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
..expandCongenital corneal dystrophy (HP:0008005) help
..expandGranular corneal dystrophy (HP:0007802) help
..expandMarginal corneal dystrophy (HP:0007880) help
..expandMosaic corneal dystrophy (HP:0007836) help
..expandPunctate corneal dystrophy (HP:0007809) help
..expandSpeckled corneal dystrophy (HP:0007962) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001149HP:0001149Lattice corneal dystrophy0GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM1131344620137350
HP:0001149HP:0001149Lattice corneal dystrophy0OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM114478507601743
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM17011911771601692
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0001149HP:0001149Lattice corneal dystrophy0TGFBI CL E G H7045122200Lattice corneal dystrophy Type I122200C1690006OMIM17011911771601692
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :GSN OSMR TGFBI

Diseases (5) :105120 105250 607541 608471 122200
 

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