Human Phenotype Ontology 
Grandparent Node:
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Abnormal vitreous humor morphology (HP:0004327)help
Parent Node:
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Vitreoretinopathy (HP:0007773)help
..Starting node
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Exudative vitreoretinopathy (HP:0030490)help
Term ID: 30490
Name: Exudative vitreoretinopathy
Synonym:
Definition:
Comments:
Reference: HP:0030490
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDegenerative vitreoretinopathy (HP:0007964) help
..expandErosive vitreoretinopathy (HP:0030673) 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:0030490HP:0030490Exudative vitreoretinopathy0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0030490HP:0030490Exudative vitreoretinopathy0CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 788
HP:0030490HP:0030490Exudative vitreoretinopathy0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defectsHP:0040284 - Very rare88
HP:0030490HP:0030490Exudative vitreoretinopathy0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0030490HP:0030490Exudative vitreoretinopathy0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0030490HP:0030490Exudative vitreoretinopathy0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0030490HP:0030490Exudative vitreoretinopathy0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0030490HP:0030490Exudative vitreoretinopathy0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked.39
HP:0030490HP:0030490Exudative vitreoretinopathy0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 5.39
HP:0030490HP:0030490Exudative vitreoretinopathy0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathyHP:0040283 - Occasional180
HP:0030490HP:0030490Exudative vitreoretinopathy0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6.14


Genes (8) :BAP1 CTNNB1 FZD4 LRP5 NDP TSPAN12 VCAN ZNF408

Diseases (10) :OMIM:619762 OMIM:617572 OMIM:615075 OMIM:133780 OMIM:601813 ORPHA:2788 OMIM:305390 OMIM:613310 OMIM:143200 OMIM:616468
 

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