Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of retinal pigmentation (HP:0007703)help
Parent Node:
expand
Abnormality of macular pigmentation (HP:0008002)help
Parent Node:
expand
Retinal pigment epithelial mottling (HP:0007814)help
..Starting node
..expand
Granular macular appearance (HP:0007793)help
Term ID: 7793
Name: Granular macular appearance
Synonym: Macular retinal pigment epithelial mottling
Definition: Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
Comments:
Reference: HP:0007793
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007793HP:0007793Granular macular appearance0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0007793HP:0007793Granular macular appearance0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0007793HP:0007793Granular macular appearance0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007793HP:0007793Granular macular appearance0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0007793HP:0007793Granular macular appearance0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0007793HP:0007793Granular macular appearance0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0007793HP:0007793Granular macular appearance0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0007793HP:0007793Granular macular appearance0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0007793HP:0007793Granular macular appearance0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48


Genes (9) :CFH CFI CHM EFEMP1 LCA5 LRAT PROM1 RPE65 SPATA7

Diseases (4) :ORPHA:75376 OMIM:303100 ORPHA:364055 OMIM:608051
 

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