{
  "id": 11366,
  "label": "methylmalonic aciduria and homocystinuria type cblC",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010184",
  "properties": {
    "xrefs": [
      "DOID:0050715",
      "GARD:0012128",
      "MEDGEN:341256",
      "NANDO:1201040",
      "NANDO:2201107",
      "NCIT:C142174",
      "OMIM:277400",
      "Orphanet:79282",
      "SCTID:74653006",
      "UMLS:C1848561"
    ],
    "synonyms": [
      "cblC defect",
      "cobalamin C defect",
      "cobalamin c disease",
      "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC",
      "methylmalonic aciduria and homocystinuria type cblC",
      "methylmalonic aciduria with homocystinuria, type cblC",
      "MAHCC",
      "cblC",
      "cblC - cobalamin locus c",
      "cblC methylmalonic acidemia and homocystinuria",
      "cobalamin locus c variant",
      "methylmalonic acidemia and homocystinuria cblC",
      "methylmalonic acidemia and homocystinuria, cblC type",
      "methylmalonic acidemia with homocystinuria type cblC",
      "methylmalonic acidemia with homocystinuria, type cblC",
      "methylmalonic aciduria and homocystinuria cblC",
      "methylmalonic aciduria and homocystinuria, cblC type",
      "methylmalonic aciduria and homocystinuria, cblC type, digenic",
      "methylmalonic aciduria and homocystinuria, vitamin B12-responsive",
      "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "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. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) 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"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}