{ "id": 6569, "label": "leukocyte disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0004805", "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." }, "isLeaf": false, "isRoot": false, "child_count": 23, "parents": [ { "id": 6778, "label": "immune system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2914", "EFO:0000540", "ICD9:279", "ICD9:279.1", "ICD9:279.10", "ICD9:279.19", "ICD9:279.4", "ICD9:279.49", "ICD9:279.8", "ICD9:279.9", "MEDGEN:5759", "MESH:D007154", "NANDO:1100004", "NANDO:2100202", "NCIT:C3507", "SCTID:414029004", "UMLS:C0021053" ], "synonyms": [ "disease of immune system", "disease or disorder of immune system", "disorder of immune system", "immune disease", "immune disorder", "immune dysfunction", "immune system disease or disorder", "immune system disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder resulting from an abnormality in the immune system." }, "child_count": 47, "reference_id": "MONDO:0005046" }, { "id": 7217, "label": "hematologic disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "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." }, "child_count": 27, "reference_id": "MONDO:0005570" } ], "children": [ { "id": 2776, "label": "human monocytic ehrlichiosis", "isLeaf": true, "isRoot": false, "parents": [ 6569, 16645 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050026", "GARD:0000072", "ICD9:082.41", "MEDGEN:1826179", "NORD:1254", "SCTID:359747000", "UMLS:C3844799" ], "synonyms": [ "Human Monocytic Ehrlichiosis (HME)", "human ehrlichiosis due to Ehrlichia chaffeensis", "HME", "Human ehrlichial infection, human monocytic type", "human ehrlichiosis caused by Ehrlichia chaffeensis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." }, "child_count": 0, "reference_id": "MONDO:0000225" }, { "id": 4332, "label": "B cell deficiency", "isLeaf": false, "isRoot": false, "parents": [ 5658, 6569, 20334 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2115", "GARD:0023084", "ICD9:279.03", "MEDGEN:340780", "NCIT:C4799", "UMLS:C1855067" ], "synonyms": [ "B-cell deficiency", "deficiency of humoral immunity", "immunoglobulin heavy chain deficiency", "immunoglobulin heavy chain deletion" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." }, "child_count": 15, "reference_id": "MONDO:0002211" }, { "id": 5664, "label": "leukopenia", "isLeaf": false, "isRoot": false, "parents": [ 6569 ], "type_id": 0, "properties": { "xrefs": [ "DOID:615", "ICD9:288.50", "MEDGEN:6073", "MESH:D007970", "NCIT:C26816", "SCTID:84828003", "UMLS:C0023530" ], "synonyms": [ "White blood cell decreased", "leukocytopenia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." }, "child_count": 2, "reference_id": "MONDO:0003785" }, { "id": 5930, "label": "B-cell neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6569, 6792 ], "type_id": 0, "properties": { "xrefs": [ "DOID:707", "GARD:0005877", "MEDGEN:86953", "MESH:D016393", "NCIT:C27907", "UMLS:C0079731" ], "synonyms": [ "B-cell neoplasm", "B-cell lymphoma", "lymphoma, B-cell" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." }, "child_count": 10, "reference_id": "MONDO:0004095" }, { "id": 6193, "label": "dendritic cell sarcoma", "isLeaf": false, "isRoot": false, "parents": [ 3028, 6569, 6816, 19729 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7849", "GARD:0019082", "MEDGEN:226984", "NCIT:C27260", "ONCOTREE:DCS", "Orphanet:86903", "SCTID:446643000", "UMLS:C1301364" ], "synonyms": [ "dendritic cell sarcoma", "sarcoma of dendritic cell" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A sarcoma that involves the dendritic cell." }, "child_count": 12, "reference_id": "MONDO:0004380" }, { "id": 6844, "label": "human granulocytic anaplasmosis", "isLeaf": true, "isRoot": false, "parents": [ 6569, 8355, 21670 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050025", "EFO:0000777", "GARD:0000071", "ICD10CM:A79.82", "ICD9:082.49", "MEDGEN:96911", "MESH:D000712", "NCIT:C128425", "SCTID:13906002", "SCTID:427481004", "SCTID:85708001", "UMLS:C0483368" ], "synonyms": [ "HGA", "anaplasma caused disease or disorder", "anaplasmoses", "anaplasmosis", "human anaplasmosis", "human anaplasmosis caused by Anaplasma phagocytophilum", "infection by Anaplasma phagocytophilum", "HGE", "human ehrlichial infection, human granulocytic type", "human granulocytic ehrlichiosis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." }, "child_count": 0, "reference_id": "MONDO:0005118" }, { "id": 7179, "label": "T-cell leukemia", "isLeaf": false, "isRoot": false, "parents": [ 6569, 7079 ], "type_id": 0, "properties": { "xrefs": [ "DOID:715", "EFO:0005592", "GARD:0024203", "MEDGEN:6064", "MESH:D015458", "UMLS:C0023492" ], "synonyms": [ "T cell leukaemia (disease)", "T cell leukemia (disease)", "leukaemia (disease) of T cell", "leukemia (disease) of T cell" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." }, "child_count": 6, "reference_id": "MONDO:0005525" }, { "id": 7512, "label": "phagocyte bactericidal dysfunction", "isLeaf": false, "isRoot": false, "parents": [ 5658, 6569, 21541 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3262", "EFO:0007433", "GARD:0024253", "MEDGEN:14713", "MESH:D010585", "UMLS:C0031306" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." }, "child_count": 3, "reference_id": "MONDO:0005910" }, { "id": 7744, "label": "EBV-positive T-cell lymphoproliferative disorder of childhood", "isLeaf": false, "isRoot": false, "parents": [ 6569, 6891 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024323", "MEDGEN:397515", "NCIT:C80373", "UMLS:C2699838" ], "synonyms": [ "EBV-positive T-cell lymphoproliferative disease of childhood", "EBV-positive T-cell lymphoproliferative disorder of childhood" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." }, "child_count": 4, "reference_id": "MONDO:0006188" }, { "id": 7935, "label": "small intestinal enteropathy-associated T-cell lymphoma", "isLeaf": true, "isRoot": false, "parents": [ 3028, 4030, 6569, 19298 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000535", "GARD:0024406", "MEDGEN:275445", "NCIT:C39610", "UMLS:C1519371" ], "synonyms": [ "enteropathy-associated T-cell lymphoma of small intestine", "small intestinal EATL", "small intestinal enteropathy-type T-cell lymphoma", "small intestine enteropathy-associated T-cell lymphoma" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." }, "child_count": 0, "reference_id": "MONDO:0006418" }, { "id": 8142, "label": "pituitary gland basophil adenoma", "isLeaf": true, "isRoot": false, "parents": [ 5530, 6569, 7896 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4542", "EFO:1000834", "GARD:0024457", "ICDO:8300/0", "MEDGEN:1746", "MESH:D000237", "NCIT:C2856", "UMLS:C0001431" ], "synonyms": [ "basophilic adenoma", "basophilic pituitary gland adenoma", "mucoid cell adenoma", "pituitary basophilic adenoma", "basophil adenoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." }, "child_count": 0, "reference_id": "MONDO:0006673" }, { "id": 8276, "label": "leukostasis", "isLeaf": true, "isRoot": false, "parents": [ 6569 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12986", "EFO:1001016", "GARD:0024481", "MEDGEN:84394", "MESH:D018921", "MedDRA:10024404", "UMLS:C0282548" ], "synonyms": [ "leukostasis (morphologic abnormality)" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." }, "child_count": 0, "reference_id": "MONDO:0006831" }, { "id": 9280, "label": "mastocytosis", "isLeaf": false, "isRoot": false, "parents": [ 4762, 6569 ], "type_id": 0, "properties": { "xrefs": [ "DOID:350", "EFO:0009001", "GARD:0006987", "ICD10WHO:Q82.2", "MEDGEN:9902", "MESH:D008415", "MedDRA:10026891", "NCIT:C84269", "NORD:1408", "ONCOTREE:MCD", "Orphanet:98292", "UMLS:C0024899", "icd11.foundation:691643472" ], "synonyms": [ "Mast cell disease", "mastocytosis", "MAST cell disease", "urticaria pigmentosa" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." }, "child_count": 10, "reference_id": "MONDO:0007950" }, { "id": 9410, "label": "hereditary neutrophilia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6569 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090120", "GARD:0017287", "MEDGEN:154252", "MESH:C563010", "OMIM:162830", "Orphanet:279943", "SCTID:129639005", "UMLS:C0543669" ], "synonyms": [ "neutrophilia, hereditary" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." }, "child_count": 0, "reference_id": "MONDO:0008092" }, { "id": 9522, "label": "Pelger-Huet anomaly", "isLeaf": true, "isRoot": false, "parents": [ 2903, 6569, 20345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9631", "EFO:1001093", "GARD:0009148", "MEDGEN:10617", "MESH:D010381", "MedDRA:10029377", "NCIT:C85002", "OMIM:169400", "SCTID:85559002", "UMLS:C0030779", "icd11.foundation:1210390183" ], "synonyms": [ "Pelger-Huet anomaly", "PHA", "Pelger Huet anomaly", "Pelger-Huet nuclear anomaly", "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." }, "child_count": 0, "reference_id": "MONDO:0008214" }, { "id": 16630, "label": "functional neutrophil defect", "isLeaf": false, "isRoot": false, "parents": [ 6569 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020321", "MEDGEN:1863601", "Orphanet:183681", "SCTID:105600002", "UMLS:C5924997", "icd11.foundation:808756909" ], "synonyms": [ "neutrophil disease", "neutrophilopathy" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0015978" }, { "id": 