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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Abnormal social behavior (HP:0012433)

Parent Node:
Neurodevelopmental delay (HP:0012758)

..Starting node
..Delayed social development (HP:0012434)

Term ID:

12434

Name:

Delayed social development

Synonym:

Delayed social development

Definition:

A failure to meet one or more age-related milestones of social behavior.

Comments:

Reference:

HP:0012434

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed speech and language development (HP:0000750)

Global developmental delay (HP:0001263)

Motor delay (HP:0001270)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012434	HP:0012434	Delayed social development	0	ITPR1 CL E G H	3708	208513	ORPHA	1	1563	6180	147265
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012434	HP:0012434	Delayed social development	0	TUBB3 CL E G H	10381	300570	ORPHA	0	320	20772	602661

Genes (2) :ITPR1 TUBB3

Diseases (2) :208513 300570

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.