Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

imperforate anus

Synonyms

anorectal malformations

anal stenosis

anal atresia

imperforate anus

congenital atresia of anus

anus, imperforate

congenital or infantile occlusion of anus

Definitions

A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.

ID

http://purl.obolibrary.org/obo/MONDO_0001046

database_cross_reference

OMIM:301800

OMIM:207500

NCIT:C84784

SCTID:204731006

MESH:D001006

DOID:10488

GARD:6769

NORD:1299

definition

A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.

exactMatch

http://purl.obolibrary.org/obo/DOID_10488

http://identifiers.org/mesh/D001006

https://omim.org/entry/301800

https://omim.org/entry/207500

http://purl.obolibrary.org/obo/NCIT_C84784

http://identifiers.org/snomedct/204731006

has_exact_synonym

anal atresia

imperforate anus

congenital atresia of anus

anus, imperforate

congenital or infantile occlusion of anus

has_related_synonym

anorectal malformations

anal stenosis

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6876

id

MONDO:0001046

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

imperforate anus

notation

MONDO:0001046

preferred label

imperforate anus

prefLabel

imperforate anus

subClassOf

http://www.ebi.ac.uk/efo/EFO_0009660

http://purl.obolibrary.org/obo/MONDO_0021147

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