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)

Parent Node:
Autistic behavior (HP:0000729)

..Starting node
..Impaired social interactions (HP:0000735)

Term ID:

735

Name:

Impaired social interactions

Synonym:

Impaired social interaction; Impaired social interactions; Poor social interactions

Definition:

Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.

Comments:

Reference:

HP:0000735

Genes and Diseases:

Child Nodes:

........

Impaired ability to form peer relationships (HP:0000728)

........

Impaired use of nonverbal behaviors (HP:0000758)

........

Poor eye contact (HP:0000817)

........

Lack of peer relationships (HP:0002332)

........

No social interaction (HP:0008763)

Sister Nodes:

Alexithymia (HP:0031433)

Autism (HP:0000717)

Autism with high cognitive abilities (HP:0000753)

Restrictive behavior (HP:0000723)

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:0000735	HP:0000735	Impaired social interactions	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0000735	HP:0000735	Impaired social interactions	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent	47
HP:0000735	HP:0000735	Impaired social interactions	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent	41
HP:0000735	HP:0000735	Impaired social interactions	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0000735	HP:0000735	Impaired social interactions	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0000735	HP:0000735	Impaired social interactions	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0000735	HP:0000735	Impaired social interactions	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000735	HP:0000735	Impaired social interactions	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000735	HP:0000735	Impaired social interactions	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0000735	HP:0000735	Impaired social interactions	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0000735	HP:0000735	Impaired social interactions	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0000735	HP:0000735	Impaired social interactions	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000735	HP:0000735	Impaired social interactions	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000735	HP:0000735	Impaired social interactions	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0000735	HP:0000735	Impaired social interactions	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0000735	HP:0000735	Impaired social interactions	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0000735	HP:0000735	Impaired social interactions	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000735	HP:0000735	Impaired social interactions	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0000735	HP:0000735	Impaired social interactions	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0000735	HP:0000735	Impaired social interactions	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0000735	HP:0000735	Impaired social interactions	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0000735	HP:0000735	Impaired social interactions	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0000735	HP:0000735	Impaired social interactions	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0000735	HP:0000735	Impaired social interactions	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent	119
HP:0000735	HP:0000735	Impaired social interactions	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0000735	HP:0000735	Impaired social interactions	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0000735	HP:0000735	Impaired social interactions	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000735	HP:0000735	Impaired social interactions	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000735	HP:0000735	Impaired social interactions	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0000735	HP:0000735	Impaired social interactions	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3		950
HP:0000735	HP:0000735	Impaired social interactions	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000735	HP:0000735	Impaired social interactions	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000735	HP:0000735	Impaired social interactions	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000735	HP:0000735	Impaired social interactions	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0000735	HP:0000735	Impaired social interactions	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040281 - Very frequent	1952
HP:0000735	HP:0000735	Impaired social interactions	0	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20	.	4
HP:0000735	HP:0000735	Impaired social interactions	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1		24
HP:0000735	HP:0000735	Impaired social interactions	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1		24
HP:0000735	HP:0000735	Impaired social interactions	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2		57
HP:0000735	HP:0000735	Impaired social interactions	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2		57
HP:0000735	HP:0000735	Impaired social interactions	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0000735	HP:0000735	Impaired social interactions	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0000735	HP:0000735	Impaired social interactions	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0000735	HP:0000735	Impaired social interactions	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0000735	HP:0000735	Impaired social interactions	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0000735	HP:0000735	Impaired social interactions	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0000735	HP:0000735	Impaired social interactions	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0000735	HP:0000735	Impaired social interactions	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0000735	HP:0000735	Impaired social interactions	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0000735	HP:0000735	Impaired social interactions	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0000735	HP:0000735	Impaired social interactions	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0000735	HP:0000735	Impaired social interactions	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000735	HP:0000735	Impaired social interactions	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0000735	HP:0000735	Impaired social interactions	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000735	HP:0000735	Impaired social interactions	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0000735	HP:0000735	Impaired social interactions	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0000735	HP:0000735	Impaired social interactions	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0000735	HP:0000735	Impaired social interactions	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0000735	HP:0000735	Impaired social interactions	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0000735	HP:0000735	Impaired social interactions	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1		37
HP:0000735	HP:0000735	Impaired social interactions	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000735	HP:0000735	Impaired social interactions	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000735	HP:0000735	Impaired social interactions	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0000735	HP:0000735	Impaired social interactions	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000735	HP:0000735	Impaired social interactions	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0000735	HP:0000735	Impaired social interactions	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0000735	HP:0000735	Impaired social interactions	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000735	HP:0000735	Impaired social interactions	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000735	HP:0000735	Impaired social interactions	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000735	HP:0000735	Impaired social interactions	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0000735	HP:0000735	Impaired social interactions	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000735	HP:0000735	Impaired social interactions	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0000735	HP:0000735	Impaired social interactions	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000735	HP:4000085	Reduced object sharing	1	CL E G H
HP:0000735	HP:4000084	Reduced sharing of interests	1	CL E G H
HP:0000735	HP:4000083	Absence of interest in peers	1	CL E G H
HP:0000735	HP:4000082	Reduced collaborative play	1	CL E G H
HP:0000735	HP:4000080	Lack of social initiations	1	CL E G H
HP:0000735	HP:0008763	No social interaction	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000735	HP:0002332	Lack of peer relationships	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0000735	HP:0002332	Lack of peer relationships	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0000735	HP:0008763	No social interaction	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000735	HP:0008763	No social interaction	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0000735	HP:0008763	No social interaction	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0000735	HP:0002332	Lack of peer relationships	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0000735	HP:0002332	Lack of peer relationships	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0000735	HP:0000728	Impaired ability to form peer relationships	1	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000735	HP:0002332	Lack of peer relationships	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0000735	HP:0000728	Impaired ability to form peer relationships	1	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000735	HP:0002332	Lack of peer relationships	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0000735	HP:0002332	Lack of peer relationships	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0000735	HP:0008763	No social interaction	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0000735	HP:0002332	Lack of peer relationships	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0000735	HP:0002332	Lack of peer relationships	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0000735	HP:0000728	Impaired ability to form peer relationships	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0000735	HP:0002332	Lack of peer relationships	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0000735	HP:0008763	No social interaction	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1

