{
  "id": 11055,
  "label": "hereditary intrinsic factor deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009852",
  "properties": {
    "xrefs": [
      "DOID:0050734",
      "GARD:0003024",
      "ICD9:281.3",
      "MEDGEN:1876474",
      "MESH:C563242",
      "MedDRA:10070440",
      "OMIM:261000",
      "Orphanet:332",
      "SCTID:34925000",
      "SCTID:60504009",
      "UMLS:C2062370"
    ],
    "synonyms": [
      "intrinsic factor deficiency",
      "IFD",
      "congenital intrinsic factor deficiency",
      "congenital pernicious anaemia",
      "congenital pernicious anemia",
      "gastric intrinsic factor deficiency",
      "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency",
      "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency",
      "congenital pernicious anaemia due to defect of intrinsic factor",
      "congenital pernicious anemia due to defect of intrinsic factor",
      "intrinsic factor, congenital deficiency of",
      "pernicious Anemia, congenital, due to defect of intrinsic Factor"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": [
    {
      "id": 10697,
      "label": "intrinsic factor and r binder, combined congenital deficiency of",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11055
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015190",
          "MEDGEN:340942",
          "MESH:C565461",
          "OMIM:243320",
          "UMLS:C1855721"
        ],
        "synonyms": [
          "intrinsic factor and r binder, combined congenital deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009471"
    }
  ],
  "roots": [
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport"
    }
  ]
}