Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
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Abnormality of the vasculature of the eye (HP:0008047)help
Parent Node:
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Abnormal retinal vascular morphology (HP:0008046)help
..Starting node
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Hypertensive retinopathy (HP:0001095)help
Term ID: 1095
Name: Hypertensive retinopathy
Synonym:
Definition:
Comments:
Reference: HP:0001095
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal distribution of retinal arterioles and venules (HP:0007815) help
..expandAbnormal retinal artery morphology (HP:0000630) help
..expandAttenuation of retinal blood vessels (HP:0007843) help
..expandIncreased retinal vascularity (HP:0007986) help
..expandLipemia retinalis (HP:0000660) help
..expandPeripheral retinal avascularization (HP:0007685) help
..expandRetinal neovascularization (HP:0030666) help
..expandRetinal telangiectasia (HP:0007763) help
..expandRetinal vascular malformation (HP:0007797) help
..expandRetinal vascular proliferation (HP:0007850) help
..expandRetinal vascular tortuosity (HP:0012841) help
..expandRetinal vasculitis (HP:0025188) help
..expandRetinal vein occlusion (HP:0012636) 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:0001095HP:0001095Hypertensive retinopathy0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0001095HP:0001095Hypertensive retinopathy0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0001095HP:0001095Hypertensive retinopathy0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0001095HP:0001095Hypertensive retinopathy0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0001095HP:0001095Hypertensive retinopathy0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0001095HP:0001095Hypertensive retinopathy0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0001095HP:0001095Hypertensive retinopathy0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040283 - Occasional14
HP:0001095HP:0001095Hypertensive retinopathy0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0001095HP:0001095Hypertensive retinopathy0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0001095HP:0001095Hypertensive retinopathy0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0001095HP:0001095Hypertensive retinopathy0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0001095HP:0001095Hypertensive retinopathy0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0001095HP:0001095Hypertensive retinopathy0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0001095HP:0001095Hypertensive retinopathy0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0001095HP:0001095Hypertensive retinopathy0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0001095HP:0001095Hypertensive retinopathy0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0001095HP:0001095Hypertensive retinopathy0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0001095HP:0001095Hypertensive retinopathy0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0001095HP:0001095Hypertensive retinopathy0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0001095HP:0001095Hypertensive retinopathy0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0001095HP:0001095Hypertensive retinopathy0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0001095HP:0001095Hypertensive retinopathy0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0001095HP:0001095Hypertensive retinopathy0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0001095HP:0001095Hypertensive retinopathy0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0001095HP:0001095Hypertensive retinopathy0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0001095HP:0001095Hypertensive retinopathy0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0001095HP:0001095Hypertensive retinopathy0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0001095HP:0001095Hypertensive retinopathy0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0001095HP:0001095Hypertensive retinopathy0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0001095HP:0001095Hypertensive retinopathy0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0001095HP:0001095Hypertensive retinopathy0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0001095HP:0001095Hypertensive retinopathy0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490


Genes (19) :CCND1 DLST DNMT3A EPAS1 FH HSD11B2 KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (6) :ORPHA:892 ORPHA:29072 ORPHA:276621 OMIM:218030 ORPHA:320 OMIM:171300
 

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