{
  "id": 3888,
  "label": "megaloblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001700",
  "properties": {
    "xrefs": [
      "DOID:13382",
      "HP:0001889",
      "ICD9:281.3",
      "MEDGEN:1527",
      "NANDO:2100176",
      "NANDO:2200612",
      "NCIT:C34382",
      "SCTID:53165003",
      "UMLS:C0002888"
    ],
    "synonyms": [
      "megaloblastic anaemia (disease)",
      "megaloblastic anemia",
      "megaloblastic anemia (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4395,
      "label": "macrocytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2361",
          "HP:0001972",
          "MEDGEN:1920",
          "MESH:D000748",
          "NCIT:C34381",
          "SCTID:83414005",
          "UMLS:C0002886"
        ],
        "synonyms": [
          "D22S676",
          "D22S750",
          "anaemia macrocytic",
          "anemia macrocytic",
          "macrocytic Anemia",
          "macrocytic anaemia (disease)",
          "macrocytic anaemia of unspecified cause",
          "macrocytic anemia",
          "macrocytic anemia (disease)",
          "macrocytic anemia of unspecified cause"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia that is characterized by increased red blood cell volume."
      },
      "child_count": 2,
      "reference_id": "MONDO:0002281"
    }
  ],
  "children": [
    {
      "id": 9535,
      "label": "pernicious anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        5714,
        8312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13381",
          "EFO:0005576",
          "GARD:0027356",
          "ICD10CM:D51.0",
          "ICD9:281.0",
          "MEDGEN:1531",
          "MESH:D000752",
          "NCIT:C2871",
          "OMIM:170900",
          "Orphanet:120",
          "SCTID:84027009",
          "UMLS:C0002892"
        ],
        "synonyms": [
          "Addison anaemia",
          "Addison anemia",
          "Addison's anemia",
          "Addison-Biermer anaemia",
          "Addison-Biermer anemia",
          "Biermer anaemia",
          "Biermer anemia",
          "Biermer disease",
          "acquired pernicious anaemia",
          "acquired pernicious anemia",
          "anaemia pernicious",
          "anemia pernicious",
          "intrinsic factor deficiency",
          "juvenile onset pernicious anaemia",
          "juvenile onset pernicious anemia",
          "pernicious anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008228"
    },
    {
      "id": 10481,
      "label": "hereditary folate malabsorption",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632,
        20033
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111678",
          "GARD:0012983",
          "MEDGEN:83348",
          "MESH:C562799",
          "NANDO:1200810",
          "NANDO:2200592",
          "NCIT:C156424",
          "OMIM:229050",
          "Orphanet:90045",
          "SCTID:62578003",
          "UMLS:C0342705",
          "icd11.foundation:773545237"
        ],
        "synonyms": [
          "congenital folate malabsorption",
          "congenital defect of folate absorption",
          "folate malabsorption, hereditary",
          "folic acid transport defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009238"
    },
    {
      "id": 10483,
      "label": "formiminoglutamic aciduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111679",
          "GARD:0009279",
          "ICD9:270.8",
          "MEDGEN:82823",
          "MESH:C537425",
          "OMIM:229100",
          "Orphanet:51208",
          "SCTID:59761008",
          "UMLS:C0268609",
          "icd11.foundation:664824338"
        ],
        "synonyms": [
          "FTCD deficiency",
          "formiminoglutamic aciduria",
          "formiminotransferase cyclodeaminase deficiency",
          "glutamate formiminotransferase deficiency",
          "Arakawa syndrome 1",
          "Figlu-Uria",
          "Formiminoglutamicaciduria (FIGLU-Uria)",
          "formiminoglutamic acidemia",
          "formiminotransferase deficiency",
          "formiminotransferase deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009240"
    },
    {
      "id": 11056,
      "label": "Imerslund-Grasbeck syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        4370,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007006",
          "ICD9:281.3",
          "MEDGEN:1640347",
          "MESH:C538556",
          "OMIMPS:261100",
          "Orphanet:35858",
          "SCTID:360495000",
          "UMLS:C4551825",
          "icd11.foundation:375969525"
        ],
        "synonyms": [
          "Imerslund-Grasbeck syndrome",
          "Imerslund-Gräsbeck syndrome",
          "familial megaloblastic anaemia",
          "familial megaloblastic anemia",
          "juvenile megaloblastic Anaemia",
          "juvenile megaloblastic Anemia",
          "selective cobalamin malabsorption with proteinuria",
          "Gräsbeck-Imerslund disease",
          "defect of enterocyte intrinsic factor receptor",
          "enterocyte cobalamin malabsorption"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009853"
    },
    {
      "id": 14487,
      "label": "constitutional megaloblastic anemia with severe neurologic disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3888,
        17107,
        17632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011000",
          "MEDGEN:462555",
          "MESH:C565095",
          "OMIM:613839",
          "Orphanet:319651",
          "SCTID:124178006",
          "UMLS:C3151205"
        ],
        "synonyms": [
          "DHFR deficiency",
          "dihydrofolate reductase deficiency",
          "megaloblastic anaemia due to dihydrofolate reductase deficiency",
          "megaloblastic anemia due to dihydrofolate reductase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013456"
    },
    {
      "id": 19738,
      "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        17107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019464",
          "MEDGEN:1842832",
          "Orphanet:98415",
          "UMLS:C5681710"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020112"
    }
  ],
  "roots": [
    {
      "id": 4395,
      "label": "macrocytic anemia"
    }
  ]
}