{"Name":"Brachyrachia (short spine dysplasia)","DiseaseID__c":"GARD:0010429","id":10429,"encodedName":"brachyrachia-short-spine-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Brachyrachia (short spine dysplasia)","Xref_IDs__c":"717264003; C0432227; MEDGEN:96583; MONDO:0007232; OMIM:113500; ORPHA:93304","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007232","Disease_Description__c":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.","GARD_Name__c":"Brachyrachia (short spine dysplasia)","GARD_Synonym__c":"autosomal dominant brachyolmia; bcym3; brachyolmia type 3; brachyolmia, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0007232","Curated_Disease_Description__c":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93304","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007232","ORPHANET_ID__c":"ORPHA:93304","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquiolmia autosómica dominante","Spanish_Description_Source__c":"ORPHA:93304","Spanish_Description__c":"Es una forma relativamente grave de braquiolmia, un grupo de trastornos esqueléticos poco frecuente de origen genético caracterizado por talla baja de tronco corto, platispondilia y cifoescoliosis. En la edad adulta se hace manifiesta la enfermedad articular degenerativa (osteoartropatía) en la columna vertebral, grandes articulaciones y articulaciones interfalángicas.","Spanish_Disease_Name__c":"braquiolmia autosómica dominante","Spanish_GARD_Synonym__c":"braquiolmia tipo 3","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":"A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.","Curated_Disease_Description_Source__c":"MONDO:0007232","GARD_Synonym__c":"autosomal dominant brachyolmia; bcym3; brachyolmia type 3; brachyolmia, autosomal dominant","Name":"Brachyrachia (short spine dysplasia)","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:93304"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010429","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.orpha.net/en/disease/detail/93304","Source__c":"C0432227; MONDO:0007232; ORPHA:93304","Xref__c":"ORPHA:93304"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96583","Source__c":"C0432227","Xref__c":"MEDGEN:96583"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432227","Source__c":"C0432227","Xref__c":"C0432227"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717264003","Source__c":"C0432227; MONDO:0007232","Xref__c":"717264003"},{"URL__c":"https://www.omim.org/entry/113500","Source__c":"C0432227; MONDO:0007232; ORPHA:93304","Xref__c":"OMIM:113500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007232","Source__c":"GARD:0010429","Xref__c":"MONDO:0007232"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased top to bottom height of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004570","HPO_Synonym__c":"Tall vertebral bodies","HPO_Name__c":"Increased vertebral height","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93304","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["autosomal dominant brachyolmia"," bcym3"," brachyolmia type 3"," brachyolmia, autosomal dominant"]}