{ "id": 7217, "label": "hematologic disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005570", "properties": { "xrefs": [ "DOID:74", "EFO:0005803", "GTR:AN1320635", "ICD10CM:D50-D89", "ICD9:280-289", "ICD9:289.8", "ICD9:289.9", "MEDGEN:5483", "MESH:D006402", "NANDO:1100006", "NANDO:2100175", "NCIT:C26323", "Orphanet:97992", "SCTID:414022008", "UMLS:C0018939" ], "synonyms": [ "blood disease", "blood disorder", "disease of hematopoietic system", "disease of the blood and blood-forming organs", "disease or disorder of haematopoietic system", "disease or disorder of hematopoietic system", "disorder of haematopoietic system", "disorder of hematopoietic system", "haematological disease", "haematological disorder", "haematological system disease", "haematopoietic disease", "haematopoietic system disease or disorder", "hematologic and lymphocytic disorder", "hematologic disorder", "hematological disease", "hematological disorder", "hematological system disease", "hematopoietic disease", "hematopoietic system disease", "hematopoietic system disease or disorder", "rare hematologic disease", "haematological disorders and malignancies", "hematological disorders and malignancies" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving the hematopoietic system." }, "isLeaf": false, "isRoot": false, "child_count": 27, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 3016, "label": "autoimmune disorder of blood", "isLeaf": false, "isRoot": false, "parents": [ 7217, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060050" ], "synonyms": [ "blood autoimmune disease", "blood hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the blood." }, "child_count": 4, "reference_id": "MONDO:0000602" }, { "id": 3738, "label": "blood coagulation disease", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1247", "EFO:0009314", "ICD9:286", "ICD9:286.9", "ICD9:287.8", "MEDGEN:604", "MESH:D001778", "NCIT:C2902", "SCTID:64779008", "UMLS:C0005779" ], "synonyms": [ "blood coagulation disorder", "coagulation defect", "coagulation disorder", "coagulation disorder, blood", "coagulation disorders, blood", "coagulopathy", "disorder, blood coagulation", "disorders, blood coagulation" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." }, "child_count": 8, "reference_id": "MONDO:0001531" }, { "id": 4360, "label": "hemorrhagic disease", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2213", "ICD9:287.9", "MEDGEN:6799", "MESH:D006474", "NCIT:C115221", "UMLS:C0019087" ], "synonyms": [ "bleeding diathesis", "bleeding disorder", "bleeding predisposition", "bleeding tendency" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." }, "child_count": 28, "reference_id": "MONDO:0002243" }, { "id": 4362, "label": "blood platelet disease", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:57492", "MESH:D001791", "NCIT:C131634", "SCTID:22716005", "UMLS:C0151854" ], "synonyms": [ "platelet abnormality", "platelet disorder", "thrombocytopathy" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Disorders caused by abnormalities in platelet count or function." }, "child_count": 5, "reference_id": "MONDO:0002245" }, { "id": 4394, "label": "anemia", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2355", "HP:0001903", "ICD9:285.8", "ICD9:285.9", "MEDGEN:1526", "MESH:D000740", "NCIT:C2869", "SCTID:271737000", "UMLS:C0002871" ], "synonyms": [ "anaemia (disease)", "anemia", "anemia (disease)" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." }, "child_count": 19, "reference_id": "MONDO:0002280" }, { "id": 4438, "label": "splenic disorder", "isLeaf": false, "isRoot": false, "parents": [ 7217, 7447 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2529", "EFO:0009002", "ICD10CM:D73", "ICD9:289.50", "MEDGEN:21291", "MESH:D013158", "NCIT:C35823", "SCTID:51244008", "UMLS:C0037997" ], "synonyms": [ "disease of spleen", "disease or disorder of spleen", "disorder of spleen", "spleen disease", "spleen disease or disorder", "spleen disorder", "splenic disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving the spleen." }, "child_count": 16, "reference_id": "MONDO:0002332" }, { "id": 4440, "label": "hematopoietic and lymphoid system neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6798, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2531", "GARD:0023120", "MEDGEN:268180", "MESH:D019337", "NCIT:C35813", "SCTID:129154003", "UMLS:C1512393" ], "synonyms": [ "haematopoietic neoplasm", "haematopoietic neoplasm (morphologic abnormality)", "hematologic neoplasm", "hematopoietic neoplasm", "hematopoietic neoplasm (morphologic abnormality)", "blood neoplasm (disease)", "blood tumor", "blood tumour", "haematological tumours", "haematopoietic and lymphoid system tumour", "haematopoietic system neoplasm", "haematopoietic system tumour", "haematopoietic tumours", "hematopoietic and lymphoid system neoplasm", "hematopoietic and lymphoid system tumor", "hematopoietic system neoplasm", "hematopoietic system tumor", "neoplasm of blood", "neoplasm of haematopoietic system", "neoplasm of hematopoietic system", "tumor of blood", "tumor of hematopoietic system", "tumour of blood", "tumour of haematopoietic system", "blood cancer", "haematopoietic cancer", "hematologic malignancy", "hematopoietic cancer", "malignant haematopoietic neoplasm (morphologic abnormality)", "malignant hematopoietic neoplasm (morphologic abnormality)", "hematologic cancer", "malignant haematopoietic