Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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)

..Starting node
..Impaired social reciprocity (HP:0012760)

Term ID:

12760

Name:

Impaired social reciprocity

Synonym:

Definition:

A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.

Comments:

Reference:

HP:0012760

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed social development (HP:0012434)

Impaired social interactions (HP:0000735)

Overfriendliness (HP:0100025)

Shyness (HP:0100962)

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:0012760	HP:0012760	Impaired social reciprocity	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012760	HP:0012760	Impaired social reciprocity	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0012760	HP:0012760	Impaired social reciprocity	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0012760	HP:0012760	Impaired social reciprocity	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0012760	HP:0012760	Impaired social reciprocity	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0012760	HP:0012760	Impaired social reciprocity	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0012760	HP:0012760	Impaired social reciprocity	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0012760	HP:0012760	Impaired social reciprocity	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0012760	HP:4000092	Poor conversational reciprocity	1	CL E G H

Genes (8) :CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1

Diseases (1) :ORPHA:33364

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen