Human Phenotype Ontology

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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
..Impaired ability to form peer relationships (HP:0000728)

Term ID:

728

Name:

Impaired ability to form peer relationships

Synonym:

Definition:

Comments:

Reference:

HP:0000728

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal nonverbal communicative behavior (HP:0000758)

Lack of peer relationships (HP:0002332)

No social interaction (HP:0008763)

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:0000728	HP:0000728	Impaired ability to form peer relationships	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0000728	HP:0000728	Impaired ability to form peer relationships	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0000728	HP:0000728	Impaired ability to form peer relationships	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37

Genes (3) :NLGN3 NLGN4X SNRPN

Diseases (3) :OMIM:300494 OMIM:300497 OMIM:209850

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