Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

syndromic anorectal malformation
Synonyms

syndrome associated with anorectal malformation

syndromic anorectal malformation
Definitions

Anorectal malformations (ARMs) represent a complex group of congenital anomalies resulting from abnormal development of the hindgut, allantois and Mullerian duct resulting in complete or partial urorectal septal malformations. 50 % of cases are syndromic although many may have other associated anomalies. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
ID

http://www.ebi.ac.uk/efo/EFO_0700030
comment

Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
database_cross_reference

Orphanet:117573

UMLS:CN226645
definition

Anorectal malformations (ARMs) represent a complex group of congenital anomalies resulting from abnormal development of the hindgut, allantois and Mullerian duct resulting in complete or partial urorectal septal malformations. 50 % of cases are syndromic although many may have other associated anomalies.
has_exact_synonym

syndrome associated with anorectal malformation

syndromic anorectal malformation
label

syndromic anorectal malformation
preferred label

syndromic anorectal malformation
prefixIRI

efo:EFO_0700030
prefLabel

syndromic anorectal malformation
subClassOf

http://www.ebi.ac.uk/efo/EFO_0700116
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