Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Impairment in personality functioning (HP:0031466)help
..Starting node
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Personality disorder (HP:0012075)help
Term ID: 12075
Name: Personality disorder
Synonym:
Definition: An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.
Comments:
Reference: HP:0012075
Genes and Diseases:
 
       Child Nodes:
........expandBorderline personality disorder (HP:0012076) help
........expandHistrionic personality disorder (HP:0012077) help

 Sister Nodes: 
..expandAbnormal fear/anxiety-related behavior (HP:0100852) help
..expandAnhedonia (HP:0012154) help
..expandBipolar affective disorder (HP:0007302) help
..expandDepression (HP:0000716) help
..expandDisinhibition (HP:0000734) help
..expandEmotional lability (HP:0000712) help
..expandHostility (HP:0031473) help
..expandInappropriate behavior (HP:0000719) help
..expandLow self esteem (HP:0031469) help
..expandNegative affectivity (HP:0031467) help
..expandSeparation insecurity (HP:0031468) 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:0012075HP:0012075Personality disorder0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0012075HP:0012075Personality disorder0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0012075HP:0012075Personality disorder0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0012075HP:0012075Personality disorder0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0012075HP:0012075Personality disorder0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0012075HP:0012075Personality disorder0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0012075HP:0012075Personality disorder0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent16
HP:0012075HP:0012075Personality disorder0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0012075HP:0012075Personality disorder0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5HP:0040283 - Occasional321
HP:0012075HP:0012075Personality disorder0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent1
HP:0012075HP:0012075Personality disorder0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0012075HP:0012075Personality disorder0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0012075HP:0012075Personality disorder0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0012075HP:0012075Personality disorder0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent49
HP:0012075HP:0012075Personality disorder0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0012075HP:0012075Personality disorder0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent47
HP:0012075HP:0012075Personality disorder0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0012075HP:0012075Personality disorder0XK CL E G H750412811OMIM:300842Mcleod syndrome.8
HP:0012075HP:0012077Histrionic personality disorder1 CL E G H
HP:0012075HP:0012076Borderline personality disorder1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0012075HP:0012076Borderline personality disorder1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20


Genes (18) :CACNA1A CBS CHD2 CUX2 CYP27A1 DNM1 DRD2 GABRB3 KCNT1 KCTD17 MAPK10 RORA SCN1A SGCE SPG21 TOR1A WAC XK

Diseases (9) :ORPHA:2382 OMIM:236200 ORPHA:909 ORPHA:36899 OMIM:615005 OMIM:618060 ORPHA:101001 ORPHA:466950 OMIM:300842
 

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