{
  "id": 11365,
  "label": "methylmalonic aciduria and homocystinuria type cblF",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010183",
  "properties": {
    "xrefs": [
      "DOID:0050717",
      "GARD:0003584",
      "MEDGEN:336373",
      "MESH:C564747",
      "NANDO:2201110",
      "OMIM:277380",
      "Orphanet:79284",
      "SCTID:80887004",
      "UMLS:C1848578"
    ],
    "synonyms": [
      "cblF defect",
      "cobalamin F defect",
      "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF",
      "inherited methylmalonic acidemia and homocystinuria",
      "lysosomal membrane cobalamin transporter deficiency",
      "methylmalonic aciduria and homocystinuria type cblF",
      "methylmalonic aciduria with homocystinuria, type cblF",
      "MAHCF",
      "cblF methylmalonic acidemia and homocystinuria",
      "cobalamin F disease",
      "cobalamin locus f variant",
      "cobalamin, defect in lysosomal release of",
      "methylmalonic acidemia and homocystinuria, cblF type",
      "methylmalonic acidemia with homocystinuria type cblF",
      "methylmalonic aciduria and homocystinuria, cblF type",
      "methylmalonic aciduria due to vitamin B12-release defect",
      "vitamin B12 lysosomal release defect",
      "vitamin B12 storage disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4166,
        6511,
        17107,
        19083,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003579",
          "MEDGEN:1864102",
          "MESH:C537359",
          "OMIMPS:277400",
          "Orphanet:26",
          "UMLS:C5848324"
        ],
        "synonyms": [
          "combined defect in adenosylcobalamin and methylcobalamin synthesis",
          "methylmalonic aciduria with homocystinuria",
          "methylmalonic acidemia and homocystinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016826"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria"
    }
  ]
}