{"Name":"Multinodular goiter-cystic kidney-polydactyly syndrome","DiseaseID__c":"GARD:0001671","id":1671,"encodedName":"multinodular-goiter-cystic-kidney-polydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Multinodular goiter-cystic kidney-polydactyly syndrome","Xref_IDs__c":"723409007; C1841853; C535986; MEDGEN:333929; MONDO:0007680; OMIM:138790; ORPHA:2091","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007680","Disease_Description__c":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.","GARD_Name__c":"Multinodular goiter-cystic kidney-polydactyly syndrome","GARD_Synonym__c":"daneman davy mancer syndrome; daneman-davy-mancer syndrome; mng/crd/da; multinodular goiter, cystic kidney, polydactyly syndrome; multinodular goiter/cystic renal disease/digital anomalies; thyroid-renal-digital anomalies; thyroid, renal, digital anomaly syndrome","Curated_Disease_Description_Source__c":"MONDO:0007680","Curated_Disease_Description__c":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2091","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007680","ORPHANET_ID__c":"ORPHA:2091","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bocio multinodular-riñón quístico-polidactilia","Spanish_Description_Source__c":"ORPHA:2091","Spanish_Description__c":"El síndrome de bocio multinodular-riñón quístico-polidactilia es un síndrome muy poco frecuente caracterizado por la asociación de bocio multinodular, enfermedad renal quística y anomalías digitales.","Spanish_Disease_Name__c":"síndrome de bocio multinodular-riñón quístico-polidactilia","Spanish_GARD_Synonym__c":"síndrome de daneman-davy-mancer","Category_Linearization__c":"ORPHA:93890","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":"Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.","Curated_Disease_Description_Source__c":"MONDO:0007680","GARD_Synonym__c":"daneman davy mancer syndrome; daneman-davy-mancer syndrome; mng/crd/da; multinodular goiter, cystic kidney, polydactyly syndrome; multinodular goiter/cystic renal disease/digital anomalies; thyroid-renal-digital anomalies; thyroid, renal, digital anomaly syndrome","Name":"Multinodular goiter-cystic kidney-polydactyly 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2091"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2091"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333929","Source__c":"C1841853","Xref__c":"MEDGEN:333929"},{"URL__c":"https://www.omim.org/entry/138790","Source__c":"C1841853; MONDO:0007680; ORPHA:2091","Xref__c":"OMIM:138790"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723409007","Source__c":"C1841853; MONDO:0007680","Xref__c":"723409007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535986","Source__c":"MONDO:0007680","Xref__c":"C535986"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1841853","Source__c":"C1841853","Xref__c":"C1841853"},{"URL__c":"https://www.orpha.net/en/disease/detail/2091","Source__c":"C1841853; MONDO:0007680; ORPHA:2091","Xref__c":"ORPHA:2091"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007680","Source__c":"GARD:0001671","Xref__c":"MONDO:0007680"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2091","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2091","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2091","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005987","HPO_Name__c":"Multinodular goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2091","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Duplication of all or part of the first ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001841","HPO_Synonym__c":"Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet","HPO_Name__c":"Preaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2091","HPO_Frequency__c":"Frequent (30-79%)","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":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["daneman davy mancer syndrome"," daneman-davy-mancer syndrome"," mng/crd/da"," multinodular goiter, cystic kidney, polydactyly syndrome"," multinodular goiter/cystic renal disease/digital anomalies"," thyroid-renal-digital anomalies"," thyroid, renal, digital anomaly syndrome"]}