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:
Cognitive impairment (HP:0100543)

Parent Node:
Mental deterioration (HP:0001268)

..Starting node
..Social and occupational deterioration (HP:0007086)

Term ID:

7086

Name:

Social and occupational deterioration

Synonym:

Definition:

Comments:

Reference:

HP:0007086

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dementia (HP:0000726)

Motor deterioration (HP:0002333)

Progressive neurologic deterioration (HP:0002344)

Psychomotor deterioration (HP:0002361)

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:0007086	HP:0007086	Social and occupational deterioration	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0007086	HP:0007086	Social and occupational deterioration	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0007086	HP:0007086	Social and occupational deterioration	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.	1
HP:0007086	HP:0007086	Social and occupational deterioration	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.	6
HP:0007086	HP:0007086	Social and occupational deterioration	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0007086	HP:0007086	Social and occupational deterioration	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0007086	HP:0007086	Social and occupational deterioration	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0007086	HP:0007086	Social and occupational deterioration	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0007086	HP:0007086	Social and occupational deterioration	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.	21
HP:0007086	HP:0007086	Social and occupational deterioration	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0007086	HP:0007086	Social and occupational deterioration	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434
HP:0007086	HP:0007086	Social and occupational deterioration	0	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.	4
HP:0007086	HP:0007086	Social and occupational deterioration	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0007086	HP:0007086	Social and occupational deterioration	0	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.	183
HP:0007086	HP:0007086	Social and occupational deterioration	0	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.	2
HP:0007086	HP:0007086	Social and occupational deterioration	0	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.	3

Genes (15) :APOL2 APOL4 CHI3L1 COMT CREBBP DAOA DISC2 DRD3 EP300 GRIN2A HTR2A MAPT MTHFR RTN4R SYN2

Diseases (6) :OMIM:181500 ORPHA:353281 ORPHA:353277 ORPHA:353284 ORPHA:98818 ORPHA:240071

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