Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Abnormality of retinal pigmentation (HP:0007703)help
..Starting node
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Retinal pigment epithelial mottling (HP:0007814)help
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:
........expandGranular macular appearance (HP:0007793) help

 Sister Nodes: 
..expandPigmentary retinopathy (HP:0000580) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007814HP:0007814Retinal pigment epithelial mottling0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007814HP:0007814Retinal pigment epithelial mottling0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007814HP:0007814Retinal pigment epithelial mottling0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007814HP:0007814Retinal pigment epithelial mottling0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM15912518606272
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM15502518606272
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15912518606272
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15502518606272
HP:0007814HP:0007814Retinal pigment epithelial mottling0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0007814HP:0007814Retinal pigment epithelial mottling0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0007814HP:0007814Retinal pigment epithelial mottling0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0007814HP:0007814Retinal pigment epithelial mottling0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0007814HP:0007814Retinal pigment epithelial mottling0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0007814HP:0007814Retinal pigment epithelial mottling0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0007814HP:0007814Retinal pigment epithelial mottling0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0007814HP:0007814Retinal pigment epithelial mottling0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0007814HP:0007814Retinal pigment epithelial mottling0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0007814HP:0007814Retinal pigment epithelial mottling0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0007814HP:0007793Granular macular appearance1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007814HP:0007793Granular macular appearance1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007814HP:0007793Granular macular appearance1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007814HP:0007793Granular macular appearance1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007814HP:0007793Granular macular appearance1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0007814HP:0007793Granular macular appearance1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0007814HP:0007793Granular macular appearance1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM15912518606272
HP:0007814HP:0007793Granular macular appearance1CTNS CL E G H1497219900Juvenile nephropathic cystinosis219900C0268626OMIM15502518606272
HP:0007814HP:0007793Granular macular appearance1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15912518606272
HP:0007814HP:0007793Granular macular appearance1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15502518606272
HP:0007814HP:0007793Granular macular appearance1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0007814HP:0007793Granular macular appearance1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0007814HP:0007793Granular macular appearance1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0007814HP:0007793Granular macular appearance1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0007814HP:0007793Granular macular appearance1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0007814HP:0007793Granular macular appearance1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0007814HP:0007793Granular macular appearance1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0007814HP:0007793Granular macular appearance1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0007814HP:0007793Granular macular appearance1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0007814HP:0007793Granular macular appearance1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
 
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.