{
  "id": 23899,
  "label": "Imerslund-Grasbeck syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100157",
  "properties": {
    "xrefs": [
      "GARD:0026067",
      "MEDGEN:865385",
      "OMIM:618882",
      "UMLS:C4016948"
    ],
    "synonyms": [
      "Imerslund-Grasbeck syndrome 2",
      "megaloblastic anemia, Norwegian type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 11056,
      "label": "Imerslund-Grasbeck syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        4370,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007006",
          "ICD9:281.3",
          "MEDGEN:1640347",
          "MESH:C538556",
          "OMIMPS:261100",
          "Orphanet:35858",
          "SCTID:360495000",
          "UMLS:C4551825",
          "icd11.foundation:375969525"
        ],
        "synonyms": [
          "Imerslund-Grasbeck syndrome",
          "Imerslund-Gräsbeck syndrome",
          "familial megaloblastic anaemia",
          "familial megaloblastic anemia",
          "juvenile megaloblastic Anaemia",
          "juvenile megaloblastic Anemia",
          "selective cobalamin malabsorption with proteinuria",
          "Gräsbeck-Imerslund disease",
          "defect of enterocyte intrinsic factor receptor",
          "enterocyte cobalamin malabsorption"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009853"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 11056,
      "label": "Imerslund-Grasbeck syndrome"
    }
  ]
}