Human Phenotype Ontology 
Grandparent Node:
expandAbnormal intestine morphology (HP:0002242)help
Grandparent Node:
expandGastrointestinal atresia (HP:0002589)help
Parent Node:
expandAbnormal rectum morphology (HP:0002034)help
Parent Node:
expandIntestinal atresia (HP:0011100)help
..Starting node
..expandRectal atresia (HP:0025023)help
Term ID: 25023
Name: Rectal atresia
Synonym: Atresia of the rectum
Definition: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.
Comments:
Reference: HP:0025023
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandColonic atresia (HP:0010448) help
..expandDuodenal atresia (HP:0002247) help
..expandIleal atresia (HP:0011102) help
..expandJejunal atresia (HP:0005235) help
..expandMultiple small bowel atresias (HP:0004797) 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:0025023HP:0025023Rectal atresia0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0025023HP:0025023Rectal atresia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0025023HP:0025023Rectal atresia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26


Genes (3) :RAD51C TCTN3 TTC7A

Diseases (3) :OMIM:613390 ORPHA:2753 OMIM:243150
 

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