis

ID

http://www.limics.org/hrdo/rdfns#pat_id_647

ageOfDeath

Cualquier edad

Alle Alter

Qualquer idade

Tout âge

Any age

Qualsiasi età

Any age

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Congenital intestinal aganglionosis

Mégacolon aganglionique

Aganglionic Megacolon

HSCR

Megacolon agangliónico

Aganglionosis intestinal congénita

Aganglionose intestinale congénitale

HSCR

id_MedDRA

10010539

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hirschsprung+disease%22%5BMeSH+Terms%5D+OR+%28Hirschsprung+Disease%5BText+Word%5D+NOT+medline%5Btw%5D%29

id_MeSH

D006627

id_MIM

142623

600155

600156

606874

606875

608462

611644

613711

613712

id_OMS

Q43.1

id_Orpha

388

id_SNOMEDCT

204739008

360436002

id_UMLS

C0019569

inheritance

Autosómico recesivo

Multigénico/multifactorial

Autosomal recessive

Autosomal dominant

Autosomique dominant

Esporádico

Autossómica recessiva

Multigenica/multifattoriale

Autosomica recessiva

Autosomal dominant

Multigenic/multifactorial

Polygénique/polyfactoriel

Autosomica dominante

Multigénica/multifactorial

Autosomal recessive

Autosómico dominate

Sporadic

Sporadisch

Sporadique

Autosomal-dominant

Sporadica

Autosomique récessif

Sporadic

Autossómica dominante

Autosomal-rezessiv

Multigenic/multifactorial

Esporádica

Polygenetisch/Multifaktoriell

patType

disease

prefixIRI

hrdo:pat_id_647

prefLabel

Hirschsprung disease

Enfermedad de Hirschsprung

Malattia di Hirschsprung

Maladie de Hirschsprung

Doença de Hirschsprung

Hirschsprung-Krankheit

prevalence

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

1-5 / 10 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11

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Delete Mapping To Ontology Source
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://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://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