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:
Autistic behavior (HP:0000729)

..Starting node
..Restrictive behavior (HP:0000723)

Term ID:

723

Name:

Restrictive behavior

Synonym:

Restricted behavior; Restricted behaviour; Restrictive behavior, interests, and activities; Restrictive behaviour

Definition:

Behavior characterized by an abnormal limitation to few interests and activities.

Comments:

Reference:

HP:0000723

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alexithymia (HP:0031433)

Autism (HP:0000717)

Autism with high cognitive abilities (HP:0000753)

Impaired social interactions (HP:0000735)

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:0000723	HP:0000723	Restrictive behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0000723	HP:0000723	Restrictive behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0000723	HP:0000723	Restrictive behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0000723	HP:0000723	Restrictive behavior	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0000723	HP:0000723	Restrictive behavior	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0000723	HP:0000723	Restrictive behavior	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0000723	HP:0000723	Restrictive behavior	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0000723	HP:0000723	Restrictive behavior	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0000723	HP:0000723	Restrictive behavior	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000723	HP:0000723	Restrictive behavior	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0000723	HP:0000723	Restrictive behavior	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000723	HP:0000723	Restrictive behavior	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0000723	HP:0000723	Restrictive behavior	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0000723	HP:0000723	Restrictive behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0000723	HP:0000723	Restrictive behavior	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0000723	HP:0000723	Restrictive behavior	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0000723	HP:0000723	Restrictive behavior	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000723	HP:0000723	Restrictive behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0000723	HP:0000723	Restrictive behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000723	HP:0000723	Restrictive behavior	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0000723	HP:0000723	Restrictive behavior	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63

Genes (18) :C9ORF72 CDKL5 CHMP2B GABBR2 GRN MAPT MECP2 NLGN3 NLGN4X NTNG1 PSEN1 SMC1A SNRPN SPTBN1 SQSTM1 TMEM106B TREM2 VCP

Diseases (9) :ORPHA:275864 ORPHA:3095 OMIM:300496 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 OMIM:209850 OMIM:619475

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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