{
  "id": 17923,
  "label": "methylcobalamin deficiency type cblDv1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017683",
  "properties": {
    "xrefs": [
      "GARD:0017385",
      "MEDGEN:1826168",
      "Orphanet:308380",
      "UMLS:C5679956"
    ],
    "synonyms": [
      "functional methionine synthase deficiency type cblDv1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18886,
      "label": "homocystinuria without methylmalonic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6511,
        7611,
        17107,
        19087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016537",
          "MEDGEN:929148",
          "OMIMPS:236270",
          "Orphanet:622",
          "SCTID:721225009",
          "UMLS:C4303479",
          "icd11.foundation:726186034"
        ],
        "synonyms": [
          "functional methionine synthase deficiency",
          "homocystinuria without methylmalonic aciduria",
          "methylcobalamin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018964"
    },
    {
      "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": 18886,
      "label": "homocystinuria without methylmalonic aciduria"
    },
    {
      "id": 24189,
      "label": "methylmalonic aciduria and/or homocystinuria, cblD type"
    }
  ]
}