Human Phenotype Ontology 
Grandparent Node:
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Abnormal corneal endothelium morphology (HP:0011488)help
Parent Node:
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Abnormal Descemet membrane morphology (HP:0011490)help
..Starting node
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Corneal guttata (HP:0012038)help
Term ID: 12038
Name: Corneal guttata
Synonym: Corneal endothelial guttata
Definition: Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
Comments:
Reference: HP:0012038
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDescemet Membrane Folds (HP:0012039) help
..expandThinning of Descemet membrane (HP:0031159) 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:0012038HP:0012038Corneal guttata0AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 83
HP:0012038HP:0012038Corneal guttata0COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 1.3
HP:0012038HP:0012038Corneal guttata0KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0012038HP:0012038Corneal guttata0SLC4A11 CL E G H8395916438OMIM:613268CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD466
HP:0012038HP:0012038Corneal guttata0ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0012038HP:0012038Corneal guttata0ZEB1 CL E G H693511642OMIM:609141Corneal dystrophy, posterior polymorphous, 3.8


Genes (5) :AGBL1 COL8A2 KCNJ13 SLC4A11 ZEB1

Diseases (6) :OMIM:615523 OMIM:136800 OMIM:193230 OMIM:613268 OMIM:613270 OMIM:609141
 

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