{
  "id": 10481,
  "label": "hereditary folate malabsorption",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009238",
  "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."
  },
  "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"
    },
    {
      "id": 20033,
      "label": "malabsorption syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009554",
          "MEDGEN:44256",
          "MESH:D008286",
          "NCIT:C3214",
          "SCTID:32230006",
          "UMLS:C0024523"
        ],
        "synonyms": [
          "malabsorption",
          "malabsorption syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020598"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3888,
      "label": "megaloblastic anemia"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport"
    },
    {
      "id": 20033,
      "label": "malabsorption syndrome"
    }
  ]
}