Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Corneal dystrophy (HP:0001131)help
..Starting node
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Speckled corneal dystrophy (HP:0007962)help
Term ID: 7962
Name: Speckled corneal dystrophy
Synonym:
Definition:
Comments:
Reference: HP:0007962
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBand-shaped corneal dystrophy (HP:0007709) help
..expandGranular corneal dystrophy (HP:0007802) help
..expandLattice corneal dystrophy (HP:0001149) help
..expandMarginal corneal dystrophy (HP:0007880) help
..expandMosaic corneal dystrophy (HP:0007836) help
..expandobsolete Congenital corneal dystrophy (HP:0008005) help
..expandPunctate corneal dystrophy (HP:0007809) 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:0007962HP:0007962Speckled corneal dystrophy0PIKFYVE CL E G H20057623785OMIM:121850Corneal fleck dystrophy.112


Genes (1) :PIKFYVE

Diseases (1) :OMIM:121850
 

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