Human Phenotype Ontology 
Grandparent Node:
expandAbnormal macular morphology (HP:0001103)help
Grandparent Node:
expandRetinal perforation (HP:0011958)help
Parent Node:
expandMacular hole (HP:0011508)help
..Starting node
..expandFull-thickness macular hole (HP:0031152)help
Term ID: 31152
Name: Full-thickness macular hole
Synonym: FTMH
Definition: Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.
Comments:
Reference: HP:0031152
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031152HP:0031152Full-thickness macular hole0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent24
HP:0031152HP:0031152Full-thickness macular hole0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent124
HP:0031152HP:0031152Full-thickness macular hole0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent159


Genes (3) :GUCA1A GUCY2D PRPH2

Diseases (1) :ORPHA:75377
 

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