Human Phenotype Ontology 
Grandparent Node:
expandAbnormal large intestine morphology (HP:0002250)help
Grandparent Node:
expandAnorectal anomaly (HP:0012732)help
Parent Node:
expandAbnormal rectum morphology (HP:0002034)help
..Starting node
..expandMegarectum (HP:0025024)help
Term ID: 25024
Name: Megarectum
Synonym:
Definition: An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.
Comments:
Reference: HP:0025024
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNeoplasm of the rectum (HP:0100743) help
..expandRectal abscess (HP:0005224) help
..expandRectal atresia (HP:0025023) help
..expandRectal fistula (HP:0100590) help
..expandRectal prolapse (HP:0002035) 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:0025024HP:0025024Megarectum0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0025024HP:0025024Megarectum0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND


Genes (2) :INSR OTUD5

Diseases (2) :ORPHA:508 OMIM:301056
 

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