{
  "id": 14937,
  "label": "methylmalonic acidemia with homocystinuria, type cblJ",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013925",
  "properties": {
    "xrefs": [
      "GARD:0012621",
      "MEDGEN:766829",
      "OMIM:614857",
      "Orphanet:369955",
      "UMLS:C3553915"
    ],
    "synonyms": [
      "cblJ defects",
      "cobalamin J defect",
      "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ",
      "methylmalonic aciduria with homocystinuria, type cblJ",
      "MAHCJ",
      "methylmalonic acidemia with homocystinuria type cblJ",
      "methylmalonic aciduria and homocystinuria, cblJ type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "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"
    }
  ]
}