Human Phenotype Ontology

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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 macular morphology (HP:0001103)

Parent Node:
Abnormal foveal morphology (HP:0000493)

..Starting node
..Absent foveal reflex (HP:0030825)

Term ID:

30825

Name:

Absent foveal reflex

Synonym:

Foveal reflex absent; Loss of foveal reflex

Definition:

Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.

Comments:

Reference:

HP:0030825

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of foveal pigmentation (HP:0030493)

Aplasia/Hypoplasia of the fovea (HP:0008060)

Ectopic fovea (HP:0025007)

Foveal atrophy (HP:0025010)

Foveal degeneration (HP:0025146)

Foveoschisis (HP:0012152)

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:0030825	HP:0030825	Absent foveal reflex	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0030825	HP:0030825	Absent foveal reflex	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0030825	HP:0030825	Absent foveal reflex	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional	58
HP:0030825	HP:0030825	Absent foveal reflex	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0030825	HP:0030825	Absent foveal reflex	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0030825	HP:0030825	Absent foveal reflex	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0030825	HP:0030825	Absent foveal reflex	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0030825	HP:0030825	Absent foveal reflex	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0030825	HP:0030825	Absent foveal reflex	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0030825	HP:0030825	Absent foveal reflex	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0030825	HP:0030825	Absent foveal reflex	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0030825	HP:0030825	Absent foveal reflex	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0030825	HP:0030825	Absent foveal reflex	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	159
HP:0030825	HP:0030825	Absent foveal reflex	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	HP:0040283 - Occasional	8
HP:0030825	HP:0030825	Absent foveal reflex	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	32
HP:0030825	HP:0030825	Absent foveal reflex	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	107
HP:0030825	HP:0030825	Absent foveal reflex	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	47
HP:0030825	HP:0030825	Absent foveal reflex	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0030825	HP:0030825	Absent foveal reflex	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0030825	HP:0030825	Absent foveal reflex	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22

Genes (18) :ATF6 CACNA1F CNGA3 CNGB3 GNAT2 HPS6 OFD1 PDE6C PDE6G PDE6H PRPH2 RBP4 RDH5 RHO RLBP1 RPE65 RPGR TLCD3B

Diseases (11) :ORPHA:49382 OMIM:616517 OMIM:300476 OMIM:216900 OMIM:614075 OMIM:300424 OMIM:613582 ORPHA:52427 OMIM:615147 OMIM:204100 OMIM:619531

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

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