Human Phenotype Ontology 
Grandparent Node:
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Abnormal optical coherence tomography (HP:0030603)help
Parent Node:
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Abnormal retinal morphology on macular OCT (HP:0030612)help
..Starting node
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Photoreceptor layer loss on macular OCT (HP:0030609)help
Term ID: 30609
Name: Photoreceptor layer loss on macular OCT
Synonym:
Definition: Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.
Comments:
Reference: HP:0030609
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal foveal morphology on macular OCT (HP:0030613) help
..expandAbnormal OCT-measured macular thickness (HP:0030606) help
..expandHyporeflective spaces on macular OCT (HP:0030625) help
..expandInner retinal layer loss on macular OCT (HP:0030620) help
..expandPhotoreceptor outer segment loss on macular OCT (HP:0030610) help
..expandRetinal pigment epithelial loss on macular OCT (HP:0030611) 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:0030609HP:0030609Photoreceptor layer loss on macular OCT0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0030609HP:0030609Photoreceptor layer loss on macular OCT0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040281 - Very frequent4
HP:0030609HP:0030609Photoreceptor layer loss on macular OCT0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0030609HP:0030609Photoreceptor layer loss on macular OCT0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030609HP:0030609Photoreceptor layer loss on macular OCT0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28


Genes (5) :CLCC1 HLA-A PMM2 SLC6A6 TRNT1

Diseases (5) :OMIM:609913 ORPHA:179 ORPHA:79318 OMIM:145350 OMIM:616959
 

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