Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of enteric nervous system morphology (HP:0025028)help
Parent Node:
expandAbnormality of enteric ganglion morphology (HP:0004362)help
..Starting node
..expandTotal intestinal aganglionosis (HP:0005241)help
Term ID: 5241
Name: Total intestinal aganglionosis
Synonym:
Definition: A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
Comments:
Reference: HP:0005241
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAganglionic megacolon (HP:0002251) help
..expandAganglionosis of the small intestine (HP:0011464) help
..expandGanglioneuromatosis (HP:0025151) help
..expandHypoganglionosis (HP:0025150) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005241HP:0005241Total intestinal aganglionosis0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55


Genes (1) :EDNRB

Diseases (1) :OMIM:600501
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.