{
  "id": 11803,
  "label": "methylmalonic acidemia with homocystinuria, type cblX",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010657",
  "properties": {
    "xrefs": [
      "DOID:0111814",
      "GARD:0013137",
      "MEDGEN:167111",
      "MESH:C563136",
      "OMIM:309541",
      "Orphanet:369962",
      "UMLS:C0796208"
    ],
    "synonyms": [
      "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX",
      "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive",
      "methylmalonic aciduria with homocystinuria, type cblX",
      "intellectual disability, X-linked 3",
      "mental retardation, X-linked 3",
      "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type",
      "methylmalonic acidemia and homocysteinemia type cblX"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "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"
    },
    {
      "id": 19054,
      "label": "non-syndromic X-linked intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050776",
          "GARD:0018640",
          "MEDGEN:502019",
          "MESH:C564490",
          "OMIMPS:309530",
          "Orphanet:777",
          "UMLS:C3501611"
        ],
        "synonyms": [
          "X-linked non-specific intellectual disability",
          "X-linked non-syndromic intellectual disability",
          "intellectual disability, X-linked, nonsyndromic",
          "intellectual disability, nonsyndromic, X-linked",
          "mental retardation, X-linked, nonsyndromic",
          "mental retardation, nonsyndromic, X-linked",
          "non-specific X-linked intellectual disability",
          "non-syndromic X-linked intellectual disability",
          "non-syndromic intellectual disability, X-linked",
          "nonsyndromic X-linked intellectual disability",
          "isolated X-linked intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX."
      },
      "child_count": 104,
      "reference_id": "MONDO:0019181"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria"
    },
    {
      "id": 19054,
      "label": "non-syndromic X-linked intellectual disability"
    }
  ]
}