{ "id": 18953, "label": "inherited hemoglobinopathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019050", "properties": { "xrefs": [ "DOID:2860", "GARD:0018883", "ICD9:282.7", "MESH:D006453", "MedDRA:10060892", "NCIT:C3092", "Orphanet:68364", "SCTID:427306008" ], "synonyms": [ "Hemoglobinopathies / iron metabolism", "hereditary hemoglobinopathy", "hemoglobinopathy" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." }, "isLeaf": false, "isRoot": false, "child_count": 17, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 23348, "label": "hemoglobinopathy", "isLeaf": false, "isRoot": false, "parents": [ 23347 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:282.7", "MEDGEN:42400", "SCTID:80141007", "UMLS:C0019045" ], "synonyms": [ "hemoglobinopathy", "globin abnormality", "haemoglobin disease", "haemoglobin disorder", "hemoglobin disease", "hemoglobin disorder" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0044348" } ], "children": [ { "id": 3252, "label": "thalassemia", "isLeaf": false, "isRoot": false, "parents": [ 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10241", "EFO:1001996", "GARD:0007756", "ICD10CM:D56", "ICD9:282.4", "ICD9:282.40", "ICD9:282.49", "MEDGEN:21121", "MESH:D013789", "NANDO:2200626", "NCIT:C35069", "SCTID:40108008", "UMLS:C0039730" ], "synonyms": [ "sickle-cell thalassemia with crisis", "sickle-cell thalassemia without crisis" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." }, "child_count": 2, "reference_id": "MONDO:0000984" }, { "id": 7998, "label": "congenital nonspherocytic hemolytic anemia", "isLeaf": false, "isRoot": false, "parents": [ 3000, 5573, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2861", "EFO:1000641", "GARD:0024433", "ICD9:282.3", "MEDGEN:284", "MESH:D000746", "OMIMPS:300908", "SCTID:301317008", "UMLS:C0002882" ], "synonyms": [ "anemia, congenital, nonspherocytic hemolytic" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." }, "child_count": 30, "reference_id": "MONDO:0006506" }, { "id": 9793, "label": "sulfhemoglobinemia, congenital", "isLeaf": true, "isRoot": false, "parents": [ 8412, 10564, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024625", "MEDGEN:350024", "MESH:C566102", "OMIM:185460", "UMLS:C1861437" ], "synonyms": [ "sulfhemoglobinemia, congenital" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008502" }, { "id": 12489, "label": "sickle cell disease", "isLeaf": false, "isRoot": false, "parents": [ 7611, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081445", "DOID:10923", "GARD:0008614", "ICD10CM:D57.2", "ICD9:282.6", "ICD9:282.60", "ICD9:282.63", "MEDGEN:287", "MESH:D000755", "MedDRA:10040641", "NANDO:2200624", "NCIT:C34383", "NORD:1714", "OMIM:603903", "Orphanet:232", "UMLS:C0002895" ], "synonyms": [ "Haemoglobin S disease without crisis", "Hb-S/Hb-C disease", "Sickle Cell Disease", "sickle cell anemia", "sickle cell disease", "sickle-cell/Hb-C disease without crisis", "sickling disorder due to Haemoglobin S", "sickling disorder due to Hemoglobin S", "HPA 1 recognition polymorphism, beta-globin-related", "HPA1", "Haemoglobin S disease", "HbS disease", "Hemoglobin S disease", "restriction fragment length polymorphism, sickle cell Anemia-related" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." }, "child_count": 4, "reference_id": "MONDO:0011382" }, { "id": 16816, "label": "hemoglobin C disease", "isLeaf": true, "isRoot": false, "parents": [ 4394, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2859", "GARD:0027866", "ICD9:282.7", "MEDGEN:6789", "MESH:C531699", "MESH:D006445", "MedDRA:10018883", "NANDO:2200635", "NCIT:C34675", "Orphanet:2132", "SCTID:51053007", "UMLS:C0019021" ], "synonyms": [ "Hb C disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." }, "child_count": 0, "reference_id": "MONDO:0016242" }, { "id": 16817, "label": "hemoglobin E disease", "isLeaf": true, "isRoot": false, "parents": [ 4394, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5379", "GARD:0002641", "ICD9:282.7", "MEDGEN:68658", "MedDRA:10053215", "NCIT:C35287", "Orphanet:2133", "SCTID:25065001", "UMLS:C0238159", "icd11.foundation:1898135714" ], "synonyms": [ "hemoglobin E disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." }, "child_count": 0, "reference_id": "MONDO:0016243" }, { "id": 17135, "label": "sickle cell-beta-thalassemia disease syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010333", "MEDGEN:452211", "MedDRA:10040655", "MedDRA:10055579", "NCIT:C95539", "Orphanet:251359", "SCTID:127041004", "UMLS:C0221019" ], "synonyms": [ "Hb S-Beta thalassemia", "HbS-beta-thalassemia syndrome", "S-Beta thalassemia", "sickle cell-Beta thalassemia", "sickle