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 | ||
exactMatch |
http://purl.obolibrary.org/obo/NCIT_C101074 |
|
has_exact_synonym |
total intestinal aganglionosis aganglionosis, total intestinal |
|
id |
MONDO:0008738 |
|
in_subset | ||
label |
aganglionosis, total intestinal |
|
notation |
MONDO:0008738 |
|
preferred label |
aganglionosis, total intestinal |
|
prefLabel |
aganglionosis, total intestinal |
|
subClassOf | ||
excluded_subClassOf |