{"Name":"Microphthalmia, isolated, with coloboma","DiseaseID__c":"GARD:0003644","id":3644,"encodedName":"microphthalmia-isolated-with-coloboma","IsDeleted":false,"Disease_Name_Full__c":"Microphthalmia, isolated, with coloboma","Xref_IDs__c":"C2931500; C537463; MEDGEN:444071; MONDO:0000170; OMIMPS:300345; ORPHA:98938","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000170","Disease_Description__c":"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.","GARD_Name__c":"Microphthalmia, isolated, with coloboma","GARD_Synonym__c":"colobomatous microphthalmia; mac; microphthalmia with colobomatous cyst; microphthalmia-anophthalmia-coloboma syndrome","Curated_Disease_Description_Source__c":"MONDO:0000170","Curated_Disease_Description__c":"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:98938","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000170","ORPHANET_ID__c":"ORPHA:98938","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microftalmia colobomatosa","Spanish_Description_Source__c":"ORPHA:98938","Spanish_Description__c":"La microftalmia colobomatosa es un trastorno del desarrollo del ojo que se caracteriza por una microftalmia unilateral o bilateral asociada con un coloboma ocular.","Spanish_Disease_Name__c":"microftalmia colobomatosa","Spanish_GARD_Synonym__c":"mac; microftalmia con quistes colobomatosos; síndrome de microftalmia-anoftalmia-coloboma","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":"Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.","Curated_Disease_Description_Source__c":"MONDO:0000170","GARD_Synonym__c":"colobomatous microphthalmia; mac; microphthalmia with colobomatous cyst; microphthalmia-anophthalmia-coloboma syndrome","Name":"Microphthalmia, isolated, with coloboma","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Children's Anophthalmia Network","Website__c":"https://anophthalmia.org/"},{"Account_Name__c":"Microphthalmia, Anophthalmia & Coloboma Support","Website__c":"https://macs.org.uk/"}],"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":"Neonatal","Provided_By__c":"ORPHA:98938"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:98938"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003644","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537463","Source__c":"MONDO:0000170","Xref__c":"C537463"},{"URL__c":"https://www.orpha.net/en/disease/detail/98938","Source__c":"C2931500; MONDO:0000170","Xref__c":"ORPHA:98938"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931500","Source__c":"C2931500","Xref__c":"C2931500"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS300345","Source__c":"MONDO:0000170","Xref__c":"OMIMPS:300345"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444071","Source__c":"C2931500","Xref__c":"MEDGEN:444071"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000170","Source__c":"GARD:0003644","Xref__c":"MONDO:0000170"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gdf3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"STRA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PORCN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/porcn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TENM3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RBP4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ALDH1A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"VSX2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OTX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/otx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["colobomatous microphthalmia"," mac"," microphthalmia with colobomatous cyst"," microphthalmia-anophthalmia-coloboma syndrome"]}