{"Name":"Sickle cell-hemoglobin D disease","DiseaseID__c":"GARD:0012458","id":12458,"encodedName":"sickle-cell-hemoglobin-d-disease","IsDeleted":false,"Disease_Name_Full__c":"Sickle cell-hemoglobin D disease","Xref_IDs__c":"25472008; C0272084; C155310; MEDGEN:452366; MONDO:0016670; ORPHA:251370","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016670","Disease_Description__c":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.","GARD_Name__c":"Sickle cell-hemoglobin D disease","GARD_Synonym__c":"double heterozygous for hb s + hb d punjab; hbs-hbd disease; hbsd disease; hemoglobin s-d disease; hemoglobin s/d punjab disease; hemoglobin sd; sickle cell anemia with hemoglobin d disease; sickle cell hemoglobin d; sickle cell-hemoglobin d disease syndrome","Curated_Disease_Description_Source__c":"MONDO:0016670","Curated_Disease_Description__c":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251370","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016670","ORPHANET_ID__c":"ORPHA:251370","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia falciforme s-d punjab","Spanish_Description_Source__c":"ORPHA:251370","Spanish_Description__c":"Es una hemoglobinopatía poco frecuente de origen genético que se manifiesta con todas las características de la anemia falciforme (ACS). El curso clínico es similar al de la anemia falciforme, incluyendo episodios agudos de dolor, infarto esplénico y crisis de secuestro esplénico, crisis vaso-oclusiva, síndrome torácico agudo, lesión cerebral isquémica, osteomielitis y necrosis ósea avascular. El genotipo se caracteriza por un alelo HbS en combinación con la variante HbD, beta121Glu>Gln.","Spanish_Disease_Name__c":"anemia falciforme s-d punjab","Spanish_GARD_Synonym__c":"anemia de células falciformes s-d punjab; anemia de células falciformes-hemoglobina d; anemia falciforme-hemoglobina d; enfermedad de la hemoglobina s-d punjab; enfermedad hbsd","Category_Linearization__c":"ORPHA:97992","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":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.","Curated_Disease_Description_Source__c":"MONDO:0016670","GARD_Synonym__c":"double heterozygous for hb s + hb d punjab; hbs-hbd disease; hbsd disease; hemoglobin s-d disease; hemoglobin s/d punjab disease; hemoglobin sd; sickle cell anemia with hemoglobin d disease; sickle cell hemoglobin d; sickle cell-hemoglobin d disease syndrome","Name":"Sickle cell-hemoglobin D disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sickle Cell Consortium","Website__c":"https://sicklecellconsortium.org/"},{"Account_Name__c":"Sickle Cell Disease Association of America","Website__c":"https://www.sicklecelldisease.org/"},{"Account_Name__c":"Sickle Cell Disease Foundation","Website__c":"https://www.scdfc.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:251370"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0272084"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012458","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=452366","Source__c":"C0272084","Xref__c":"MEDGEN:452366"},{"URL__c":"https://www.orpha.net/en/disease/detail/251370","Source__c":"C0272084; MONDO:0016670; ORPHA:251370","Xref__c":"ORPHA:251370"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272084","Source__c":"C0272084","Xref__c":"C0272084"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C155310","Source__c":"C0272084","Xref__c":"C155310"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016670","Source__c":"GARD:0012458","Xref__c":"MONDO:0016670"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=25472008","Source__c":"C0272084","Xref__c":"25472008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["double heterozygous for hb s + hb d punjab"," hbs-hbd disease"," hbsd disease"," hemoglobin s-d disease"," hemoglobin s/d punjab disease"," hemoglobin sd"," sickle cell anemia with hemoglobin d disease"," sickle cell hemoglobin d"," sickle cell-hemoglobin d disease syndrome"]}