{
  "id": 10483,
  "label": "formiminoglutamic aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009240",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3888,
      "label": "megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4395
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0001700"
    },
    {
      "id": 17107,
      "label": "hereditary anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3835,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020669",
          "MEDGEN:1842172",
          "Orphanet:248296",
          "UMLS:C5680695"
        ],
        "synonyms": [
          "constitutional deficiency anemia",
          "constitutional rare deficiency anaemia",
          "constitutional rare deficiency anemia",
          "inherited deficiency anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0016624"
    },
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17984
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021131",
          "MEDGEN:1842423",
          "Orphanet:285657",
          "UMLS:C5681010",
          "icd11.foundation:2081529009"
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0017313"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3888,
      "label": "megaloblastic anemia"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport"
    }
  ]
}