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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012038HP:0012038Corneal guttata0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18352216120252
HP:0012038HP:0012038Corneal guttata0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524511642189909
HP:0012038HP:0012038Corneal guttata0ZEB1 CL E G H6935609141Posterior polymorphous corneal dystrophy 3609141C1836724OMIM1524511642189909
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012038HP:0012038Corneal guttata0SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM09547416438610206


Genes (3) :COL8A2 SLC4A11 ZEB1

Diseases (4) :136800 613268 613270 609141
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.