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 foveal morphology (HP:0000493)

Grandparent Node:
Aplasia/Hypoplasia of the macula (HP:0008059)

Parent Node:
Aplasia/Hypoplasia of the fovea (HP:0008060)

..Starting node
..Hypoplasia of the fovea (HP:0007750)

Term ID:

7750

Name:

Hypoplasia of the fovea

Synonym:

Foveal hypoplasia

Definition:

Underdevelopment of the fovea centralis.

Comments:

Reference:

HP:0007750

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the fovea (HP:0011503)

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:0007750	HP:0007750	Hypoplasia of the fovea	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	1
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.	58
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	64
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.	12
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent	42
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0007750	HP:0007750	Hypoplasia of the fovea	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177

Genes (31) :AP3D1 ATF6 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CNGA3 CNGB3 DCT GDF3 GDF6 GNAT2 GPR143 HPS4 HPS5 IKBKG MC1R MTSS2 NEU1 OCA2 PAX6 PDE6C PDE6H PRR12 RPGR SLC24A5 SLC38A8 SLC45A2 TYR UGP2 WT1

Diseases (30) :ORPHA:54 ORPHA:49382 OMIM:616517 OMIM:614077 OMIM:619172 OMIM:300600 ORPHA:178333 OMIM:617406 OMIM:216900 OMIM:619165 OMIM:613703 OMIM:614073 OMIM:614074 OMIM:308300 OMIM:203200 ORPHA:79432 OMIM:620086 ORPHA:93400 OMIM:106210 OMIM:604229 ORPHA:2334 OMIM:136520 OMIM:619539 OMIM:113750 OMIM:609218 ORPHA:79435 OMIM:203100 ORPHA:79431 ORPHA:79434 OMIM:618744

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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