Human Phenotype Ontology 
Grandparent Node:
expandAbnormal macular morphology (HP:0001103)help
Parent Node:
expandAbnormal foveal morphology (HP:0000493)help
Parent Node:
expandAbnormality of macular pigmentation (HP:0008002)help
..Starting node
..expandAbnormality of foveal pigmentation (HP:0030493)help
Term ID: 30493
Name: Abnormality of foveal pigmentation
Synonym:
Definition: An anomaly of the pigmentation in the fovea centralis.
Comments:
Reference: HP:0030493
Genes and Diseases:
 
       Child Nodes:
........expandFoveal hyperpigmentation (HP:0008001) help
........expandFoveal hypopigmentation (HP:0012643) help
................... HP:0500088 Foveal depigmentation

 Sister Nodes: 
..expandBeaten bronze macular sheen (HP:0025147) help
..expandBull's eye maculopathy (HP:0011504) help
..expandGranular macular appearance (HP:0007793) help
..expandMacular hyperpigmentation (HP:0011509) help
..expandMacular hypopigmentation (HP:0007988) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030493HP:0030493Abnormality of foveal pigmentation0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 139
HP:0030493HP:0030493Abnormality of foveal pigmentation0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1
HP:0030493HP:0030493Abnormality of foveal pigmentation0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1
HP:0030493HP:0030493Abnormality of foveal pigmentation0CTNNA1 CL E G H14952509OMIM:608970Macular dystrophy, patterned, 2141
HP:0030493HP:0030493Abnormality of foveal pigmentation0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1262
HP:0030493HP:0030493Abnormality of foveal pigmentation0IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular4
HP:0030493HP:0030493Abnormality of foveal pigmentation0RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 186
HP:0030493HP:0030493Abnormality of foveal pigmentation0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0030493HP:0012643Foveal hypopigmentation1APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 1.39
HP:0030493HP:0012643Foveal hypopigmentation1CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1.
HP:0030493HP:0012643Foveal hypopigmentation1CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1.
HP:0030493HP:0008001Foveal hyperpigmentation1CTNNA1 CL E G H14952509OMIM:608970Macular dystrophy, patterned, 2.141
HP:0030493HP:0012643Foveal hypopigmentation1HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1.262
HP:0030493HP:0008001Foveal hyperpigmentation1IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular.4
HP:0030493HP:0008001Foveal hyperpigmentation1RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 18.6
HP:0030493HP:0008001Foveal hyperpigmentation1SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2.13
HP:0030493HP:0500088Foveal depigmentation2 CL E G H


Genes (8) :APOE CFHR1 CFHR3 CTNNA1 HMCN1 IMPG1 RAB28 SLC38A8

Diseases (5) :OMIM:603075 OMIM:608970 OMIM:153870 OMIM:615374 OMIM:609218
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.