{
  "id": 11367,
  "label": "methylmalonic aciduria and homocystinuria type cblD",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010185",
  "properties": {
    "xrefs": [
      "DOID:0050716",
      "GARD:0003582",
      "MEDGEN:341253",
      "MESH:C564743",
      "NANDO:1200797",
      "NANDO:2201108",
      "OMIM:277410",
      "Orphanet:79283",
      "SCTID:31220004",
      "UMLS:C1848552"
    ],
    "synonyms": [
      "cblD defect",
      "cobalamin D defect",
      "cobalamin d disease",
      "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD",
      "methylmalonic aciduria and homocystinuria type cblD",
      "methylmalonic aciduria with homocystinuria, type cblD",
      "MAHCD",
      "cblD - cobalamin locus d",
      "cblD methylmalonic acidemia and homocystinuria",
      "homocystinuria, cblD type, variant 1",
      "homocystinuria, cblD type, variant 1, included",
      "m0e.321 cobalamin locus d variant",
      "mehtylmalonic acidemia with homocystinuria cbI d",
      "methylmalonic acidemia and homocystinuria, cblD type",
      "methylmalonic acidemia with homocystinuria type cblD",
      "methylmalonic acidemia with homocystinuria, type cblD",
      "methylmalonic acidemia, Cblh type",
      "methylmalonic acidemia, Cblh type, formerly",
      "methylmalonic aciduria and homocystinuria, cblD type",
      "methylmalonic aciduria, Cblh type",
      "methylmalonic aciduria, Cblh type, formerly",
      "methylmalonic aciduria, cblD type, variant 2",
      "methylmalonic aciduria, cblD type, variant 2, included"
    ],
    "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 variable biochemical, neurological and hematological manifestations."
  },
  "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": 24189,
      "label": "methylmalonic aciduria and/or homocystinuria, cblD type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026230"
        ],
        "definition": "An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100463"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17252,
      "label": "methylmalonic aciduria and homocystinuria"
    },
    {
      "id": 24189,
      "label": "methylmalonic aciduria and/or homocystinuria, cblD type"
    }
  ]
}