Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
expand
Abnormal emotion/affect behavior (HP:0100851)help
..Starting node
..expand
Happy demeanor (HP:0040082)help
Term ID: 40082
Name: Happy demeanor
Synonym: Happy demeanor; Happy demeanour
Definition: A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.
Comments:
Reference: HP:0040082
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aggressive, impulsive or violent behavior (HP:0006919) help
..expandConspicuously happy disposition (HP:0100024) help
..expandDiminished motivation (HP:0000745) help
..expandEmotional blunting (HP:0030213) help
..expandEuphoria (HP:0031844) help
..expandIrritability (HP:0000737) help
..expandobsolete Mood changes (HP:0001575) help
..expandobsolete Mood swings (HP:0000720) help
..expandSuicidal ideation (HP:0031589) help
..expandUnhappy demeanor (HP:0031588) 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:0040082HP:0040082Happy demeanor0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiencyHP:0040283 - Occasional118
HP:0040082HP:0040082Happy demeanor0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0040082HP:0040082Happy demeanor0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0040082HP:0040082Happy demeanor0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0040082HP:0040082Happy demeanor0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0040082HP:0040082Happy demeanor0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0040082HP:0040082Happy demeanor0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0040082HP:0040082Happy demeanor0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0040082HP:0040082Happy demeanor0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0040082HP:0040082Happy demeanor0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0040082HP:0040082Happy demeanor0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0040082HP:0040082Happy demeanor0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0040082HP:0040082Happy demeanor0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0040082HP:0040082Happy demeanor0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0040082HP:0040082Happy demeanor0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0040082HP:0040082Happy demeanor0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0040082HP:0040082Happy demeanor0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0040082HP:0040082Happy demeanor0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0040082HP:0040082Happy demeanor0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0040082HP:0040082Happy demeanor0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0040082HP:0040082Happy demeanor0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0040082HP:0040082Happy demeanor0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0040082HP:0040082Happy demeanor0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040281 - Very frequent362
HP:0040082HP:0040082Happy demeanor0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040281 - Very frequent362
HP:0040082HP:0040082Happy demeanor0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (19) :ADSL ASXL1 ATP10A DYRK1A GRIK2 HDAC8 OCA2 PRKAR1B RAB11B SATB2 SLC9A6 SNRPN TASP1 TBC1D23 TCF4 UBE3A WDR26 ZEB2 ZSWIM6

Diseases (22) :OMIM:103050 ORPHA:97297 ORPHA:411515 OMIM:614104 OMIM:619580 OMIM:300882 ORPHA:98794 OMIM:619680 OMIM:617807 OMIM:612313 ORPHA:576283 OMIM:300243 ORPHA:177907 OMIM:618950 OMIM:617695 ORPHA:2896 ORPHA:411511 OMIM:617616 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:617865
 

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