{"Name":"Ring chromosome 4 syndrome","DiseaseID__c":"GARD:0001339","id":1339,"encodedName":"ring-chromosome-4-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ring chromosome 4 syndrome","Xref_IDs__c":"81678004; C0265407; C121983; C537636; MEDGEN:75571; MONDO:0015439; ORPHA:1447","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015439","Disease_Description__c":"Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.","GARD_Name__c":"Ring chromosome 4 syndrome","GARD_Synonym__c":"r(4) syndrome; ring 4; ring chromosome 4; ring chromosome type 4; rose cluster 4; syndrome r(4)","Curated_Disease_Description_Source__c":"MONDO:0015439","Curated_Disease_Description__c":"Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1447","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015439","ORPHANET_ID__c":"ORPHA:1447","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del cromosoma 4 en anillo","Spanish_Description_Source__c":"ORPHA:1447","Spanish_Description__c":"El síndrome del cromosoma 4 en anillo, es una anomalía autosómica caracterizada por manifestaciones clínicas variables que, por lo general, incluyen retraso significativo del crecimiento intrauterino y postnatal, retraso del desarrollo, discapacidad intelectual, microcefalia y características faciales dismórficas. Algunas características menos frecuentes son labio leporino y/o paladar hendido, así como anomalías congénitas del sistema cardiovascular, gastrointestinal y genitourinario.","Spanish_Disease_Name__c":"síndrome del cromosoma 4 en anillo","Spanish_GARD_Synonym__c":"anillo 4; cromosoma 4 en anillo; síndrome r(4)","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":"Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.","Curated_Disease_Description_Source__c":"MONDO:0015439","GARD_Synonym__c":"r(4) syndrome; ring 4; ring chromosome 4; ring chromosome type 4; rose cluster 4; syndrome r(4)","Name":"Ring chromosome 4 syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:1447"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1447"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265407"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1447","Source__c":"C0265407; MONDO:0015439; ORPHA:1447","Xref__c":"ORPHA:1447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537636","Source__c":"MONDO:0015439","Xref__c":"C537636"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81678004","Source__c":"C0265407; MONDO:0015439","Xref__c":"81678004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265407","Source__c":"C0265407","Xref__c":"C0265407"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75571","Source__c":"C0265407","Xref__c":"MEDGEN:75571"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121983","Source__c":"MONDO:0015439","Xref__c":"C121983"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015439","Source__c":"GARD:0001339","Xref__c":"MONDO:0015439"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1447","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1447","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small/hypoplastic or absent/aplastic radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006501","HPO_Synonym__c":"Absence or underdevelopment of the radius bone of the arm; Absent/small radius; Absent/underdeveloped radius; Radial aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1447","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1447","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["r(4) syndrome"," ring 4"," ring chromosome 4"," ring chromosome type 4"," rose cluster 4"," syndrome r(4)"]}