{
  "id": 11331,
  "label": "transcobalamin II deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010149",
  "properties": {
    "xrefs": [
      "DOID:0050818",
      "GARD:0012338",
      "ICD10CM:D51.2",
      "MEDGEN:137976",
      "NCIT:C142806",
      "OMIM:275350",
      "Orphanet:859",
      "SCTID:237934001",
      "UMLS:C0342701"
    ],
    "synonyms": [
      "TCN2 deficiency",
      "inherited deficiency of transcobalamin",
      "transcobalamin II deficiency",
      "TC 2 deficiency",
      "Tcn2 deficiency",
      "transcobalamin 2 deficiency",
      "transcobalamin deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    },
    {
      "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": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7182,
        17984,
        20104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050731",
          "GARD:0018951",
          "MEDGEN:1826150",
          "Orphanet:79171",
          "UMLS:C5681844",
          "icd11.foundation:936546617"
        ],
        "synonyms": [
          "cobalamin deficiency",
          "hypocobalaminemia",
          "inborn disorder of cobalamin metabolism and transport",
          "inborn error of cobalamin metabolic process",
          "inborn vitamin B12 deficiency (disease)",
          "rare inborn error of cobalamin metabolic process",
          "disorder of cobalamin metabolism and transport"
        ],
        "definition": "An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019220"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport"
    }
  ]
}