{
  "id": 10113,
  "label": "atransferrinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008846",
  "properties": {
    "xrefs": [
      "DOID:0050649",
      "GARD:0009595",
      "MEDGEN:105489",
      "MESH:C538259",
      "NANDO:2100180",
      "NANDO:2200617",
      "NCIT:C125693",
      "NORD:819",
      "OMIM:209300",
      "Orphanet:1195",
      "SCTID:111571009",
      "UMLS:C0521802"
    ],
    "synonyms": [
      "atransferrinemia",
      "congenital atransferrinemia",
      "congenital hypotransferrinemia",
      "familial hypotransferrinemia",
      "hereditary atransferrinemia",
      "hypotransferrinemia, familial",
      "transferrin serum level quantitative trait locus 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "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": 17988,
      "label": "disorder of iron metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021355",
          "MEDGEN:1826109",
          "Orphanet:309842",
          "UMLS:C5681031"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017763"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 17988,
      "label": "disorder of iron metabolism and transport"
    }
  ]
}