{"Name":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome","DiseaseID__c":"GARD:0017030","id":17030,"encodedName":"spondyloepimetaphyseal-dysplasia-abnormal-dentition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome","Xref_IDs__c":"C1866507; C566644; MEDGEN:356550; MONDO:0011124; OMIM:601668; ORPHA:168451","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011124","Disease_Description__c":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia with abnormal dentition; spondyloepimetaphyseal dysplasia, abnormal dentition syndrome","Curated_Disease_Description_Source__c":"MONDO:0011124","Curated_Disease_Description__c":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:168451","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011124","ORPHANET_ID__c":"ORPHA:168451","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia espondiloepimetafisaria-dentición anómala","Spanish_Description_Source__c":"ORPHA:168451","Spanish_Description__c":"El síndrome de displasia espondiloepimetafisaria - dentición anómala, es una displasia ósea primaria poco frecuente, caracterizada por la asociación de anomalías dentales (oligodontia con incisivos puntiagudos) y platispondilia generalizada con afectación epifisaria y metafisaria. Otras características adicionales son dedos finos y afilados, así como pliegues palmares acentuados.","Spanish_Disease_Name__c":"síndrome de displasia espondiloepimetafisaria-dentición anómala","Spanish_GARD_Synonym__c":"semdad","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":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.","Curated_Disease_Description_Source__c":"MONDO:0011124","GARD_Synonym__c":"spondyloepimetaphyseal dysplasia with abnormal dentition; spondyloepimetaphyseal dysplasia, abnormal dentition syndrome","Name":"Spondyloepimetaphyseal dysplasia-abnormal dentition 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":"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:168451"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866507","Source__c":"C1866507","Xref__c":"C1866507"},{"URL__c":"https://www.omim.org/entry/601668","Source__c":"C1866507; MONDO:0011124; ORPHA:168451","Xref__c":"OMIM:601668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356550","Source__c":"C1866507","Xref__c":"MEDGEN:356550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566644","Source__c":"MONDO:0011124","Xref__c":"C566644"},{"URL__c":"https://www.orpha.net/en/disease/detail/168451","Source__c":"C1866507; MONDO:0011124; ORPHA:168451","Xref__c":"ORPHA:168451"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773302000","Source__c":"C1866507","Xref__c":"773302000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011124","Source__c":"GARD:0017030","Xref__c":"MONDO:0011124"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["spondyloepimetaphyseal dysplasia with abnormal dentition"," spondyloepimetaphyseal dysplasia, abnormal dentition syndrome"]}