{"Name":"Macular corneal dystrophy","DiseaseID__c":"GARD:0006953","id":6953,"encodedName":"macular-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Macular corneal dystrophy","Xref_IDs__c":"60258001; C1636149; C34793; C537834; DOID:2565; H18.55; MEDGEN:351514; MONDO:0009020; OMIM:217800; ORPHA:98969","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009020","Disease_Description__c":"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.","GARD_Name__c":"Macular corneal dystrophy","GARD_Synonym__c":"corneal dystrophy groenouw type ii; fehr corneal dystrophy; groenouw type ii corneal dystrophy; macular corneal dystrophy type i; macular dystrophy, corneal, 1; mcd","Curated_Disease_Description_Source__c":"MONDO:0009020","Curated_Disease_Description__c":"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98969","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009020","ORPHANET_ID__c":"ORPHA:98969","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal macular","Spanish_Description_Source__c":"ORPHA:98969","Spanish_Description__c":"La distrofia corneal macular (MCD) es una forma rara y grave de distrofia corneal estromal (consulte este término) caracterizada por zonas nebulosas, bilaterales y poco definidas dentro de un estroma nebuloso y, finalmente, discapacidad visual grave.","Spanish_Disease_Name__c":"distrofia corneal macular","Spanish_GARD_Synonym__c":"distrofia corneal de fehr; distrofia corneal de groenouw tipo ii","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.","Curated_Disease_Description_Source__c":"MONDO:0009020","GARD_Synonym__c":"corneal dystrophy groenouw type ii; fehr corneal dystrophy; groenouw type ii corneal dystrophy; macular corneal dystrophy type i; macular dystrophy, corneal, 1; mcd","Name":"Macular corneal dystrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98969"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006953","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1636149","Source__c":"C1636149","Xref__c":"C1636149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=351514","Source__c":"C1636149","Xref__c":"MEDGEN:351514"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537834","Source__c":"MONDO:0009020","Xref__c":"C537834"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2565","Source__c":"MONDO:0009020","Xref__c":"DOID:2565"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/H18.55","Source__c":"MONDO:0009020","Xref__c":"H18.55"},{"URL__c":"https://www.orpha.net/en/disease/detail/98969","Source__c":"C1636149; MONDO:0009020","Xref__c":"ORPHA:98969"},{"URL__c":"https://www.omim.org/entry/217800","Source__c":"C1636149; MONDO:0009020; ORPHA:98969","Xref__c":"OMIM:217800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34793","Source__c":"MONDO:0009020","Xref__c":"C34793"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60258001","Source__c":"MONDO:0009020","Xref__c":"60258001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=418054005","Source__c":"C1636149","Xref__c":"418054005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009020","Source__c":"GARD:0006953","Xref__c":"MONDO:0009020"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHST6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the cornea to respond to stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012155","HPO_Synonym__c":"Corneal hypaesthesia; Corneal hypesthesia; Reduced corneal sensation","HPO_Name__c":"Decreased corneal sensation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000531","HPO_Synonym__c":"Corneal deposits","HPO_Name__c":"Corneal crystals","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Punctate opacification (reduced transparency) of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007856","HPO_Synonym__c":"Punctate corneal opacities","HPO_Name__c":"Punctate opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100689","HPO_Synonym__c":"Thin cornea","HPO_Name__c":"Decreased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98969","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000484","HPO_Name__c":"Hyperopic astigmatism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["corneal dystrophy groenouw type ii"," fehr corneal dystrophy"," groenouw type ii corneal dystrophy"," macular corneal dystrophy type i"," macular dystrophy, corneal, 1"," mcd"]}