{"Name":"Cryptophthalmia","DiseaseID__c":"GARD:0010505","id":10505,"encodedName":"cryptophthalmia","IsDeleted":false,"Disease_Name_Full__c":"Cryptophthalmia","Xref_IDs__c":"400951005; C0311249; C124520; DOID:0111716; MEDGEN:81386; MONDO:0020153; ORPHA:98562","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020153","Disease_Description__c":"A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.","GARD_Name__c":"Cryptophthalmia","GARD_Synonym__c":"cryptophthalmos","Curated_Disease_Description_Source__c":"MONDO:0020153","Curated_Disease_Description__c":"A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98562","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020153","ORPHANET_ID__c":"ORPHA:98562","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Criptoftalmia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"criptoftalmia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.","Curated_Disease_Description_Source__c":"MONDO:0020153","GARD_Synonym__c":"cryptophthalmos","Name":"Cryptophthalmia","estimateUsa":""}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400951005","Source__c":"C0311249; MONDO:0020153","Xref__c":"400951005"},{"URL__c":"https://www.orpha.net/en/disease/detail/98562","Source__c":"C0311249; MONDO:0020153; ORPHA:98562","Xref__c":"ORPHA:98562"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=81386","Source__c":"C0311249","Xref__c":"MEDGEN:81386"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0311249","Source__c":"C0311249","Xref__c":"C0311249"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124520","Source__c":"C0311249; MONDO:0020153","Xref__c":"C124520"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111716","Source__c":"MONDO:0020153","Xref__c":"DOID:0111716"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001126","Source__c":"C0311249","Xref__c":"HP:0001126"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020153","Source__c":"GARD:0010505","Xref__c":"MONDO:0020153"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["cryptophthalmos"]}