Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Grandparent Node:
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Internal hemorrhage (HP:0011029)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Fundus hemorrhage (HP:0031803)help
Parent Node:
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Hemorrhage of the eye (HP:0011885)help
..Starting node
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Retinal hemorrhage (HP:0000573)help
Term ID: 573
Name: Retinal hemorrhage
Synonym: Retinal bleeding; Retinal haemorrhage; Retinal haemorrhages; Retinal hemorrhages
Definition: Hemorrhage occurring within the retina.
Comments:
Reference: HP:0000573
Genes and Diseases:
 
       Child Nodes:
........expandSubretinal hemorrhage (HP:0025243) help
................... HP:0025582 Submacular hemorrhage
........expandSubretinal pigment epithelium hemorrhage (HP:0025244) help
........expandMacular hemmorhage (HP:0025574) help
................... HP:0025581 Foveal hemorrhage
................... HP:0025582 Submacular hemorrhage
........expandSub-inner limiting membrane hemorrhage (HP:0031611) help
........expandIntraretinal hemorrhage (HP:0031805) help
................... HP:0025241 Flame-shaped retinal hemorrhage
................... HP:0025242 Dot-and-blot retinal hemorrhage

 Sister Nodes: 
..expandChoroid hemorrhage (HP:0011887) help
..expandHyphema (HP:0011886) help
..expandSubconjunctival hemorrhage (HP:0011896) help
..expandVitreous hemorrhage (HP:0007902) 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:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0000573HP:0000573Retinal hemorrhage0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 139
HP:0000573HP:0000573Retinal hemorrhage0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0000573HP:0000573Retinal hemorrhage0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0000573HP:0000573Retinal hemorrhage0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0000573HP:0000573Retinal hemorrhage0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0000573HP:0000573Retinal hemorrhage0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1
HP:0000573HP:0000573Retinal hemorrhage0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1
HP:0000573HP:0000573Retinal hemorrhage0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0000573HP:0000573Retinal hemorrhage0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0000573HP:0000573Retinal hemorrhage0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000573HP:0000573Retinal hemorrhage0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of.193
HP:0000573HP:0000573Retinal hemorrhage0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0000573HP:0000573Retinal hemorrhage0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0000573HP:0000573Retinal hemorrhage0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0000573HP:0000573Retinal hemorrhage0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0000573HP:0000573Retinal hemorrhage0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0000573HP:0000573Retinal hemorrhage0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0000573HP:0000573Retinal hemorrhage0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0000573HP:0000573Retinal hemorrhage0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0000573HP:0000573Retinal hemorrhage0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1262
HP:0000573HP:0000573Retinal hemorrhage0IFNG CL E G H34585438ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional23
HP:0000573HP:0000573Retinal hemorrhage0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000573HP:0000573Retinal hemorrhage0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000573HP:0000573Retinal hemorrhage0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000573HP:0000573Retinal hemorrhage0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0000573HP:0000573Retinal hemorrhage0PRF1 CL E G H55519360ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional58
HP:0000573HP:0000573Retinal hemorrhage0SBDS CL E G H5111919440ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional26
HP:0000573HP:0000573Retinal hemorrhage0TERC CL E G H701211727ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional48
HP:0000573HP:0000573Retinal hemorrhage0TERT CL E G H701511730ORPHA:88Idiopathic aplastic anemiaHP:0040283 - Occasional238
HP:0000573HP:0000573Retinal hemorrhage0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0000573HP:0000573Retinal hemorrhage0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0000573HP:0000573Retinal hemorrhage0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0000573HP:0031805Intraretinal hemorrhage1 CL E G H
HP:0000573HP:0031611Sub-inner limiting membrane hemorrhage1 CL E G H
HP:0000573HP:0025243Subretinal hemorrhage1 CL E G H
HP:0000573HP:0025574Macular hemorrhage1APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 1HP:0040283 - Occasional39
HP:0000573HP:0025244Subretinal pigment epithelium hemorrhage1ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent140
HP:0000573HP:0025244Subretinal pigment epithelium hemorrhage1ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent3
HP:0000573HP:0025244Subretinal pigment epithelium hemorrhage1ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent2
HP:0000573HP:0025574Macular hemorrhage1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0000573HP:0025574Macular hemorrhage1CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1HP:0040283 - Occasional
HP:0000573HP:0025574Macular hemorrhage1CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1HP:0040283 - Occasional
HP:0000573HP:0025574Macular hemorrhage1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0000573HP:0025574Macular hemorrhage1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0000573HP:0025574Macular hemorrhage1HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1HP:0040283 - Occasional262
HP:0000573HP:0025582Submacular hemorrhage2 CL E G H
HP:0000573HP:0025581Foveal hemorrhage2 CL E G H
HP:0000573HP:0025242Dot-and-blot retinal hemorrhage2 CL E G H
HP:0000573HP:0025241Flame-shaped retinal hemorrhage2 CL E G H


Genes (29) :ABCC6 APOE ATP6V0A2 ATP6V1A ATP6V1E1 CFH CFHR1 CFHR3 CFI COL4A1 DNM2 DST EFEMP1 ENPP1 ERCC6 ERCC8 GCDH HMCN1 IFNG IKBKG LAMB2 MYD88 PRF1 SBDS TERC TERT TREX1 XYLT1 XYLT2

Diseases (20) :ORPHA:51608 ORPHA:758 OMIM:177850 OMIM:264800 OMIM:603075 ORPHA:357074 ORPHA:75376 OMIM:611773 OMIM:175780 OMIM:180000 OMIM:615368 OMIM:614653 ORPHA:90324 ORPHA:25 ORPHA:88 ORPHA:464 OMIM:308300 OMIM:609049 ORPHA:33226 OMIM:192315
 

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