{
  "id": 10586,
  "label": "methylcobalamin deficiency type cblE",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009354",
  "properties": {
    "xrefs": [
      "DOID:0050732",
      "DOID:0112255",
      "GARD:0003576",
      "MEDGEN:344640",
      "MESH:C565510",
      "NANDO:2201109",
      "NCIT:C142173",
      "OMIM:236270",
      "Orphanet:2169",
      "UMLS:C1856057"
    ],
    "synonyms": [
      "functional methionine synthase deficiency type cblE",
      "homocystinuria-megaloblastic anemia, cbl e type",
      "methylcobalamin deficiency type cblE",
      "HMAE",
      "homocystinuria due to defect in methylation Cbl e",
      "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type",
      "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type",
      "homocystinuria-megaloblastic anemia, cblE complementation type",
      "methylcobalamin deficiency, cblE type",
      "methylmalonic aciduria and homocystinuria type cblE",
      "vitamin B12-responsive homocystinuria, cblE type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18886,
      "label": "homocystinuria without methylmalonic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6511,
        7611,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016537",
          "MEDGEN:929148",
          "OMIMPS:236270",
          "Orphanet:622",
          "SCTID:721225009",
          "UMLS:C4303479",
          "icd11.foundation:726186034"
        ],
        "synonyms": [
          "functional methionine synthase deficiency",
          "homocystinuria without methylmalonic aciduria",
          "methylcobalamin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018964"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18886,
      "label": "homocystinuria without methylmalonic aciduria"
    }
  ]
}