{"Name":"Microspherophakia-metaphyseal dysplasia syndrome","DiseaseID__c":"GARD:0005481","id":5481,"encodedName":"microspherophakia-metaphyseal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microspherophakia-metaphyseal dysplasia syndrome","Xref_IDs__c":"C1834880; C536540; MEDGEN:322520; MONDO:0007998; OMIM:157151; ORPHA:2551","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007998","Disease_Description__c":"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.","GARD_Name__c":"Microspherophakia-metaphyseal dysplasia syndrome","GARD_Synonym__c":"microspherophakia-metaphyseal dysplasia; verloes-van maldergem-de marneffe syndrome","Curated_Disease_Description_Source__c":"MONDO:0007998","Curated_Disease_Description__c":"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.","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:2551","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007998","ORPHANET_ID__c":"ORPHA:2551","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microesferofaquia-displasia metafisaria","Spanish_Description_Source__c":"ORPHA:2551","Spanish_Description__c":"La microesferofaquia-displasia metafisaria es un síndrome muy raro que asocia displasia ósea con enanismo micromélico y defectos oculares.","Spanish_Disease_Name__c":"síndrome de microesferofaquia-displasia metafisaria","Spanish_GARD_Synonym__c":"síndrome de verloes-van maldergem-marneffe","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":"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.","Curated_Disease_Description_Source__c":"MONDO:0007998","GARD_Synonym__c":"microspherophakia-metaphyseal dysplasia; verloes-van maldergem-de marneffe syndrome","Name":"Microspherophakia-metaphyseal dysplasia syndrome","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":"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":"Neonatal","Provided_By__c":"ORPHA:2551"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2551"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2551","Source__c":"C1834880; MONDO:0007998","Xref__c":"ORPHA:2551"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536540","Source__c":"MONDO:0007998","Xref__c":"C536540"},{"URL__c":"https://www.omim.org/entry/157151","Source__c":"C1834880; MONDO:0007998; ORPHA:2551","Xref__c":"OMIM:157151"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834880","Source__c":"C1834880","Xref__c":"C1834880"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322520","Source__c":"C1834880","Xref__c":"MEDGEN:322520"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007998","Source__c":"GARD:0005481","Xref__c":"MONDO:0007998"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["microspherophakia-metaphyseal dysplasia"," verloes-van maldergem-de marneffe syndrome"]}