{"Name":"Multiple epiphyseal dysplasia, with miniepiphyses","DiseaseID__c":"GARD:0017016","id":17016,"encodedName":"multiple-epiphyseal-dysplasia-with-miniepiphyses","IsDeleted":false,"Disease_Name_Full__c":"Multiple epiphyseal dysplasia, with miniepiphyses","Xref_IDs__c":"C1836307; C563735; MEDGEN:332176; MONDO:0012254; OMIM:609325; ORPHA:166032","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012254","Disease_Description__c":"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.","GARD_Name__c":"Multiple epiphyseal dysplasia, with miniepiphyses","GARD_Synonym__c":"multiple epiphyseal dysplasia with miniepiphyses","Curated_Disease_Description_Source__c":"MONDO:0012254","Curated_Disease_Description__c":"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:166032","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012254","ORPHANET_ID__c":"ORPHA:166032","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia epifisaria múltiple-miniepífisis","Spanish_Description_Source__c":"ORPHA:166032","Spanish_Description__c":"Es una displasia ósea primaria poco frecuente caracterizada por centros de osificación secundaria extremadamente pequeños (mini-epífisis) en todas o en algunas articulaciones, dando lugar a una displasia ósea grave de las cabezas femorales proximales. También se han descrito talla baja, aumento de la lordosis lumbar, genu vara y laxitud articular generalizada.","Spanish_Disease_Name__c":"síndrome de displasia epifisaria múltiple-miniepífisis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0012254","GARD_Synonym__c":"multiple epiphyseal dysplasia with miniepiphyses","Name":"Multiple epiphyseal dysplasia, with miniepiphyses","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:166032"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:166032"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332176","Source__c":"C1836307","Xref__c":"MEDGEN:332176"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836307","Source__c":"C1836307","Xref__c":"C1836307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563735","Source__c":"MONDO:0012254","Xref__c":"C563735"},{"URL__c":"https://www.omim.org/entry/609325","Source__c":"C1836307; MONDO:0012254; ORPHA:166032","Xref__c":"OMIM:609325"},{"URL__c":"https://www.orpha.net/en/disease/detail/166032","Source__c":"C1836307; MONDO:0012254","Xref__c":"ORPHA:166032"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766750008","Source__c":"C1836307","Xref__c":"766750008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012254","Source__c":"GARD:0017016","Xref__c":"MONDO:0012254"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["multiple epiphyseal dysplasia with miniepiphyses"]}