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:
Behavioral abnormality (HP:0000708)

Parent Node:
Abnormal social behavior (HP:0012433)

..Starting node
..Overfriendliness (HP:0100025)

Term ID:

100025

Name:

Overfriendliness

Synonym:

Overfriendliness

Definition:

A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.

Comments:

Reference:

HP:0100025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed social development (HP:0012434)

Impaired social interactions (HP:0000735)

Impaired social reciprocity (HP:0012760)

Shyness (HP:0100962)

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:0100025	HP:0100025	Overfriendliness	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0100025	HP:0100025	Overfriendliness	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0100025	HP:0100025	Overfriendliness	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0100025	HP:0100025	Overfriendliness	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100025	HP:0100025	Overfriendliness	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100025	HP:0100025	Overfriendliness	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100025	HP:0100025	Overfriendliness	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent	283
HP:0100025	HP:0100025	Overfriendliness	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent	283
HP:0100025	HP:0100025	Overfriendliness	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0100025	HP:0100025	Overfriendliness	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100025	HP:0100025	Overfriendliness	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0100025	HP:0100025	Overfriendliness	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0100025	HP:0100025	Overfriendliness	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0100025	HP:0100025	Overfriendliness	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0100025	HP:0100025	Overfriendliness	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0100025	HP:0100025	Overfriendliness	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0100025	HP:0100025	Overfriendliness	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent

Genes (27) :BAZ1B BCL7B BUD23 CHAMP1 CLIP2 DDX59 DNAJC30 EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KANSL1 LIMK1 MED13L METTL27 MLXIPL NCF1 PIGH POGZ RFC2 SMARCA2 STX1A TBL2 TMEM270 VPS37D

Diseases (9) :ORPHA:904 OMIM:616579 OMIM:174300 ORPHA:363958 ORPHA:363965 ORPHA:369891 OMIM:618010 OMIM:616364 OMIM:619293

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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