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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Retinal vein occlusion (HP:0012636)help
Term ID: 12636
Name: Retinal vein occlusion
Synonym:
Definition: Blockage of the retinal vein.
Comments:
Reference: HP:0012636
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
..expandHypertensive retinopathy (HP:0001095) 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
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012636HP:0012636Retinal vein occlusion0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare101
HP:0012636HP:0012636Retinal vein occlusion0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare54
HP:0012636HP:0012636Retinal vein occlusion0F12 CL E G H21613530ORPHA:330Congenital factor XII deficiencyHP:0040283 - Occasional28
HP:0012636HP:0012636Retinal vein occlusion0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0012636HP:0012636Retinal vein occlusion0MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare47
HP:0012636HP:0012636Retinal vein occlusion0SERPINC1 CL E G H462775ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiencyHP:0040283 - Occasional88
HP:0012636HP:0020165Branch retinal vein occlusion1 CL E G H
HP:0012636HP:0020167Hemiretinal vein occlusion1 CL E G H
HP:0012636HP:0020166Central retinal vein occlusion1 CL E G H


Genes (6) :CYP1B1 EFEMP1 F12 LOXL1 MYOC SERPINC1

Diseases (4) :ORPHA:98977 ORPHA:330 OMIM:177650 ORPHA:82
 

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