Human Phenotype Ontology 
Grandparent Node:
expand
Functional abnormality of the gastrointestinal tract (HP:0012719)help
Parent Node:
expand
Gastrointestinal obstruction (HP:0004796)help
..Starting node
..expand
Functional intestinal obstruction (HP:0005249)help
Term ID: 5249
Name: Functional intestinal obstruction
Synonym:
Definition:
Comments:
Reference: HP:0005249
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEsophageal obstruction (HP:0005240) help
..expandIntestinal obstruction (HP:0005214) 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:0005249HP:0005249Functional intestinal obstruction0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent5769
HP:0005249HP:0005249Functional intestinal obstruction0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent7642
HP:0005249HP:0005249Functional intestinal obstruction0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent289
HP:0005249HP:0005249Functional intestinal obstruction0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive.12
HP:0005249HP:0005249Functional intestinal obstruction0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent196
HP:0005249HP:0005249Functional intestinal obstruction0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent1349
HP:0005249HP:0005249Functional intestinal obstruction0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent192
HP:0005249HP:0005249Functional intestinal obstruction0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent
HP:0005249HP:0005249Functional intestinal obstruction0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent504
HP:0005249HP:0005249Functional intestinal obstruction0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent911


Genes (10) :BRCA1 BRCA2 CDKN2A ERBB3 KRAS PALB2 PALLD RABL3 SMAD4 TP53

Diseases (2) :ORPHA:1333 OMIM:243180
 

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