{"_id":"MONDO:0011855","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"50-07-7","chemical_name":"Mitomycin","direct_evidence":"therapeutic","mesh_chemical_id":"D016685","pubmed":"18615204","source":"CTD"},"mesh":"C535474","pathway_related_to_disease":[{"inference_gene_symbol":"TGFBI","pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"TGFBI","pathway_name":"Amyloid fiber formation","react_pathway_id":"R-HSA-977225","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:12318","DOID:0050736","DOID:0050177","DOID:630","DOID:4","DOID:0050155","DOID:0060441","DOID:863","DOID:5614","DOID:7","DOID:10124","DOID:2566","DOID:0050739"],"children":[],"def":"\"An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.\" [url:https\\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, url:https\\://www.omim.org/entry/607541]","descendants":[],"doid":"DOID:0060444","name":"granular corneal dystrophy 2","parents":["DOID:12318"],"synonyms":{"exact":["avellino corneal dystrophy","CGD2","combined granular-lattice corneal dystrophy","corneal dystrophy, Avellino type","granular corneal dystrophy type 2"]},"xrefs":{"mesh":"C535474","mim":"607541","ordo":"98963","snomedct_us_2025_09_01":"397568004","umls_cui":"C1275685"}},"hpo":[{"clinical_course":[{"biocuration":{"date":"2023-02-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":4,"hpo_id":"HP:0003621","hpo_name":"Juvenile onset","numeric_freq":0.8,"original_disease_id":"OMIM:607541","pmid_refs":"PMID:9727418"},{"biocuration":{"date":"2023-02-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0011463","hpo_name":"Childhood onset","numeric_freq":0.2,"original_disease_id":"OMIM:607541","pmid_refs":"PMID:9727418"}],"disease_name":"Corneal dystrophy, Avellino type","inheritance":{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2023-02-09","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:607541","pmid_refs":"PMID:9054935"},"omim":"607541","phenotype_related_to_disease":[{"biocuration":[{"date":"2015-07-26","name":"HPO:skoehler"},{"date":"2023-02-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":5,"hpo_id":"HP:0007663","numeric_freq":1.0,"original_disease_id":"OMIM:607541","pmid_refs":"PMID:9727418"},{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2023-02-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":5,"hpo_id":"HP:0000505","numeric_freq":1.0,"original_disease_id":"OMIM:607541","pmid_refs":"PMID:9727418"},{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2023-02-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":5,"hpo_id":"HP:0001149","numeric_freq":1.0,"original_disease_id":"OMIM:607541","pmid_refs":"PMID:9727418"}]},{"disease_name":"Granular corneal dystrophy type II","orphanet":"98963","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000531","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007802","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011493","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000505","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0007663","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0007759","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008039","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000495","orphanet_refs":"orphanet:98963"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000622","orphanet_refs":"orphanet:98963"}]}],"mondo":{"ancestors":["MONDO:0020213","MONDO:0000764","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:0018102","MONDO:0000942","MONDO:0024458","MONDO:0003847","MONDO:7770006","MONDO:0005328","MONDO:0002022","MONDO:7770008"],"definition":"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. [Orphanet:98963]","label":"granular corneal dystrophy type II","mondo":"MONDO:0011855","parents":["MONDO:0000764","MONDO:0020213"],"synonym":{"exact":["Avellino corneal dystrophy","avellino corneal dystrophy","CGD2","combined granular-lattice corneal dystrophy","GCD2","GCDII","granular corneal dystrophy type 2","granular-lattice corneal dystrophy"],"related":["ACD","CDA","combined granular-lattice corneal dystrophies","corneal dystrophy Avellino type","corneal dystrophy, AVELLINO type","granular and lattice corneal dystrophies","granular-lattice (Avellino) corneal dystrophy"]},"xrefs":{"doid":["DOID:0060444"],"gard":["0009278"],"icd9":["371.56"],"medgen":["220900"],"mesh":["C535474"],"omim":["607541"],"orphanet":["98963"],"sctid":["397568004"],"umls":["C1275685"]}},"original_id":"orphanet:98963","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C535474","preferred":"C535474"},"snomed":{"non-preferred":"397568004","preferred":"397568004"},"umls":"C1275685"}}