{"Name":"Growth retardation-mild developmental delay-chronic hepatitis syndrome","DiseaseID__c":"GARD:0021621","id":21621,"encodedName":"growth-retardation-mild-developmental-delay-chronic-hepatitis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Growth retardation-mild developmental delay-chronic hepatitis syndrome","Xref_IDs__c":"C4751595; MEDGEN:1654119; MONDO:0018317; ORPHA:391366","USA_Estimate__c":"1,000","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":"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:391366","Disease_Description__c":"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.","GARD_Name__c":"Growth retardation-mild developmental delay-chronic hepatitis syndrome","GARD_Synonym__c":"growth retardation, mild developmental delay, chronic hepatitis syndrome","Curated_Disease_Description_Source__c":"ORPHA:391366","Curated_Disease_Description__c":"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.","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:391366","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018317","ORPHANET_ID__c":"ORPHA:391366","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de retraso del crecimiento-retraso del desarrollo leve-hepatitis crónica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de retraso del crecimiento-retraso del desarrollo leve-hepatitis crónica","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","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":"Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.","Curated_Disease_Description_Source__c":"ORPHA:391366","GARD_Synonym__c":"growth retardation, mild developmental delay, chronic hepatitis syndrome","Name":"Growth retardation-mild developmental delay-chronic hepatitis 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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:391366"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:391366"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751595","Source__c":"C4751595","Xref__c":"C4751595"},{"URL__c":"https://www.orpha.net/en/disease/detail/391366","Source__c":"C4751595; MONDO:0018317; ORPHA:391366","Xref__c":"ORPHA:391366"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1654119","Source__c":"C4751595","Xref__c":"MEDGEN:1654119"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018317","Source__c":"GARD:0021621","Xref__c":"MONDO:0018317"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774204006","Source__c":"C4751595","Xref__c":"774204006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SH2B3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["growth retardation, mild developmental delay, chronic hepatitis syndrome"]}