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 retinal morphology (HP:0000479)

Parent Node:
Abnormality of retinal pigmentation (HP:0007703)

..Starting node
..Retinal pigment epithelial mottling (HP:0007814)

Term ID:

7814

Name:

Retinal pigment epithelial mottling

Synonym:

Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy

Definition:

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.

Comments:

Reference:

HP:0007814

Genes and Diseases:

Child Nodes:

........

Granular macular appearance (HP:0007793)

Sister Nodes:

Pigmentary retinopathy (HP:0000580)

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:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	2534	34	601691
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	2128	34	601691
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	757	20202	608171
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	593	20202	608171
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	700	2153	605080
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	590	2153	605080
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	591	2518	606272
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	550	2518	606272
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	591	2518	606272
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	550	2518	606272
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	213	14415	605512
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	178	14415	605512
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	643	9454	604365
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	509	9454	604365
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	592	9942	179605
HP:0007814	HP:0007814	Retinal pigment epithelial mottling	0	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	527	9942	179605
HP:0007814	HP:0007793	Granular macular appearance	1	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	2534	34	601691
HP:0007814	HP:0007793	Granular macular appearance	1	ABCA4 CL E G H	24	827	Stargardt disease		C0271093	ORPHA	1	2128	34	601691
HP:0007814	HP:0007793	Granular macular appearance	1	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	757	20202	608171
HP:0007814	HP:0007793	Granular macular appearance	1	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	593	20202	608171
HP:0007814	HP:0007793	Granular macular appearance	1	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	700	2153	605080
HP:0007814	HP:0007793	Granular macular appearance	1	CNGB3 CL E G H	54714	827	Stargardt disease		C0271093	ORPHA	1	590	2153	605080
HP:0007814	HP:0007793	Granular macular appearance	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	591	2518	606272
HP:0007814	HP:0007793	Granular macular appearance	1	CTNS CL E G H	1497	219900	Juvenile nephropathic cystinosis	219900	C0268626	OMIM	1	550	2518	606272
HP:0007814	HP:0007793	Granular macular appearance	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	591	2518	606272
HP:0007814	HP:0007793	Granular macular appearance	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	550	2518	606272
HP:0007814	HP:0007793	Granular macular appearance	1	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	213	14415	605512
HP:0007814	HP:0007793	Granular macular appearance	1	ELOVL4 CL E G H	6785	827	Stargardt disease		C0271093	ORPHA	1	178	14415	605512
HP:0007814	HP:0007793	Granular macular appearance	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0007814	HP:0007793	Granular macular appearance	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0007814	HP:0007793	Granular macular appearance	1	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0007814	HP:0007793	Granular macular appearance	1	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0007814	HP:0007793	Granular macular appearance	1	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	643	9454	604365
HP:0007814	HP:0007793	Granular macular appearance	1	PROM1 CL E G H	8842	827	Stargardt disease		C0271093	ORPHA	1	509	9454	604365
HP:0007814	HP:0007793	Granular macular appearance	1	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	592	9942	179605
HP:0007814	HP:0007793	Granular macular appearance	1	PRPH2 CL E G H	5961	827	Stargardt disease		C0271093	ORPHA	1	527	9942	179605
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (16) :ABCA4 ATF6 ATP6 CACNA2D4 CNGA3 CNGB3 CTNS ELOVL4 ERCC8 GNAT2 MT-ATP6 PDE6C PDE6H PROM1 PRPH2 RPGR

Diseases (9) :827 644 551500 610478 219900 219800 216400 49382 608051

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

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