{"Name":"Schnyder crystalline corneal dystrophy","DiseaseID__c":"GARD:0009277","id":9277,"encodedName":"schnyder-crystalline-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Schnyder crystalline corneal dystrophy","Xref_IDs__c":"419395007; C0271287; C535475; DOID:0060456; MEDGEN:124391; MONDO:0007374; OMIM:121800; ORPHA:98967","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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:0007374","Disease_Description__c":"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.","GARD_Name__c":"Schnyder crystalline corneal dystrophy","GARD_Synonym__c":"corneal dystrophy crystalline of schnyder; corneal dystrophy, schnyder type; crystalline corneal dystrophy; crystalline stromal dystrophy; hereditary crystalline stromal dystrophy of schnyder; sccd; scd; schnyder corneal dystrophy; schnyder crystalline cornea dystrophy; schnyder crystalline dystrophy sine crystals; schnyder's crystalline corneal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0007374","Curated_Disease_Description__c":"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98967","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007374","ORPHANET_ID__c":"ORPHA:98967","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal cristalina de schnyder","Spanish_Description_Source__c":"ORPHA:98967","Spanish_Description__c":"La distrofia corneal de Schnyder (SCD) es una forma rara de distrofia corneal (consulte este término) caracterizada por opacificación de la córnea o por cristales en el estroma corneal, y una disminución progresiva de la agudeza visual.","Spanish_Disease_Name__c":"distrofia corneal cristalina de schnyder","Spanish_GARD_Synonym__c":null,"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":"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.","Curated_Disease_Description_Source__c":"MONDO:0007374","GARD_Synonym__c":"corneal dystrophy crystalline of schnyder; corneal dystrophy, schnyder type; crystalline corneal dystrophy; crystalline stromal dystrophy; hereditary crystalline stromal dystrophy of schnyder; sccd; scd; schnyder corneal dystrophy; schnyder crystalline cornea dystrophy; schnyder crystalline dystrophy sine crystals; schnyder's crystalline corneal dystrophy","Name":"Schnyder crystalline corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cornea Research Foundation of America","Website__c":"http://www.cornea.org"},{"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":"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:98967"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271287"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009277","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419395007","Source__c":"C0271287; MONDO:0007374","Xref__c":"419395007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124391","Source__c":"C0271287","Xref__c":"MEDGEN:124391"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271287","Source__c":"C0271287","Xref__c":"C0271287"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535475","Source__c":"MONDO:0007374","Xref__c":"C535475"},{"URL__c":"https://www.omim.org/entry/121800","Source__c":"C0271287; MONDO:0007374; ORPHA:98967","Xref__c":"OMIM:121800"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060456","Source__c":"MONDO:0007374","Xref__c":"DOID:0060456"},{"URL__c":"https://www.orpha.net/en/disease/detail/98967","Source__c":"C0271287; MONDO:0007374; ORPHA:98967","Xref__c":"ORPHA:98967"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007760","Source__c":"C0271287","Xref__c":"HP:0007760"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007374","Source__c":"GARD:0009277","Xref__c":"MONDO:0007374"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=39662004","Source__c":"C0271287","Xref__c":"39662004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UBIAD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:121800","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007760","HPO_Name__c":"Crystalline corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:121800","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal dystrophy crystalline of schnyder"," corneal dystrophy, schnyder type"," crystalline corneal dystrophy"," crystalline stromal dystrophy"," hereditary crystalline stromal dystrophy of schnyder"," sccd"," scd"," schnyder corneal dystrophy"," schnyder crystalline cornea dystrophy"," schnyder crystalline dystrophy sine crystals"," schnyder's crystalline corneal dystrophy"]}