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 visual electrophysiology (HP:0030453)

Parent Node:
Abnormal electroretinogram (HP:0000512)

..Starting node
..Undetectable electroretinogram (HP:0000550)

Term ID:

550

Name:

Undetectable electroretinogram

Synonym:

Abolished electroretinogram; Absent electroretinogram; Extinction of electroretinogram; Extinguished electroretinogram; No light-evoked response on electroretinogram; Undetectable ERG

Definition:

Lack of any response to stimulation upon electroretinography.

Comments:

Reference:

HP:0000550

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal full-field electroretinogram (HP:0030466)

Abnormal multifocal electroretinogram (HP:0030468)

Abnormal pattern electroretinogram (HP:0030467)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	682	2074	607042
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CLN3 CL E G H	1201	204200	Juvenile neuronal ceroid lipofuscinosis	204200	C0751383	OMIM	1	766	2074	607042
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	894	2343	604210
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	1085	2343	604210
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	419	2383	602225
HP:0000550	HP:0000550	Undetectable electroretinogram	0	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	361	2383	602225
HP:0000550	HP:0000550	Undetectable electroretinogram	0	EYS CL E G H	346007	602772	Retinitis pigmentosa 25	602772	C1864446	OMIM	1	2589	21555	612424
HP:0000550	HP:0000550	Undetectable electroretinogram	0	EYS CL E G H	346007	602772	Retinitis pigmentosa 25	602772	C1864446	OMIM	1	2060	21555	612424
HP:0000550	HP:0000550	Undetectable electroretinogram	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	391	24682	609144
HP:0000550	HP:0000550	Undetectable electroretinogram	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	326	24682	609144
HP:0000550	HP:0000550	Undetectable electroretinogram	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	560	5213	601860
HP:0000550	HP:0000550	Undetectable electroretinogram	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	639	5213	601860
HP:0000550	HP:0000550	Undetectable electroretinogram	0	KIZ CL E G H	55857	615780	Retinitis pigmentosa 69	615780	C4014312	OMIM	1	182	15865	615757
HP:0000550	HP:0000550	Undetectable electroretinogram	0	KIZ CL E G H	55857	615780	Retinitis pigmentosa 69	615780	C4014312	OMIM	1	262	15865	615757
HP:0000550	HP:0000550	Undetectable electroretinogram	0	LCA5 CL E G H	167691	604537	Leber congenital amaurosis 5	604537	C1858301	OMIM	1	374	31923	611408
HP:0000550	HP:0000550	Undetectable electroretinogram	0	LCA5 CL E G H	167691	604537	Leber congenital amaurosis 5	604537	C1858301	OMIM	1	458	31923	611408
HP:0000550	HP:0000550	Undetectable electroretinogram	0	LRAT CL E G H	9227	613341	Leber congenital amaurosis 14	613341	C2750063	OMIM	1	182	6685	604863
HP:0000550	HP:0000550	Undetectable electroretinogram	0	LRAT CL E G H	9227	613341	Leber congenital amaurosis 14	613341	C2750063	OMIM	1	205	6685	604863
HP:0000550	HP:0000550	Undetectable electroretinogram	0	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	2223	7606	276903
HP:0000550	HP:0000550	Undetectable electroretinogram	0	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	2516	7606	276903
HP:0000550	HP:0000550	Undetectable electroretinogram	0	NR2E3 CL E G H	10002	268100	Enhanced s-cone syndrome	268100	C1849394	OMIM	1	422	7974	604485
HP:0000550	HP:0000550	Undetectable electroretinogram	0	NR2E3 CL E G H	10002	268100	Enhanced s-cone syndrome	268100	C1849394	OMIM	1	363	7974	604485
HP:0000550	HP:0000550	Undetectable electroretinogram	0	NRL CL E G H	4901	613750	Retinitis pigmentosa 27	613750	C1834329	OMIM	1	217	8002	162080
HP:0000550	HP:0000550	Undetectable electroretinogram	0	NRL CL E G H	4901	613750	Retinitis pigmentosa 27	613750	C1834329	OMIM	1	164	8002	162080
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PDE6D CL E G H	5147	615665	Joubert syndrome 22	615665	C3810278	OMIM	1	57	8788	602676
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PDE6D CL E G H	5147	615665	Joubert syndrome 22	615665	C3810278	OMIM	1	41	8788	602676
HP:0000550	HP:0000550	Undetectable electroretinogram	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	662	19139	606822
HP:0000550	HP:0000550	Undetectable electroretinogram	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	797	19139	606822
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	454	9325	600722
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	420	9325	600722
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PRCD CL E G H	768206	610599	Retinitis pigmentosa 36	610599	C1864621	OMIM	1	102	32528	610598
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PRCD CL E G H	768206	610599	Retinitis pigmentosa 36	610599	C1864621	OMIM	1	114	32528	610598
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PROM1 CL E G H	8842	612095	Retinitis pigmentosa 41	612095	C2677516	OMIM	1	643	9454	604365
HP:0000550	HP:0000550	Undetectable electroretinogram	0	PROM1 CL E G H	8842	612095	Retinitis pigmentosa 41	612095	C2677516	OMIM	1	509	9454	604365
HP:0000550	HP:0000550	Undetectable electroretinogram	0	RPGRIP1 CL E G H	57096	613826	Leber congenital amaurosis 6	613826	C1854260	OMIM	1	570	13436	605446
HP:0000550	HP:0000550	Undetectable electroretinogram	0	RPGRIP1 CL E G H	57096	613826	Leber congenital amaurosis 6	613826	C1854260	OMIM	1	708	13436	605446
HP:0000550	HP:0000550	Undetectable electroretinogram	0	TPP1 CL E G H	1200	204500	Ceroid lipofuscinosis neuronal 2	204500	C1876161	OMIM	1	745	2073	607998
HP:0000550	HP:0000550	Undetectable electroretinogram	0	TPP1 CL E G H	1200	204500	Ceroid lipofuscinosis neuronal 2	204500	C1876161	OMIM	1	645	2073	607998
HP:0000550	HP:0000550	Undetectable electroretinogram	0	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	812	12597	605242
HP:0000550	HP:0000550	Undetectable electroretinogram	0	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	733	12597	605242
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000550	HP:0000550	Undetectable electroretinogram	0	TULP1 CL E G H	7287	600132	Retinitis pigmentosa 14	600132	C1838603	OMIM	0	311	12423	602280
HP:0000550	HP:0000550	Undetectable electroretinogram	0	TULP1 CL E G H	7287	600132	Retinitis pigmentosa 14	600132	C1838603	OMIM	0	407	12423	602280

Genes (21) :CLN3 CRB1 CRX EYS FLVCR1 HSD17B4 KIZ LCA5 LRAT MYO7A NR2E3 NRL PDE6D POMGNT1 PPT1 PRCD PROM1 RPGRIP1 TPP1 TULP1 USH1C

Diseases (20) :204200 613835 613829 602772 609033 261515 615780 604537 613341 276900 268100 613750 615665 253280 256730 610599 612095 613826 204500 600132

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

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