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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Lattice corneal dystrophy (HP:0001149)help
Term ID: 1149
Name: Lattice corneal dystrophy
Synonym: Biber haab dimmer dystrophy
Definition: The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
Comments:
Reference: HP:0001149
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBand-shaped corneal dystrophy (HP:0007709) help
..expandGranular corneal dystrophy (HP:0007802) 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
..expandSpeckled corneal dystrophy (HP:0007962) 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:0001149HP:0001149Lattice corneal dystrophy0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0001149HP:0001149Lattice corneal dystrophy0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0001149HP:0001149Lattice corneal dystrophy0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 1.5
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H704511771OMIM:607541Corneal dystrophy, Avellino type.58
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H704511771OMIM:122200Corneal dystrophy, lattice type I.58
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H704511771OMIM:608471Corneal dystrophy, lattice type IIIA.58
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040281 - Very frequent58


Genes (3) :GSN OSMR TGFBI

Diseases (7) :ORPHA:85448 OMIM:105120 OMIM:105250 OMIM:607541 OMIM:122200 OMIM:608471 ORPHA:98964
 

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