{"Name":"Posterior amorphous corneal dystrophy","DiseaseID__c":"GARD:0016880","id":16880,"encodedName":"posterior-amorphous-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Posterior amorphous corneal dystrophy","Xref_IDs__c":"719296002; C2748502; C567546; DOID:0060452; MEDGEN:412567; MONDO:0013027; OMIM:612868; ORPHA:98971","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":2,"Description_Source__c":"MONDO:0013027","Disease_Description__c":"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.","GARD_Name__c":"Posterior amorphous corneal dystrophy","GARD_Synonym__c":"pacd; posterior amorphous stromal dystrophy","Curated_Disease_Description_Source__c":"ORPHA:98971","Curated_Disease_Description__c":"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98971","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013027","ORPHANET_ID__c":"ORPHA:98971","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal posterior amorfa","Spanish_Description_Source__c":"ORPHA:98971","Spanish_Description__c":"La distrofia corneal posterior amorfa (PACD) es una forma muy rara de distrofia corneal estromal (consulte este término) caracterizada por opacidades irregulares y amorfas diseminadas en el estroma corneal posterior y en la membrana de Descemet, y por una afección leve de la visión.","Spanish_Disease_Name__c":"distrofia corneal posterior amorfa","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":"Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.","Curated_Disease_Description_Source__c":"ORPHA:98971","GARD_Synonym__c":"pacd; posterior amorphous stromal dystrophy","Name":"Posterior amorphous corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"Infancy","Provided_By__c":"ORPHA:98971"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98971"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98971","Source__c":"C2748502; MONDO:0013027; ORPHA:98971","Xref__c":"ORPHA:98971"},{"URL__c":"https://www.omim.org/entry/612868","Source__c":"C2748502; MONDO:0013027; ORPHA:98971","Xref__c":"OMIM:612868"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412567","Source__c":"C2748502","Xref__c":"MEDGEN:412567"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748502","Source__c":"C2748502","Xref__c":"C2748502"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719296002","Source__c":"C2748502; MONDO:0013027","Xref__c":"719296002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060452","Source__c":"MONDO:0013027","Xref__c":"DOID:0060452"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567546","Source__c":"MONDO:0013027","Xref__c":"C567546"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013027","Source__c":"GARD:0016880","Xref__c":"MONDO:0013027"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612868","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malposition of the pupil owing to a developmental defect of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009918","HPO_Synonym__c":"Corectopia; Displaced pupil","HPO_Name__c":"Ectopia pupillae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612868","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":["pacd"," posterior amorphous stromal dystrophy"]}