Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal morphology (HP:0000479)help
Parent Node:
expandYellow/white lesions of the retina (HP:0030506)help
..Starting node
..expandRetinal exudate (HP:0001147)help
Term ID: 1147
Name: Retinal exudate
Synonym: Retinal exudates
Definition: Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
Comments:
Reference: HP:0001147
Genes and Diseases:
 
       Child Nodes:
........expandCentral retinal exudate (HP:0007822) help
........expandExudative retinopathy (HP:0007898) help
........expandIntraretinal exudate (HP:0007989) help
........expandSubretinal exudate (HP:0011532) help
........expandPeripapillary exudate (HP:0025093) help

 Sister Nodes: 
..expandDrusen (HP:0011510) help
..expandRetinal calcification (HP:0007862) help
..expandRetinal cotton wool spot (HP:0031606) help
..expandRetinal crystals (HP:0030507) help
..expandRetinal flecks (HP:0012045) help
..expandVitelliform-like retinal lesions (HP:0030643) help
..expandYellow/white lesions of the macula (HP:0030500) 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:0001147HP:0001147Retinal exudate0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0001147HP:0001147Retinal exudate0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0001147HP:0001147Retinal exudate0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0001147HP:0001147Retinal exudate0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0001147HP:0001147Retinal exudate0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0001147HP:0001147Retinal exudate0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0001147HP:0001147Retinal exudate0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0001147HP:0001147Retinal exudate0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0001147HP:0001147Retinal exudate0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0001147HP:0001147Retinal exudate0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 5.39
HP:0001147HP:0025093Peripapillary exudate1 CL E G H
HP:0001147HP:0007822Central retinal exudate1 CL E G H
HP:0001147HP:0007898Exudative retinopathy1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0001147HP:0007898Exudative retinopathy1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0001147HP:0011532Subretinal exudate1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0001147HP:0007989Intraretinal exudate1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked.39
HP:0001147HP:0007898Exudative retinopathy1TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0001147HP:0007898Exudative retinopathy1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60


Genes (7) :CTC1 FZD4 LRP5 NDP TINF2 TREX1 TSPAN12

Diseases (9) :OMIM:612199 OMIM:133780 OMIM:601813 ORPHA:2788 OMIM:305390 OMIM:613990 OMIM:268130 OMIM:192315 OMIM:613310
 

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