{
  "id": 19232,
  "label": "congenital dyserythropoietic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019403",
  "properties": {
    "xrefs": [
      "DOID:1338",
      "GARD:0001999",
      "ICD10CM:D64.4",
      "ICD9:285.8",
      "MEDGEN:8064",
      "MESH:D000742",
      "NANDO:1200885",
      "NANDO:2100178",
      "NANDO:2200615",
      "NCIT:C84646",
      "OMIMPS:224120",
      "Orphanet:85",
      "SCTID:52951008",
      "UMLS:C0002876",
      "icd11.foundation:899830967"
    ],
    "synonyms": [
      "CDA",
      "anemia, congenital dyserythropoietic",
      "congenital dyshaematopoietic anaemia",
      "congenital dyshaematopoietic anemia",
      "dyserythropoietic anemia, congenital"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:589",
          "GARD:0006167",
          "ICD9:282",
          "ICD9:282.9",
          "MEDGEN:1919",
          "MESH:D000745",
          "NANDO:2100183",
          "NCIT:C34379",
          "SCTID:42601008",
          "UMLS:C0002881"
        ],
        "synonyms": [
          "congenital hemolytic anemia",
          "hereditary hemolytic anemia",
          "anaemia hemolytic congenital",
          "anemia hemolytic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."
      },
      "child_count": 46,
      "reference_id": "MONDO:0003689"
    }
  ],
  "children": [
    {
      "id": 8522,
      "label": "congenital dyserythropoietic anemia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111399",
          "GARD:0002002",
          "ICD9:285.8",
          "MEDGEN:1801596",
          "NANDO:1200888",
          "OMIM:105600",
          "Orphanet:98870",
          "SCTID:26409005",
          "UMLS:C5676874"
        ],
        "synonyms": [
          "CDA III",
          "CDA type 3",
          "CDA type III",
          "congenital dyserythropoietic anemia type 3",
          "dyserythropoietic anemia, congenital, type III",
          "CDA 3",
          "CDAN3",
          "Erythroreticulosis, hereditary benign",
          "anaemia with multinucleated erythroblasts",
          "anemia with multinucleated erythroblasts",
          "anemia, congenital dyserythropoietic, type III",
          "dyserythropoietic Anemia, congenital, type 3",
          "dyserythropoietic anemia, congenital type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007109"
    },
    {
      "id": 10378,
      "label": "congenital dyserythropoietic anemia type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        17978,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111401",
          "GARD:0002001",
          "ICD9:285.8",
          "MEDGEN:266296",
          "NANDO:1200887",
          "OMIM:224100",
          "Orphanet:98873",
          "SCTID:68870007",
          "UMLS:C1306589"
        ],
        "synonyms": [
          "CDA II",
          "CDA type 2",
          "CDA type II",
          "SEC23B-CDG",
          "congenital dyserythropoietic anemia type 2",
          "dyserythropoietic anemia, congenital, type II",
          "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)",
          "CDAN2",
          "Cda 2",
          "anemia, congenital dyserythropoietic, type 2",
          "anemia, congenital dyserythropoietic, type II",
          "anemia, dyserythropoietic, congenital type 2",
          "dyserythropoietic Anemia, congenital, type 2",
          "dyserythropoietic Anemia, hempas type",
          "hempas anaemia",
          "hempas anemia",
          "hereditary erythroblastic multinuclearity with Positive acidified-serum test"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009134"
    },
    {
      "id": 11604,
      "label": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19232,
        23840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112156",
          "GARD:0017574",
          "MEDGEN:763770",
          "OMIM:300835",
          "Orphanet:363727",
          "UMLS:C3550856"
        ],
        "synonyms": [
          "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive",
          "XLANP",
          "anemia, X-linked, with or without neutropenia and/or platelet abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010444"
    },
    {
      "id": 14032,
      "label": "pancreatic insufficiency-anemia-hyperostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3874,
        18360,
        19232,
        22753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017095",
          "MEDGEN:436369",
          "MESH:C567195",
          "OMIM:612714",
          "Orphanet:199337",
          "SCTID:722207000",
          "UMLS:C2675184"
        ],
        "synonyms": [
          "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome",
          "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012992"
    },
    {
      "id": 14388,
      "label": "congenital dyserythropoietic anemia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111400",
          "GARD:0017344",
          "MEDGEN:462276",
          "OMIM:613673",
          "Orphanet:293825",
          "SCTID:719453009",
          "UMLS:C3150926"
        ],
        "synonyms": [
          "CDA IV",
          "CDA due to KLF1 mutation",
          "CDA type 4",
          "CDA type IV",
          "CDAN4",
          "congenital dyserythropoietic anemia due to KLF1 mutation",
          "congenital dyserythropoietic anemia type 4",
          "dyserythropoietic anemia, congenital, type IV",
          "CDA, type 4",
          "anemia, congenital dyserythropoietic, type 4",
          "anemia, congenital dyserythropoietic, type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013355"
    },
    {
      "id": 18943,
      "label": "thrombocytopenia with congenital dyserythropoietic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11478,
        19232,
        23840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016676",
          "MEDGEN:928177",
          "Orphanet:67044",
          "SCTID:722475006",
          "UMLS:C4302508"
        ],
        "synonyms": [
          "X-linked congenital dyserythropoietic anaemia with thrombocytopenia",
          "X-linked congenital dyserythropoietic anemia with thrombocytopenia",
          "XDAT",
          "congenital dyserythropoietic anaemia with thombocytopenia",
          "congenital dyserythropoietic anemia with thombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019031"
    },
    {
      "id": 19805,
      "label": "congenital dyserythropoietic anemia type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111396",
          "GARD:0002000",
          "MEDGEN:82891",
          "NANDO:1200886",
          "Orphanet:98869",
          "SCTID:59548005",
          "UMLS:C0271933"
        ],
        "synonyms": [
          "CDA I",
          "CDA type 1",
          "CDA type I",
          "congenital dyserythropoietic anemia type 1",
          "anemia, dyserythropoietic, congenital type 1",
          "dyserythropoietic anemia, congenital type 1",
          "type I congenital dyserythropoietic anaemia",
          "type I congenital dyserythropoietic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020337"
    },
    {
      "id": 22015,
      "label": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051001",
          "GARD:0025619",
          "MEDGEN:1800829",
          "OMIM:619789",
          "UMLS:C5676940"
        ],
        "synonyms": [
          "CDA, IIA IIIB",
          "CDAN3B",
          "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030711"
    },
    {
      "id": 26120,
      "label": "anemia, congenital dyserythropoietic, type IVb",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19232
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051002",
          "GARD:0027326",
          "MEDGEN:1874968",
          "OMIM:620969",
          "UMLS:C5975438"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975829"
    }
  ],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    }
  ]
}