Human Phenotype Ontology

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:
Abnormal social behavior (HP:0012433)

Grandparent Node:
Autistic behavior (HP:0000729)

Parent Node:
Impaired social interactions (HP:0000735)

..Starting node
..No social interaction (HP:0008763)

Term ID:

8763

Name:

No social interaction

Synonym:

No social interaction

Definition:

Comments:

Reference:

HP:0008763

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal nonverbal communicative behavior (HP:0000758)

Impaired ability to form peer relationships (HP:0000728)

Lack of peer relationships (HP:0002332)

Poor eye contact (HP:0000817)

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:0008763	HP:0008763	No social interaction	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0008763	HP:0008763	No social interaction	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0008763	HP:0008763	No social interaction	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0008763	HP:0008763	No social interaction	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0008763	HP:0008763	No social interaction	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0008763	HP:0008763	No social interaction	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1

Genes (6) :ACOX1 EXTL3 GFM2 IQSEC2 SH2B1 TRIM8

Diseases (6) :OMIM:264470 ORPHA:508533 ORPHA:565624 OMIM:309530 ORPHA:329249 OMIM:619428

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