Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology on macular OCT (HP:0030612)help
Parent Node:
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Abnormal foveal morphology on macular OCT (HP:0030613)help
..Starting node
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Foveal photoreceptor outer segment loss on macular OCT (HP:0030615)help
Term ID: 30615
Name: Foveal photoreceptor outer segment loss on macular OCT
Synonym:
Definition:
Comments:
Reference: HP:0030615
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal foveal pit on macular OCT (HP:0030622) help
..expandAbnormal OCT-measured foveal thickness (HP:0030617) help
..expandFoveal hyporeflective spaces on macular OCT (HP:0030627) help
..expandFoveal inner retinal layer loss on macular OCT (HP:0030621) help
..expandFoveal photoreceptor layer loss on macular OCT (HP:0030614) help
..expandFoveal retinal pigment epithelial loss on macular OCT (HP:0030616) 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:0030615HP:0030615Foveal photoreceptor outer segment loss on macular OCT0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent24
HP:0030615HP:0030615Foveal photoreceptor outer segment loss on macular OCT0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent124
HP:0030615HP:0030615Foveal photoreceptor outer segment loss on macular OCT0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent159


Genes (3) :GUCA1A GUCY2D PRPH2

Diseases (1) :ORPHA:75377
 

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