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 retinal morphology (HP:0000479)

Grandparent Node:
Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Parent Node:
Abnormal macular morphology (HP:0001103)

Parent Node:
Aplasia/Hypoplasia of the retina (HP:0008061)

..Starting node
..Aplasia/Hypoplasia of the macula (HP:0008059)

Term ID:

8059

Name:

Aplasia/Hypoplasia of the macula

Synonym:

Absent/underdeveloped macula

Definition:

Comments:

Reference:

HP:0008059

Genes and Diseases:

Child Nodes:

........

Macular hypoplasia (HP:0001104)

........

Aplasia/Hypoplasia of the fovea (HP:0008060)

................... HP:0007750 Hypoplasia of the fovea
................... HP:0011503 Aplasia of the fovea

Sister Nodes:

Aplasia of the retina (HP:0010728)

Hypoplasia of the retina (HP:0007770)

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:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	826
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	62
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	63
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	194
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	110
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040282 - Frequent	159
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent	12
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	1
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008059	HP:0008059	Aplasia/Hypoplasia of the macula	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008059	HP:0001104	Macular hypoplasia	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008059	HP:0001104	Macular hypoplasia	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008059	HP:0001104	Macular hypoplasia	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0008059	HP:0001104	Macular hypoplasia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0008059	HP:0001104	Macular hypoplasia	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0008059	HP:0001104	Macular hypoplasia	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0008059	HP:0001104	Macular hypoplasia	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008059	HP:0001104	Macular hypoplasia	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008059	HP:0001104	Macular hypoplasia	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0008059	HP:0001104	Macular hypoplasia	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	HP:0040283 - Occasional	21
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008059	HP:0001104	Macular hypoplasia	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008059	HP:0001104	Macular hypoplasia	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008059	HP:0033743	Macular agenesis	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008059	HP:0001104	Macular hypoplasia	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008059	HP:0001104	Macular hypoplasia	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008059	HP:0033743	Macular agenesis	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008059	HP:0008060	Aplasia/Hypoplasia of the fovea	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008059	HP:0011503	Aplasia of the fovea	2	CL E G H
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	1
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.	58
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	64
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.	12
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent	42
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008059	HP:0007750	Hypoplasia of the fovea	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177

Genes (50) :ABCA4 AP3D1 ATF6 ATOH7 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CNGA3 CNGB3 COL18A1 DCT DPYD ELOVL4 EPG5 FOXC1 FZD4 GDF3 GDF6 GNAT2 GPR143 HMX1 HPS4 HPS5 HPS6 IKBKG LAMB2 LYST MAF MC1R MPDZ MTSS2 MYO5A NDP NEU1 OCA2 PAX6 PDE6C PDE6H PROM1 PRPH2 PRR12 RPGR SLC24A5 SLC38A8 SLC45A2 TRIM44 TYR UGP2 WT1

Diseases (45) :ORPHA:827 ORPHA:54 ORPHA:49382 OMIM:616517 ORPHA:91495 OMIM:614077 OMIM:619172 OMIM:300600 ORPHA:178333 OMIM:617406 OMIM:216900 OMIM:267750 OMIM:619165 ORPHA:1675 OMIM:242840 ORPHA:250923 OMIM:613703 OMIM:612109 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:308300 OMIM:609049 OMIM:214500 OMIM:610202 OMIM:203200 ORPHA:79432 OMIM:615219 OMIM:620086 ORPHA:33445 ORPHA:93400 OMIM:106210 OMIM:604229 ORPHA:2334 OMIM:136520 OMIM:619539 OMIM:113750 ORPHA:370097 OMIM:609218 OMIM:606574 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen