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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Repetitive compulsive behavior (HP:0008762)help
Term ID: 8762
Name: Repetitive compulsive behavior
Synonym: Repetitive compulsive behavior; Repetitive compulsive behaviour
Definition:
Comments:
Reference: HP:0008762
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEye poking (HP:0001483) help
..expandPunding (HP:0030218) help
..expandRecurrent hand flapping (HP:0100023) 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:0008762HP:0008762Repetitive compulsive behavior0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0008762HP:0008762Repetitive compulsive behavior0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0008762HP:0008762Repetitive compulsive behavior0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0008762HP:0008762Repetitive compulsive behavior0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0008762HP:0008762Repetitive compulsive behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0008762HP:0008762Repetitive compulsive behavior0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0008762HP:0008762Repetitive compulsive behavior0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0008762HP:0008762Repetitive compulsive behavior0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008762HP:0008762Repetitive compulsive behavior0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0008762HP:0008762Repetitive compulsive behavior0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0008762HP:0008762Repetitive compulsive behavior0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0008762HP:0008762Repetitive compulsive behavior0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8


Genes (12) :AUTS2 DNAJC19 FOXP1 GRN IFNG MECP2 NR2F1 SPTBN1 SYT1 TSC1 TSC2 WDR26

Diseases (10) :ORPHA:352490 ORPHA:66634 ORPHA:391372 OMIM:607485 ORPHA:805 OMIM:300260 ORPHA:401777 OMIM:619475 ORPHA:522077 ORPHA:513456
 

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