Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Motor stereotypy (HP:0000733)help
..Starting node
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Punding (HP:0030218)help
Term ID: 30218
Name: Punding
Synonym:
Definition: Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.
Comments:
Reference: HP:0030218
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEye poking (HP:0001483) help
..expandRecurrent hand flapping (HP:0100023) help
..expandRepetitive compulsive behavior (HP:0008762) help
..expandStereotypical body rocking (HP:0012172) help
..expandStereotypical hand wringing (HP:0012171) help
..expandTongue thrusting (HP:0100703) 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:0030218HP:0030218Punding0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0030218HP:0030218Punding0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0030218HP:0030218Punding0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0030218HP:0030218Punding0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0030218HP:0030218Punding0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0030218HP:0030218Punding0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255


Genes (6) :CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1

Diseases (1) :ORPHA:64280
 

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