Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

aganglionosis, total intestinal

Synonyms

total intestinal aganglionosis

aganglionosis, total intestinal

Definitions

A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.

ID

http://purl.obolibrary.org/obo/MONDO_0008738

database_cross_reference

NCIT:C101074

MESH:C538058

NANDO:1200460

OMIM:202550

NANDO:2200948

definition

A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.

disease shares features of

http://purl.obolibrary.org/obo/MONDO_0018309

exactMatch

http://purl.obolibrary.org/obo/NCIT_C101074

http://identifiers.org/mesh/C538058

https://omim.org/entry/202550

has_exact_synonym

total intestinal aganglionosis

aganglionosis, total intestinal

id

MONDO:0008738

in_subset

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

label

aganglionosis, total intestinal

notation

MONDO:0008738

preferred label

aganglionosis, total intestinal

prefLabel

aganglionosis, total intestinal

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0018309

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