{
  "id": 11056,
  "label": "Imerslund-Grasbeck syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009853",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3888,
      "label": "megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13382",
          "HP:0001889",
          "ICD9:281.3",
          "MEDGEN:1527",
          "NANDO:2100176",
          "NANDO:2200612",
          "NCIT:C34382",
          "SCTID:53165003",
          "UMLS:C0002888"
        ],
        "synonyms": [
          "megaloblastic anaemia (disease)",
          "megaloblastic anemia",
          "megaloblastic anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs."
      },
      "child_count": 6,
      "reference_id": "MONDO:0001700"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 23898,
      "label": "Imerslund-Grasbeck syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        11056
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100156"
    },
    {
      "id": 23899,
      "label": "Imerslund-Grasbeck syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        11056
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100157"
    }
  ],
  "roots": [
    {
      "id": 3888,
      "label": "megaloblastic anemia"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    },
    {
      "id": 19087,
      "label": "inborn disorder of cobalamin metabolism and transport"
    }
  ]
}