{
  "id": 23898,
  "label": "Imerslund-Grasbeck syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100156",
  "properties": {
    "xrefs": [
      "GARD:0026066",
      "MEDGEN:865256",
      "NCIT:C131677",
      "OMIM:261100",
      "UMLS:C4016819"
    ],
    "synonyms": [
      "Imerslund-Grasbeck syndrome 1",
      "Imerslund-Grasbeck syndrome type 1",
      "MGA-1",
      "MGA1",
      "Mga1",
      "enterocyte cobalamin malabsorption",
      "enterocyte intrinsic factor receptor, defect of",
      "megaloblastic Anaemia type 1",
      "megaloblastic Anemia type 1",
      "megaloblastic anemia, 1",
      "megaloblastic anemia, Finnish type",
      "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria"
    ],
    "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 sometimes 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. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances."
  },
  "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"
    }
  ]
}