{"Name":"Metaphyseal dysplasia, Braun-Tinschert type","DiseaseID__c":"GARD:0016738","id":16738,"encodedName":"metaphyseal-dysplasia-braun-tinschert-type","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal dysplasia, Braun-Tinschert type","Xref_IDs__c":"717221005; C1853825; C565271; MEDGEN:381277; MONDO:0011620; OMIM:605946; ORPHA:85188","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011620","Disease_Description__c":"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.","GARD_Name__c":"Metaphyseal dysplasia, Braun-Tinschert type","GARD_Synonym__c":"metaphyseal dysplasia braun tinschert type","Curated_Disease_Description_Source__c":"ORPHA:85188","Curated_Disease_Description__c":"Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:85188","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011620","ORPHANET_ID__c":"ORPHA:85188","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia metafisaria tipo braun-tinschert","Spanish_Description_Source__c":"ORPHA:85188","Spanish_Description__c":"La displasia metafisaria tipo Braun-Tinschert está caracterizada por submodelación metafisaria con ensanchamiento de los huesos largos y fémures con apariencia de 'matraz de Erlenmeyer', expansión e incurvación de los radios con deformidad en varo grave y exostosis plana de los huesos largos en las uniones metadiafisarias.","Spanish_Disease_Name__c":"displasia metafisaria tipo braun-tinschert","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":"Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.","Curated_Disease_Description_Source__c":"ORPHA:85188","GARD_Synonym__c":"metaphyseal dysplasia braun tinschert type","Name":"Metaphyseal dysplasia, Braun-Tinschert type","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:85188"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85188"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=381277","Source__c":"C1853825","Xref__c":"MEDGEN:381277"},{"URL__c":"https://www.omim.org/entry/605946","Source__c":"C1853825; 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Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100916","HPO_Synonym__c":"Increased bone density in middle finger bone of hand; Sclerosis of the middle phalanges of the hand","HPO_Name__c":"Sclerosis of middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85188","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85188","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010498","HPO_Name__c":"Bipartite patella","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85188","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006413","HPO_Synonym__c":"Broad wide portion of shankbone; Broad wide portion of shinbone","HPO_Name__c":"Broad tibial metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85188","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003986","HPO_Name__c":"Exostoses of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85188","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased cross-section (diameter) of the long bones. 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