{"Name":"X-linked agammaglobulinemia with growth hormone deficiency","DiseaseID__c":"GARD:0003921","id":3921,"encodedName":"x-linked-agammaglobulinemia-with-growth-hormone-deficiency","IsDeleted":false,"Disease_Name_Full__c":"X-linked agammaglobulinemia with growth hormone deficiency","Xref_IDs__c":"234533006; C0472813; C537149; DOID:0060875; MEDGEN:141630; MONDO:0010615; ORPHA:231692","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:231692","Disease_Description__c":null,"GARD_Name__c":"X-linked agammaglobulinemia with growth hormone deficiency","GARD_Synonym__c":"agammaglobulinemia and isolated growth hormone deficiency, x-linked; congenital ighd type iii; congenital isolated gh deficiency type iii; congenital isolated growth hormone deficiency type iii; fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; hypogammaglobulinemia and isolated growth hormone deficiency, x-linked; ighd iii; ighd3; isolated growth hormone deficiency type 3; isolated growth hormone deficiency type iii; isolated growth hormone deficiency, type iii; isolated growth hormone deficiency, type iii, with agammaglobulinemia; isolated growth hormone deficiency, type iii, with agammaglobulinemia, x-linked recessive; x-linked agammaglobulinemia and isolated growth hormone deficiency; x-linked hypogammaglobulinemia and isolated growth hormone deficiency; x-linked ighd; x-linked isolated growth hormone deficiency","Curated_Disease_Description_Source__c":"OMIM:307200","Curated_Disease_Description__c":"Isolated growth hormone deficiency type III (IGHD3) is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, and delayed bone age. It is caused by mutations in the BTK gene and follows an X-linked pattern of inheritance.","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:231692","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010615","ORPHANET_ID__c":"ORPHA:231692","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada de hormona de crecimiento tipo iii","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia aislada de hormona de crecimiento tipo iii","Spanish_GARD_Synonym__c":"deficiencia aislada de hormona de crecimiento ligada al cromosoma x; deficiencia congénita aislada de gh tipo iii; deficiencia congénita aislada de hormona de crecimiento tipo iii; ighd congénito tipo iii; ighd ligado al cromosoma x","Category_Linearization__c":"ORPHA:97978","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":"Isolated growth hormone deficiency type III (IGHD3) is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, and delayed bone age. It is caused by mutations in the BTK gene and follows an X-linked pattern of inheritance.","Curated_Disease_Description_Source__c":"OMIM:307200","GARD_Synonym__c":"agammaglobulinemia and isolated growth hormone deficiency, x-linked; congenital ighd type iii; congenital isolated gh deficiency type iii; congenital isolated growth hormone deficiency type iii; fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; hypogammaglobulinemia and isolated growth hormone deficiency, x-linked; ighd iii; ighd3; isolated growth hormone deficiency type 3; isolated growth hormone deficiency type iii; isolated growth hormone deficiency, type iii; isolated growth hormone deficiency, type iii, with agammaglobulinemia; isolated growth hormone deficiency, type iii, with agammaglobulinemia, x-linked recessive; x-linked agammaglobulinemia and isolated growth hormone deficiency; x-linked hypogammaglobulinemia and isolated growth hormone deficiency; x-linked ighd; x-linked isolated growth hormone deficiency","Name":"X-linked agammaglobulinemia with growth hormone deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.org/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231692"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231692"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537149","Source__c":"MONDO:0010615","Xref__c":"C537149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=141630","Source__c":"C0472813","Xref__c":"MEDGEN:141630"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234533006","Source__c":"C0472813; MONDO:0010615","Xref__c":"234533006"},{"URL__c":"https://www.orpha.net/en/disease/detail/231692","Source__c":"C0472813; MONDO:0010615","Xref__c":"ORPHA:231692"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0472813","Source__c":"C0472813","Xref__c":"C0472813"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060875","Source__c":"MONDO:0010615","Xref__c":"DOID:0060875"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010615","Source__c":"GARD:0003921","Xref__c":"MONDO:0010615"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BTK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/btk","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"],"Account":["Pituitary deficiency"]},"synonyms":["agammaglobulinemia and isolated growth hormone deficiency, x-linked"," congenital ighd type iii"," congenital isolated gh deficiency type iii"," congenital isolated growth hormone deficiency type iii"," fleisher syndrome"," growth hormone deficiency with hypogammaglobulinemia"," hypogammaglobulinemia and isolated growth hormone deficiency, x-linked"," ighd iii"," ighd3"," isolated growth hormone deficiency type 3"," isolated growth hormone deficiency type iii"," isolated growth hormone deficiency, type iii"," isolated growth hormone deficiency, type iii, with agammaglobulinemia"," isolated growth hormone deficiency, type iii, with agammaglobulinemia, x-linked recessive"," x-linked agammaglobulinemia and isolated growth hormone deficiency"," x-linked hypogammaglobulinemia and isolated growth hormone deficiency"," x-linked ighd"," x-linked isolated growth hormone deficiency"]}