{"Name":"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","DiseaseID__c":"GARD:0016681","id":16681,"encodedName":"anhidrotic-ectodermal-dysplasia-immunodeficiency-osteopetrosis-lymphedema-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","Xref_IDs__c":"720986005; C4303737; C564538; MEDGEN:929406; MONDO:0010295; ORPHA:69088","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010295","Disease_Description__c":"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.","GARD_Name__c":"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","GARD_Synonym__c":"anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome; ol-eda-id; ol-eda-id (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome","Curated_Disease_Description_Source__c":"MONDO:0010295","Curated_Disease_Description__c":"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.","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:69088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010295","ORPHANET_ID__c":"ORPHA:69088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia ectodérmica hipohidrótica-inmunodeficiencia-osteopetrosis-linfedema","Spanish_Description_Source__c":"ORPHA:69088","Spanish_Description__c":"Este síndrome se caracteriza por: inmunodeficiencia grave, osteopetrosis, linfedema y displasia ectodermal anhídrotica.","Spanish_Disease_Name__c":"síndrome de displasia ectodérmica hipohidrótica-inmunodeficiencia-osteopetrosis-linfedema","Spanish_GARD_Synonym__c":null,"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":"This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.","Curated_Disease_Description_Source__c":"MONDO:0010295","GARD_Synonym__c":"anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome; ol-eda-id; ol-eda-id (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome","Name":"Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndro","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:69088"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69088"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564538","Source__c":"MONDO:0010295","Xref__c":"C564538"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929406","Source__c":"C4303737","Xref__c":"MEDGEN:929406"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303737","Source__c":"C4303737","Xref__c":"C4303737"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720986005","Source__c":"C4303737; MONDO:0010295","Xref__c":"720986005"},{"URL__c":"https://www.orpha.net/en/disease/detail/69088","Source__c":"C4303737; MONDO:0010295; ORPHA:69088","Xref__c":"ORPHA:69088"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010295","Source__c":"GARD:0016681","Xref__c":"MONDO:0010295"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IKBKG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ikbkg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Immunology","Dermatology","Orthopedics","Vascular Medicine","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies","Ectodermal dysplasia"]},"synonyms":["anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome"," ol-eda-id"," ol-eda-id (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome"]}