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:
Retinal degeneration (HP:0000546)

Parent Node:
Macular degeneration (HP:0000608)

Parent Node:
Retinal atrophy (HP:0001105)

..Starting node
..Macular atrophy (HP:0007401)

Term ID:

7401

Name:

Macular atrophy

Synonym:

Definition:

Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.

Comments:

Reference:

HP:0007401

Genes and Diseases:

Child Nodes:

........

Macular scar (HP:0200056)

................... HP:0025094 Disciform macular scar

Sister Nodes:

Geographic atrophy (HP:0031609)

Peripheral retinal atrophy (HP:0200070)

Retinal pigment epithelial atrophy (HP:0007722)

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:0007401	HP:0007401	Macular atrophy	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0007401	HP:0007401	Macular atrophy	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.	3
HP:0007401	HP:0007401	Macular atrophy	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0007401	HP:0007401	Macular atrophy	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0007401	HP:0007401	Macular atrophy	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0007401	HP:0007401	Macular atrophy	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0007401	HP:0007401	Macular atrophy	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0007401	HP:0007401	Macular atrophy	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0007401	HP:0007401	Macular atrophy	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0007401	HP:0007401	Macular atrophy	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	.	1
HP:0007401	HP:0007401	Macular atrophy	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.	9
HP:0007401	HP:0007401	Macular atrophy	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0007401	HP:0007401	Macular atrophy	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0007401	HP:0007401	Macular atrophy	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0007401	HP:0007401	Macular atrophy	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0007401	HP:0007401	Macular atrophy	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0007401	HP:0007401	Macular atrophy	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	HP:0040283 - Occasional	24
HP:0007401	HP:0007401	Macular atrophy	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0007401	HP:0007401	Macular atrophy	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0007401	HP:0007401	Macular atrophy	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.	11
HP:0007401	HP:0007401	Macular atrophy	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0007401	HP:0007401	Macular atrophy	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.	148
HP:0007401	HP:0007401	Macular atrophy	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	HP:0040283 - Occasional	73
HP:0007401	HP:0007401	Macular atrophy	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0007401	HP:0007401	Macular atrophy	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.	1
HP:0007401	HP:0007401	Macular atrophy	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0007401	HP:0007401	Macular atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0007401	HP:0007401	Macular atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0007401	HP:0007401	Macular atrophy	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0007401	HP:0007401	Macular atrophy	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0007401	HP:0007401	Macular atrophy	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0007401	HP:0007401	Macular atrophy	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	HP:0040283 - Occasional	70
HP:0007401	HP:0007401	Macular atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0007401	HP:0007401	Macular atrophy	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159
HP:0007401	HP:0007401	Macular atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0007401	HP:0007401	Macular atrophy	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.	52
HP:0007401	HP:0007401	Macular atrophy	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0007401	HP:0007401	Macular atrophy	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0007401	HP:0007401	Macular atrophy	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0007401	HP:0007401	Macular atrophy	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0007401	HP:0007401	Macular atrophy	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional	14
HP:0007401	HP:0007401	Macular atrophy	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0007401	HP:0007401	Macular atrophy	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0007401	HP:0007401	Macular atrophy	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.	20
HP:0007401	HP:0007401	Macular atrophy	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0007401	HP:0007401	Macular atrophy	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0007401	HP:0007401	Macular atrophy	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.	95
HP:0007401	HP:0007401	Macular atrophy	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0007401	HP:0200056	Macular scar	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0007401	HP:0200056	Macular scar	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0007401	HP:0200056	Macular scar	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0007401	HP:0200056	Macular scar	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0007401	HP:0200056	Macular scar	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional	44
HP:0007401	HP:0025094	Disciform macular scar	2	CL E G H

Genes (42) :AIPL1 ARL2BP ATF6 C1QTNF5 CFAP418 CFH CFI CNNM4 DHX38 DRAM2 EFEMP1 ELOVL4 EPG5 GBA1 GUCA1A GUCY2D HK1 HLA-A IFT140 KCNV2 LZTFL1 MAPKAPK3 MERTK NMNAT1 NRL PCYT1A PLK4 PRPF31 PRPH2 RAX2 RDH5 RHO RIMS1 RLBP1 RP9 RS1 SH3BP2 SIX6 SLC6A6 TNFRSF11B WDR19 YARS1

Diseases (41) :OMIM:604393 OMIM:615434 OMIM:616517 ORPHA:67042 OMIM:614500 ORPHA:75376 OMIM:615439 OMIM:217080 OMIM:618220 OMIM:616502 OMIM:600110 OMIM:242840 OMIM:230800 ORPHA:75377 OMIM:602093 OMIM:601777 OMIM:617460 ORPHA:179 OMIM:617781 OMIM:610356 OMIM:615994 OMIM:617111 OMIM:613862 OMIM:608553 OMIM:619260 OMIM:613750 ORPHA:85167 OMIM:616171 OMIM:600138 OMIM:608161 ORPHA:52427 OMIM:610381 OMIM:603649 OMIM:180104 OMIM:312700 OMIM:118400 OMIM:212550 OMIM:145350 OMIM:239000 OMIM:616307 OMIM:619418

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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