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:
Abnormal full-field electroretinogram (HP:0030466)

Parent Node:
Abnormal light- and dark-adapted electroretinogram (HP:0008323)

..Starting node
..Undetectable light- and dark-adapted electroretinogram (HP:0007688)

Term ID:

7688

Name:

Undetectable light- and dark-adapted electroretinogram

Synonym:

Absent cone and rod functions by electroretinogram; Absent rod-and cone-mediated responses on ERG

Definition:

Absence of the combined rod-and-cone response on electroretinogram.

Comments:

Reference:

HP:0007688

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)

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:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.	14
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0007688	HP:0007688	Undetectable light- and dark-adapted electroretinogram	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13		109

Genes (13) :ADAR AIPL1 ATP6 CERKL CLRN1 IMPDH1 NR2E3 NUP62 PCYT1A RP1 RP9 RPE65 RPGRIP1

Diseases (11) :ORPHA:225154 OMIM:604393 OMIM:608380 OMIM:614180 OMIM:180105 OMIM:611131 ORPHA:85167 OMIM:180100 OMIM:180104 OMIM:204100 OMIM:608194

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