Human Phenotype Ontology 
Grandparent Node:
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Abnormality of fluid regulation (HP:0011032)help
Parent Node:
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Abnormal corneal stroma morphology (HP:0011492)help
Parent Node:
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Edema (HP:0000969)help
..Starting node
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Corneal stromal edema (HP:0012040)help
Term ID: 12040
Name: Corneal stromal edema
Synonym: Corneal stromal oedema
Definition: Abnormal accumulation of fluid and swelling of the stroma of cornea.
Comments:
Reference: HP:0012040
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCerebral edema (HP:0002181) help
..expandEdema of the dorsum of feet (HP:0012098) help
..expandEdema of the dorsum of hands (HP:0007514) help
..expandEdema of the upper limbs (HP:0010742) help
..expandFacial edema (HP:0000282) help
..expandGeneralized edema (HP:0007430) help
..expandGenital edema (HP:0031188) help
..expandHydrops fetalis (HP:0001789) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHypoproteinemic edema (HP:0007609) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntestinal edema (HP:0005225) help
..expandJoint swelling (HP:0001386) help
..expandLaryngeal edema (HP:0012027) help
..expandLymphedema (HP:0001004) help
..expandMacular edema (HP:0040049) help
..expandMuscular edema (HP:0100748) help
..expandPeau d'orange (HP:0025533) help
..expandPedal edema (HP:0010741) help
..expandPeripheral edema (HP:0012398) help
..expandPharyngeal edema (HP:0011855) help
..expandPleural effusion (HP:0002202) help
..expandPulmonary edema (HP:0100598) help
..expandTongue edema (HP:0040315) 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:0012040HP:0012040Corneal stromal edema0COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 1.3
HP:0012040HP:0012040Corneal stromal edema0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0012040HP:0012040Corneal stromal edema0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional33
HP:0012040HP:0012040Corneal stromal edema0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional4
HP:0012040HP:0012040Corneal stromal edema0SLC4A11 CL E G H8395916438ORPHA:293603Congenital hereditary endothelial dystrophy type IIHP:0040281 - Very frequent66
HP:0012040HP:0012040Corneal stromal edema0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0012040HP:0012040Corneal stromal edema0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional47
HP:0012040HP:0012040Corneal stromal edema0ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0012040HP:0012040Corneal stromal edema0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional8


Genes (7) :COL8A2 GRHL2 OVOL2 SLC4A11 TGFBI VSX1 ZEB1

Diseases (5) :OMIM:136800 ORPHA:98973 ORPHA:293603 ORPHA:98964 OMIM:613270
 

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