{"Name":"Say-field-Coldwell syndrome","DiseaseID__c":"GARD:0000242","id":242,"encodedName":"say-field-coldwell-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Say-field-Coldwell syndrome","Xref_IDs__c":"C1860805; C536619; MEDGEN:348711; MONDO:0008606; OMIM:190650","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008606","Disease_Description__c":"Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.","GARD_Name__c":"Say-field-Coldwell syndrome","GARD_Synonym__c":"say field coldwell syndrome; triphalangeal thumb and dislocation of patella syndrome; triphalangeal thumbs and dislocation of patella; triphalangeal thumbs-dislocation of patella syndrome","Curated_Disease_Description_Source__c":"MONDO:0008606","Curated_Disease_Description__c":"Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008606","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.","Curated_Disease_Description_Source__c":"MONDO:0008606","GARD_Synonym__c":"say field coldwell syndrome; triphalangeal thumb and dislocation of patella syndrome; triphalangeal thumbs and dislocation of patella; triphalangeal thumbs-dislocation of patella syndrome","Name":"Say-field-Coldwell syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348711","Source__c":"C1860805","Xref__c":"MEDGEN:348711"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860805","Source__c":"C1860805","Xref__c":"C1860805"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536619","Source__c":"MONDO:0008606","Xref__c":"C536619"},{"URL__c":"https://www.omim.org/entry/190650","Source__c":"C1860805; MONDO:0008606","Xref__c":"OMIM:190650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733456002","Source__c":"C1860805","Xref__c":"733456002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008606","Source__c":"GARD:0000242","Xref__c":"MONDO:0008606"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:190650","Feature__r":{"HPO_Description__c":"Patellar dislocation occurring repeated times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005001","HPO_Synonym__c":"Recurrent dislocation of patellas","HPO_Name__c":"Recurrent patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:190650","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":"OMIM:190650","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["say field coldwell syndrome"," triphalangeal thumb and dislocation of patella syndrome"," triphalangeal thumbs and dislocation of patella"," triphalangeal thumbs-dislocation of patella syndrome"]}