{"Name":"Isolated cryptophthalmia","DiseaseID__c":"GARD:0016797","id":16797,"encodedName":"isolated-cryptophthalmia","IsDeleted":false,"Disease_Name_Full__c":"Isolated cryptophthalmia","Xref_IDs__c":"718691008; C1852453; C565138; DOID:0111717; MEDGEN:342242; MONDO:0007410; OMIM:123570; ORPHA:91396","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007410","Disease_Description__c":"A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral crytophthalmia have been described.","GARD_Name__c":"Isolated cryptophthalmia","GARD_Synonym__c":"ankyloblepharon, simple; cryptophthalmos, unilateral or bilateral, isolated; nonsyndromic cryptophthalmia","Curated_Disease_Description_Source__c":"ORPHA:91396","Curated_Disease_Description__c":"Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:91396","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007410","ORPHANET_ID__c":"ORPHA:91396","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Criptoftalmia aislada","Spanish_Description_Source__c":"ORPHA:91396","Spanish_Description__c":"Es una anomalía congénita poco frecuente en la que los párpados están ausentes y la piel cubre el globo ocular, que a menudo es microftálmico. Se han descrito algunos casos de criptoftalmía bilateral completa.","Spanish_Disease_Name__c":"criptoftalmia aislada","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":"Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:91396","GARD_Synonym__c":"ankyloblepharon, simple; cryptophthalmos, unilateral or bilateral, isolated; nonsyndromic cryptophthalmia","Name":"Isolated cryptophthalmia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:91396"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91396"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718691008","Source__c":"MONDO:0007410","Xref__c":"718691008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111717","Source__c":"MONDO:0007410","Xref__c":"DOID:0111717"},{"URL__c":"https://www.orpha.net/en/disease/detail/91396","Source__c":"C1852453; MONDO:0007410","Xref__c":"ORPHA:91396"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565138","Source__c":"MONDO:0007410","Xref__c":"C565138"},{"URL__c":"https://www.omim.org/entry/123570","Source__c":"C1852453; MONDO:0007410; ORPHA:91396","Xref__c":"OMIM:123570"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852453","Source__c":"C1852453","Xref__c":"C1852453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342242","Source__c":"C1852453","Xref__c":"MEDGEN:342242"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007410","Source__c":"GARD:0016797","Xref__c":"MONDO:0007410"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FREM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/frem2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:123570","Feature__r":{"HPO_Description__c":"Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009755","HPO_Synonym__c":"Adhesion of eyelids; Ankyloblepharon filiforme adnatum; Eyelid synechiae; Eyelids stuck together; Fused eyelid","HPO_Name__c":"Ankyloblepharon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123570","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123570","Feature__r":{"HPO_Description__c":"Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001126","HPO_Name__c":"Cryptophthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:123570","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["ankyloblepharon, simple"," cryptophthalmos, unilateral or bilateral, isolated"," nonsyndromic cryptophthalmia"]}