neoplasm" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" }, "child_count": 18, "reference_id": "MONDO:0002334" }, { "id": 4910, "label": "blood group incompatibility", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "CSP:0440-3703", "DOID:4176", "MEDGEN:609", "UMLS:C0005806" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0002901" }, { "id": 5177, "label": "bone marrow disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6893, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4961", "GARD:0023414", "ICD9:289.9", "MEDGEN:892905", "MESH:D001855", "NCIT:C34433", "SCTID:127035006", "UMLS:C4021634" ], "synonyms": [ "bone marrow disease", "bone marrow disease or disorder", "bone marrow disorder", "disease of bone marrow", "disease or disorder of bone marrow", "disorder of bone marrow" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any disease of the bone marrow." }, "child_count": 21, "reference_id": "MONDO:0003225" }, { "id": 5325, "label": "thymus gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6875, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:533", "GARD:0023497", "ICD9:254", "ICD9:254.9", "MEDGEN:57585", "NCIT:C26962", "SCTID:20673009", "UMLS:C0154199" ], "synonyms": [ "Thymus disorder", "disease of thymus", "disease or disorder of thymus", "disorder of thymus", "disorder of thymus gland", "thymus disease", "thymus disease or disorder", "thymus disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." }, "child_count": 9, "reference_id": "MONDO:0003393" }, { "id": 6569, "label": "leukocyte disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9500", "ICD9:288", "ICD9:288.9", "MEDGEN:7325", "MESH:D007960", "SCTID:54097007", "UMLS:C0023510" ], "synonyms": [ "disease of leukocyte", "disease or disorder of leukocyte", "disorder of leukocyte", "disorder, leukocyte", "disorders, leukocyte", "leukocyte disease", "leukocyte disease or disorder", "leukocyte disorder", "white blood cell disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving leukocytes." }, "child_count": 46, "reference_id": "MONDO:0004805" }, { "id": 6703, "label": "monoclonal gammopathy", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0000203", "GARD:0024137", "ICD10CM:D47.2", "MEDGEN:210153", "MESH:D010265", "NCIT:C35548", "SCTID:109983007", "UMLS:C1136085" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." }, "child_count": 3, "reference_id": "MONDO:0004960" }, { "id": 7549, "label": "septicemic plague", "isLeaf": true, "isRoot": false, "parents": [ 7217, 18984 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3481", "GARD:0024261", "ICD10CM:A20.7", "ICD9:020.2", "MEDGEN:56296", "SCTID:9012003", "UMLS:C0152936" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A plague in which the bacteria have entered the bloodstream." }, "child_count": 0, "reference_id": "MONDO:0005956" }, { "id": 8237, "label": "hyperamylasemia", "isLeaf": true, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000969", "GARD:0024473", "MEDGEN:105401", "MESH:D034321", "MedDRA:10062777", "UMLS:C0476327" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Abnormally high level of amylase in the blood." }, "child_count": 0, "reference_id": "MONDO:0006789" }, { "id": 9069, "label": "alpha thalassemia-intellectual disability syndrome type 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 17317 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:65", "DOID:0110029", "GARD:0016862", "ICD9:282.49", "MEDGEN:162892", "MESH:C563050", "NORD:1879", "OMIM:141750", "Orphanet:98791", "SCTID:277918006", "UMLS:C0795917" ], "synonyms": [ "ATR syndrome linked to chromosome 16", "ATR syndrome, deletion type", "ATR-16 Syndrome", "ATR-16 syndrome", "Alpha thalassemia-intellectual disability syndrome", "Alpha thalassemia-intellectual disability syndrome, deletion type", "Alpha thalassemia-mental retardation syndrome", "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16", "alpha thalassemia-intellectual disability syndrome, deletion type", "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "alpha-thalassemia/intellectual disability syndrome, deletion-type", "alpha-thalassemia/intellectual disability syndrome, type 1", "alpha-thalassemia/mental retardation syndrome, deletion-type", "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related", "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related", "ATR, deletion-type", "Alpha-thalassemia/intellectual disability syndrome, deletion-type", "Alpha-thalassemia/mental retardation syndrome, deletion-type", "Haemoglobin H-related intellectual disability", "Haemoglobin H-related mental retardation", "Hemoglobin H-related intellectual disability", "Hemoglobin H-related mental retardation", "chromosome 16P deletion syndrome", "intellectual disability with Haemoglobin H", "intellectual disability with Hemoglobin H", "mental retardation with Haemoglobin H", "mental retardation with Hemoglobin H" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." }, "child_count": 0, "reference_id": "MONDO:0007716" }, { "id": 10141, "label": "Bloom syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 7611, 16625, 18950, 20044, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2717", "GARD:0000915", "ICD10CM:Q82.2", "ICD9:757.39", "MEDGEN:2685", "MESH:D001816", "NANDO:1200333", "NANDO:2200707", "NCIT:C2903", "NORD:863", "OMIM:210900", "Orphanet:125", "SCTID:4434006", "UMLS:C0005859", "icd11.foundation:1838213890" ], "synonyms": [ "BSyn", "Bloom syndrome", "Bloom-Torre-Machacek syndrome", "congenital telangiectatic erythema syndrome", "BLM", "BLS", "BS", "MGRISCE1", "congenital telangiectatic erythema", "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "microcephaly, growth restriction, and increased sister chromatid exchange 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." }, "child_count": 0, "reference_id": "MONDO:0008876" }, { "id": 10564, "label": "congenital hematological disorder", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:760584", "NCIT:C104003", "UMLS:C3267032" ], "synonyms": [ "congenital haematological system disease", "congenital hematological disorder", "congenital hematological system disease" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disorder of the blood that is present at birth." }, "child_count": 21, "reference_id": "MONDO:0009332" }, { "id": 11498, "label": "alpha-thalassemia-myelodysplastic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112125", "GARD:0017167", "ICD9:282.49", "MEDGEN:108433", "MESH:C563023", "OMIM:300448", "Orphanet:231401", "SCTID:307343001", "UMLS:C0585216" ], "synonyms": [ "ATMDS", "acquired HbH disease", "acquired haemoglobin H disease", "acquired hemoglobin H disease", "alpha-thalassemia myelodysplasia syndrome, somatic", "ALPHA-thalassemia myelodysplasia syndrome", "Haemoglobin H disease, acquired", "Hemoglobin H disease, acquired" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." }, "child_count": 0, "reference_id": "MONDO:0010328" }, { "id": 14568, "label": "deafness-lymphedema-leukemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 19154, 23106 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013030", "ICD9:757.0", "MEDGEN:481294", "OMIM:614038", "Orphanet:3226", "SCTID:700057001", "UMLS:C3279664", "icd11.foundation:1818043307" ], "synonyms": [ "Emberger syndrome", "deafness-lymphedema-leukemia syndrome", "lymphedema, primary, with myelodysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." }, "child_count": 0, "reference_id": "MONDO:0013540" }, { "id": 15279, "label": "L-ferritin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7217 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017748", "MEDGEN:816420", "OMIM:615604", "Orphanet:440731", "UMLS:C3810090" ], "synonyms": [ "L-ferritin deficiency", "L-ferritin deficiency, dominant and recessive", "LFTD" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014274" }, { "id": 15685, "label": "dyskeratosis congenita, autosomal dominant 6", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7217, 16534, 24293 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070023", "GARD:0016136", "MEDGEN:904824", "NCIT:C176924", "OMIM:616553", "UMLS:C4225284" ], "synonyms": [ "DKCA6", "dyskeratosis congenita, autosomal dominant 6", "dyskeratosis congenita, autosomal dominant type 6", "autosomal dominant dyskeratosis congenita 6", "dyskeratosis congenita, autosomal recessive 7" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1." }, "child_count": 0, "reference_id": "MONDO:0014690" }, { "id": 18669, "label": "polyclonal hyperviscosity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021887", "MEDGEN:1814466", "Orphanet:450322", "UMLS:C5681102" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018678" }, { "id": 21347, "label": "parasitemia", "isLeaf": true, "isRoot": false, "parents": [ 6859, 7217 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:116650", "MESH:D018512", "UMLS:C0242723" ], "synonyms": [ "Parasitemias" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" }, "child_count": 0, "reference_id": "MONDO:0024314" }, { "id": 23347, "label": "erythrocyte disorder", "isLeaf": false, "isRoot": false, "parents": [ 7217 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:289.9", "MEDGEN:526127", "SCTID:38292009", "UMLS:C0221016" ], "synonyms": [ "disease of erythrocyte", "disease or disorder of erythrocyte", "disorder of erythrocyte", "erythrocyte disease", "erythrocyte disease or disorder", "red blood cell disease", "red blood cell disorder" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease or disorder that involves the erythrocyte." }, "child_count": 2, "reference_id": "MONDO:0044347" }, { "id": 23758, "label": "premalignant hematological system disease", "isLeaf": false, "isRoot": false, "parents": [ 7217, 20315 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026011", "MEDGEN:233342", "NCIT:C27274", "UMLS:C1335471" ], "synonyms": [ "premalignant hematologic condition" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." }, "child_count": 4, "reference_id": "MONDO:0060782" }, { "id": 23840, "label": "GATA1-Related X-Linked Cytopenia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7217 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026040", "MEDGEN:335283", "UMLS:C1845837" ], "synonyms": [ "GATA1-Related Cytopenia", "GATA1-Related X-Linked Cytopenia" ], "categories": [ { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." }, "child_count": 6, "reference_id": "MONDO:0100089" }, { "id": 24648, "label": "paraneoplastic hematological syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7217, 20314 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026398" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Paraneoplastic syndrome that involves the hematopoietic system." }, "child_count": 4, "reference_id": "MONDO:0700253" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }