Human Phenotype Ontology 
Grandparent Node:
expandMorphological abnormality of the gastrointestinal tract (HP:0012718)help
Parent Node:
expandAbnormal intestine morphology (HP:0002242)help
..Starting node
..expandAbnormality of intestinal smooth muscle morphology (HP:0030935)help
Term ID: 30935
Name: Abnormality of intestinal smooth muscle morphology
Synonym:
Definition: A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.
Comments:
Reference: HP:0030935
Genes and Diseases:
 
       Child Nodes:
........expandAtrophic muscularis propria (HP:0025149) help
........expandAbnormal layering of muscularis propria (HP:0030936) help
........expandFibrotic muscularis propria (HP:0030937) help

 Sister Nodes: 
..expandAbnormal large intestine morphology (HP:0002250) help
..expandAbnormality of enteric nervous system morphology (HP:0025028) help
..expandAbnormality of the small intestine (HP:0002244) help
..expandBowel diverticulosis (HP:0005222) help
..expandIntestinal atresia (HP:0011100) help
..expandIntestinal bleeding (HP:0002584) help
..expandIntestinal duplication (HP:0100668) help
..expandIntestinal edema (HP:0005225) help
..expandIntestinal fistula (HP:0100819) help
..expandIntestinal hypoplasia (HP:0005245) help
..expandIntestinal lymphangiectasia (HP:0002593) help
..expandIntestinal lymphoid nodular hyperplasia (HP:0011956) help
..expandIntestinal malrotation (HP:0002566) help
..expandIntestinal obstruction (HP:0005214) help
..expandIntestinal perforation (HP:0031368) help
..expandIntestinal polyp (HP:0005266) help
..expandIntestinal pseudo-obstruction (HP:0004389) help
..expandIntussusception (HP:0002576) help
..expandMalabsorption (HP:0002024) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandVolvulus (HP:0002580) 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:0030935HP:0030935Abnormality of intestinal smooth muscle morphology0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0030935HP:0030935Abnormality of intestinal smooth muscle morphology0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0030935HP:0030935Abnormality of intestinal smooth muscle morphology0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0030935HP:0030935Abnormality of intestinal smooth muscle morphology0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0030935HP:0030937Fibrotic muscularis propria1 CL E G H
HP:0030935HP:0030936Abnormal layering of muscularis propria1 CL E G H
HP:0030935HP:0025149Atrophic muscularis propria1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0030935HP:0025149Atrophic muscularis propria1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0030935HP:0025149Atrophic muscularis propria1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0030935HP:0025149Atrophic muscularis propria1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138


Genes (4) :LIG3 POLG RRM2B TYMP

Diseases (1) :ORPHA:298
 

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