cell-Beta-thalassemia", "sickle cell-beta-thalassemia disease syndrome", "Haemoglobin sickle-beta thalassemia", "Hb S beta-thalassemia", "HbS - beta-thalassemia", "Hemoglobin sickle-beta thalassemia", "sickle beta thalassemia", "sickle cell - beta-thalassemia disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." }, "child_count": 4, "reference_id": "MONDO:0016668" }, { "id": 17137, "label": "sickle cell-hemoglobin d disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012458", "MEDGEN:452366", "MedDRA:10056724", "Orphanet:251370", "UMLS:C0272084" ], "synonyms": [ "HbSD disease", "sickle cell - haemoglobin D disease", "sickle cell - hemoglobin D disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0016670" }, { "id": 17138, "label": "sickle cell-hemoglobin E disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020700", "MEDGEN:1669602", "Orphanet:251375", "UMLS:C1112747" ], "synonyms": [ "HbSE disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)." }, "child_count": 0, "reference_id": "MONDO:0016671" }, { "id": 17139, "label": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018648", "HGNC:3627", "HGNC:5153", "MEDGEN:1679967", "Orphanet:251380", "UMLS:C5190890" ], "synonyms": [ "HPFH-sickle cell disease syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF." }, "child_count": 0, "reference_id": "MONDO:0016672" }, { "id": 17501, "label": "beta-thalassemia and related diseases", "isLeaf": false, "isRoot": false, "parents": [ 4394, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021023", "MEDGEN:1826095", "Orphanet:275749", "UMLS:C5680748" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 14, "reference_id": "MONDO:0017145" }, { "id": 17576, "label": "hemoglobinopathy Toms River", "isLeaf": true, "isRoot": false, "parents": [ 4394, 14541, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017297", "MEDGEN:1683555", "Orphanet:280615", "UMLS:C5190689" ], "synonyms": [ "transient neonatal cyanosis and anaemia due to Toms River Haemoglobin", "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017238" }, { "id": 18885, "label": "hereditary methemoglobinemia", "isLeaf": false, "isRoot": false, "parents": [ 3365, 4394, 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002659", "ICD10CM:D74.0", "MEDGEN:473013", "MESH:C580280", "NCIT:C98898", "Orphanet:621", "SCTID:267550008", "UMLS:C0272087", "icd11.foundation:586921197" ], "synonyms": [ "autosomal recessive methemoglobinemia", "congenital methemoglobinemia", "hereditary methemoglobinemia" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." }, "child_count": 15, "reference_id": "MONDO:0018963" }, { "id": 19347, "label": "hemoglobin D disease", "isLeaf": true, "isRoot": false, "parents": [ 4394, 18953 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5378", "GARD:0019103", "ICD9:282.7", "MEDGEN:124416", "MedDRA:10055019", "NCIT:C35344", "Orphanet:90039", "SCTID:66729008", "UMLS:C0272080", "icd11.foundation:1508363690" ], "synonyms": [ "hemoglobin D disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." }, "child_count": 0, "reference_id": "MONDO:0019537" }, { "id": 19918, "label": "unstable hemoglobin disease", "isLeaf": true, "isRoot": false, "parents": [ 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019670", "ICD9:282.7", "MEDGEN:82893", "NANDO:2200625", "Orphanet:99139", "SCTID:18273004", "UMLS:C0272006" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020459" }, { "id": 20256, "label": "hereditary persistence of fetal hemoglobin", "isLeaf": true, "isRoot": false, "parents": [ 18953 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025271", "ICD10CM:D56.4", "ICD9:282.7", "MEDGEN:5495", "NCIT:C129072", "SCTID:191201002", "UMLS:C0019025" ], "synonyms": [ "hereditary persistence of fetal hemoglobin", "Disease, Haemoglobin F", "Disease, Hemoglobin F", "HEMOGLOBIN F DIS", "HPFH - Hereditary persistence of fetal hemoglobin", "HPFH - Hereditary persistence of foetal haemoglobin", "Haemoglobin F Disease", "Hb F disease", "Hemoglobin F Disease", "Hereditary Persistence of Fetal Hemoglobin", "Hereditary Persistence of Foetal Haemoglobin", "Hereditary persistence of fetal hemoglobin", "Hereditary persistence of foetal haemoglobin" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." }, "child_count": 0, "reference_id": "MONDO:0020989" }, { "id": 26303, "label": "homozygous hemoglobin O Arab disease", "isLeaf": true, "isRoot": false, "parents": [ 18953 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:700111" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979355" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 23348, "label": "hemoglobinopathy" } ] }