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 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H368758Apo A-I deficiencyORPHA138090457603234
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM1526702974602378
HP:0000573HP:0000573Retinal hemorrhage0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1773653356173335
HP:0000573HP:0000573Retinal hemorrhage0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000573HP:0000573Retinal hemorrhage0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17119712269606609
HP:0000573HP:0000573Retinal hemorrhage1ABCC6 CL E G H368758Apo A-I deficiencyORPHA138090457603234
HP:0000573HP:0000573Retinal hemorrhage1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM1526702974602378
HP:0000573HP:0000573Retinal hemorrhage1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1773653356173335
HP:0000573HP:0000573Retinal hemorrhage1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000573HP:0000573Retinal hemorrhage1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17119712269606609
HP:0000573HP:0000573Retinal hemorrhage2ABCC6 CL E G H368758Apo A-I deficiencyORPHA138090457603234
HP:0000573HP:0000573Retinal hemorrhage2ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage2ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138090457603234
HP:0000573HP:0000573Retinal hemorrhage2COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage2COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000573HP:0000573Retinal hemorrhage2DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM1526702974602378
HP:0000573HP:0000573Retinal hemorrhage2ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1773653356173335
HP:0000573HP:0000573Retinal hemorrhage2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000573HP:0000573Retinal hemorrhage2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17119712269606609
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000573HP:0000573Retinal hemorrhage0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000573HP:0000573Retinal hemorrhage0MYD88 CL E G H461533226ORPHA07697562602170
HP:0000573HP:0000573Retinal hemorrhage1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000573HP:0000573Retinal hemorrhage1MYD88 CL E G H461533226ORPHA07697562602170
HP:0000573HP:0000573Retinal hemorrhage2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000573HP:0000573Retinal hemorrhage2MYD88 CL E G H461533226ORPHA07697562602170


Genes (10) :ABCC6 ATP6V0A2 ATP6V1A ATP6V1E1 COL4A1 DNM2 ENPP1 IKBKG MYD88 TREX1

Diseases (11) :758 264800 177850 611773 180000 615368 464 308300 33226 192315 357074
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.