17386, "label": "thymoma type B", "isLeaf": false, "isRoot": false, "parents": [ 6569, 7959 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3282", "GARD:0020893", "MEDGEN:231253", "NCIT:C7114", "Orphanet:263317", "UMLS:C1328042" ], "synonyms": [ "Dendritic cell thymoma", "dendritic cell thymoma", "dendritic cell thymoma (disease)", "epithelioid thymoma", "plump cell thymoma", "primary thymic epithelial neoplasm type B", "primary thymic epithelial tumor type B", "primary thymic epithelial tumour type B", "thymoma type B" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." }, "child_count": 6, "reference_id": "MONDO:0016974" }, { "id": 17680, "label": "POEMS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6569, 16613, 18348, 24647, 24648 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14039", "EFO:1001115", "GARD:0007411", "MEDGEN:39276", "MESH:D016878", "MedDRA:10053869", "NANDO:1200033", "NCIT:C80303", "NORD:1586", "Orphanet:2905", "SCTID:79268002", "UMLS:C0085404", "icd11.foundation:1555299114" ], "synonyms": [ "Crow-Fukase syndrome", "PEP syndrome", "POEMS syndrome", "Takatsuki syndrome", "osteosclerotic myeloma", "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome", "polyneuropathy organomegaly", "polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." }, "child_count": 0, "reference_id": "MONDO:0017364" }, { "id": 18407, "label": "Langerhans cell histiocytosis", "isLeaf": false, "isRoot": false, "parents": [ 4688, 6569, 19729, 21541 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2571", "EFO:1000318", "GARD:0006858", "ICD9:202.5", "ICD9:277.89", "ICDO:9751/1", "ICDO:9751/3", "ICDO:9752/1", "ICDO:9753/1", "ICDO:9754/3", "MEDGEN:5568", "MedDRA:10069698", "NANDO:2200031", "NCIT:C3107", "NORD:1348", "OMIM:604856", "ONCOTREE:LCH", "Orphanet:389", "SCTID:65399007", "UMLS:C0019621", "icd11.foundation:1388720498", "icd11.foundation:216625985" ], "synonyms": [ "LCH", "Langerhans cell granulomatosis", "Langerhans cell histiocytosis", "Langerhans cell histiocytosis, NOS", "Langerhans cell histiocytosis, Not otherwise specified", "histiocytosis X", "Langerhans-cell histiocytosis", "Lch" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." }, "child_count": 32, "reference_id": "MONDO:0018310" }, { "id": 19300, "label": "subcutaneous panniculitis-like T-cell lymphoma", "isLeaf": true, "isRoot": false, "parents": [ 3028, 6569, 16568, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070662", "EFO:1000552", "GARD:0010193", "ICD10CM:C86.3", "ICD9:202.70", "ICDO:9708/3", "MEDGEN:99306", "MESH:C537503", "NANDO:2200030", "NCIT:C6918", "OMIM:618398", "ONCOTREE:SPTCL", "Orphanet:86884", "SCTID:404133000", "UMLS:C0522624", "icd11.foundation:1550338805" ], "synonyms": [ "SPTCL", "subcutaneous panniculitic T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)", "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type", "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." }, "child_count": 0, "reference_id": "MONDO:0019475" }, { "id": 23204, "label": "eosinophil peroxidase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6569, 7611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012361", "MEDGEN:342386", "MESH:C564893", "OMIM:261500", "SCTID:711160007", "UMLS:C1850000" ], "synonyms": [ "eosinophil peroxidase deficiency", "EPXD", "Presentey anomaly", "eosinophil peroxidase deficiency, Partial", "eosinophil peroxidase deficiency, partial", "peroxidase and phospholipid deficiency in eosinophils", "presentey anomaly" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." }, "child_count": 0, "reference_id": "MONDO:0043364" }, { "id": 23489, "label": "eosinophil disorder", "isLeaf": false, "isRoot": false, "parents": [ 6569 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:739396", "SCTID:417967008", "UMLS:C1691020" ], "synonyms": [ "disease of eosinophil", "disease or disorder of eosinophil", "disorder of eosinophil", "eosinophil disease or disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease or disorder that involves the eosinophil." }, "child_count": 1, "reference_id": "MONDO:0044972" }, { "id": 23764, "label": "mast cell activation syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6569 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012981", "MEDGEN:1698540", "MESH:D000090267", "UMLS:C5200989" ], "synonyms": [ "MACS", "disorder of mast cell activation", "mast cell activation disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." }, "child_count": 3, "reference_id": "MONDO:0100004" } ], "roots": [ { "id": 6778, "label": "immune system disorder" }, { "id": 7217, "label": "hematologic disorder" } ] }