Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Inappropriate behavior (HP:0000719)

Parent Node:
Inappropriate laughter (HP:0000748)

..Starting node
..Paroxysmal bursts of laughter (HP:0000749)

Term ID:

749

Name:

Paroxysmal bursts of laughter

Synonym:

Paroxysmal laughter

Definition:

Comments:

Reference:

HP:0000749

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0000749	HP:0000749	Paroxysmal bursts of laughter	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6

Genes (9) :ATRX GLI3 GRIK2 HSD17B10 MBD5 NTNG2 SNRPN UBE3A WDR4

Diseases (8) :OMIM:309580 ORPHA:672 OMIM:619580 ORPHA:391428 ORPHA:228402 OMIM:618718 OMIM:105830 OMIM:618347

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

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