Human Phenotype Ontology 
Grandparent Node:
expand
Impairment in personality functioning (HP:0031466)help
Parent Node:
expand
Inappropriate behavior (HP:0000719)help
..Starting node
..expand
Inappropriate laughter (HP:0000748)help
Term ID: 748
Name: Inappropriate laughter
Synonym: Inappropriate laughter
Definition:
Comments:
Reference: HP:0000748
Genes and Diseases:
 
       Child Nodes:
........expandParoxysmal bursts of laughter (HP:0000749) help

 Sister Nodes: 
..expandInappropriate crying (HP:0030215) help
..expandInappropriate sexual behavior (HP:0008768) help
..expandSocially inappropriate behavior (HP:0030220) 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:0000748HP:0000748Inappropriate laughter0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000748HP:0000748Inappropriate laughter0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0000748HP:0000748Inappropriate laughter0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000748HP:0000748Inappropriate laughter0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0000748HP:0000748Inappropriate laughter0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0000748HP:0000748Inappropriate laughter0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0000748HP:0000748Inappropriate laughter0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000748HP:0000748Inappropriate laughter0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0000748HP:0000748Inappropriate laughter0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0000748HP:0000748Inappropriate laughter0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000748HP:0000748Inappropriate laughter0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000748HP:0000748Inappropriate laughter0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000748HP:0000748Inappropriate laughter0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0000748HP:0000748Inappropriate laughter0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000748HP:0000748Inappropriate laughter0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000748HP:0000748Inappropriate laughter0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000748HP:0000748Inappropriate laughter0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000748HP:0000748Inappropriate laughter0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0000748HP:0000748Inappropriate laughter0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000748HP:0000748Inappropriate laughter0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0000748HP:0000748Inappropriate laughter0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000748HP:0000748Inappropriate laughter0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0000748HP:0000748Inappropriate laughter0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000748HP:0000748Inappropriate laughter0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000748HP:0000748Inappropriate laughter0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000748HP:0000748Inappropriate laughter0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0000748HP:0000748Inappropriate laughter0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000748HP:0000748Inappropriate laughter0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000748HP:0000748Inappropriate laughter0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000748HP:0000748Inappropriate laughter0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040283 - Occasional12
HP:0000748HP:0000748Inappropriate laughter0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0000748HP:0000748Inappropriate laughter0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0000748HP:0000748Inappropriate laughter0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000748HP:0000748Inappropriate laughter0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0000748HP:0000748Inappropriate laughter0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000748HP:0000748Inappropriate laughter0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000748HP:0000748Inappropriate laughter0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0000748HP:0000748Inappropriate laughter0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0000748HP:0000748Inappropriate laughter0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000748HP:0000748Inappropriate laughter0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0000748HP:0000749Paroxysmal bursts of laughter1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000748HP:0000749Paroxysmal bursts of laughter1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000748HP:0000749Paroxysmal bursts of laughter1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000748HP:0000749Paroxysmal bursts of laughter1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0000748HP:0000749Paroxysmal bursts of laughter1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000748HP:0000749Paroxysmal bursts of laughter1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000748HP:0000749Paroxysmal bursts of laughter1SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0000748HP:0000749Paroxysmal bursts of laughter1UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0000748HP:0000749Paroxysmal bursts of laughter1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6


Genes (30) :ADSL ATP10A ATRX CDKL5 CSF1R DYRK1A GABBR2 GATAD2B GLI3 GRIK2 HSD17B10 KANSL1 MAPT MBD5 MECP2 NOVA2 NTNG1 NTNG2 OCA2 PDE2A PGAP1 PIGS PSEN1 SLC6A17 SLC9A6 SMC1A SNRPN TBC1D2B UBE3A WDR4

Diseases (30) :OMIM:103050 ORPHA:411515 OMIM:309580 ORPHA:3095 ORPHA:505652 OMIM:618476 OMIM:614104 OMIM:615074 ORPHA:363686 ORPHA:672 OMIM:619580 ORPHA:391428 ORPHA:363958 ORPHA:363965 OMIM:600274 OMIM:172700 ORPHA:228402 OMIM:156200 OMIM:618859 OMIM:618718 ORPHA:98794 OMIM:619150 OMIM:615802 OMIM:618143 ORPHA:457212 ORPHA:85278 OMIM:105830 OMIM:619323 ORPHA:411511 OMIM:618347
 

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