{"Name":"Ring chromosome 5","DiseaseID__c":"GARD:0010841","id":10841,"encodedName":"ring-chromosome-5","IsDeleted":false,"Disease_Name_Full__c":"Ring chromosome 5","Xref_IDs__c":"765487008; C121984; C4050064; MEDGEN:881956; MONDO:0016654; ORPHA:251043","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016654","Disease_Description__c":"Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).","GARD_Name__c":"Ring chromosome 5","GARD_Synonym__c":"ring 5; ring chromosome 5 syndrome; ring chromosome type 5; rose cluster 5","Curated_Disease_Description_Source__c":"MONDO:0016654","Curated_Disease_Description__c":"Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).","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:251043","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016654","ORPHANET_ID__c":"ORPHA:251043","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cromosoma 5 en anillo","Spanish_Description_Source__c":"ORPHA:251043","Spanish_Description__c":"Es una anomalía cromosómica poco frecuente con una gran variabilidad fenotípica. Está caracterizado principalmente por llanto neonatal semejante al maullido de gato, grave retraso en el desarrollo y discapacidad intelectual, talla baja, hipotonía, características dismórficas (incluyendo microcefalia, asimetría facial, hipertelorismo, pliegues epicánticos, orejas anómalas, micro/retrognatia), anomalías cardíacas congénitas (tales como defecto septal atrial y ventricular, insuficiencia tricuspidea, aorta hipoplásica) y anomalías esqueléticas (p. ej., pulgares hipoplásicos, cúbito/radio anómalo, metacarpianos y falanges displásicos).","Spanish_Disease_Name__c":"síndrome del cromosoma 5 en anillo","Spanish_GARD_Synonym__c":"anillo 5; cromosoma 5 en anillo","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":"Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).","Curated_Disease_Description_Source__c":"MONDO:0016654","GARD_Synonym__c":"ring 5; ring chromosome 5 syndrome; ring chromosome type 5; rose cluster 5","Name":"Ring chromosome 5","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Infancy","Provided_By__c":"ORPHA:251043"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:251043"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4050064"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121984","Source__c":"C4050064; MONDO:0016654","Xref__c":"C121984"},{"URL__c":"https://www.orpha.net/en/disease/detail/251043","Source__c":"C4050064; MONDO:0016654","Xref__c":"ORPHA:251043"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=881956","Source__c":"C4050064","Xref__c":"MEDGEN:881956"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4050064","Source__c":"C4050064","Xref__c":"C4050064"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765487008","Source__c":"MONDO:0016654","Xref__c":"765487008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016654","Source__c":"GARD:0010841","Xref__c":"MONDO:0016654"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["ring 5"," ring chromosome 5 syndrome"," ring chromosome type 5"," rose cluster 5"]}