Genes (64) :ACOX1 ADNP ALG11 AP2M1 CDKL5 CHD2 CHMP1A CLTC CNTNAP2 CREBBP DLK1 DNAJC6 EP300 EXTL3 FMR1 FOXG1 GABBR2 GFM2 GRIN1 HERC1 HTRA2 IQSEC2 LINGO1 LRRK2 MAN2C1 MBD5 MECP2 MED12 MEG3 NEXMIF NF1 NLGN1 NLGN3 NLGN4X NTNG1 OPHN1 PARK7 PINK1 PLA2G6 PODXL POLA1 PRKN PUS3 RTL1 SCN1A SH2B1 SHANK3 SLC2A1 SLC6A1 SLC6A8 SMC1A SNCA SNRPN SPTBN1 SYNGAP1 SYNJ1 TBR1 TET3 TRIM8 TUBB3 UCHL1 VPS13C WARS2 ZMYND11

Diseases (51) :OMIM:264470 ORPHA:404448 ORPHA:280071 ORPHA:1942 ORPHA:3095 OMIM:614961 OMIM:617854 OMIM:610042 ORPHA:353281 ORPHA:353277 ORPHA:254531 ORPHA:2828 ORPHA:353284 ORPHA:508533 ORPHA:449291 OMIM:613454 ORPHA:565624 OMIM:617820 ORPHA:457359 OMIM:309530 ORPHA:397933 OMIM:618103 OMIM:619775 OMIM:156200 OMIM:300496 OMIM:309520 OMIM:300912 ORPHA:97685 OMIM:618830 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 ORPHA:137831 OMIM:256600 ORPHA:163976 OMIM:617051 ORPHA:261197 ORPHA:329249 OMIM:606232 OMIM:300352 OMIM:209850 ORPHA:177907 OMIM:619475 ORPHA:544254 OMIM:606053 OMIM:618798 OMIM:619428 ORPHA:300570 OMIM:619738 OMIM:616083

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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