{
  "id": 10585,
  "label": "homocystinuria due to methylene tetrahydrofolate reductase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009353",
  "properties": {
    "xrefs": [
      "GARD:0002734",
      "MEDGEN:343470",
      "MESH:C537357",
      "NANDO:1201041",
      "OMIM:236250",
      "Orphanet:395",
      "SCTID:41797007",
      "UMLS:C1856061"
    ],
    "synonyms": [
      "MTHFR deficiency",
      "homocystinuria due to methylene tetrahydrofolate reductase deficiency",
      "methylene tetrahydrofolate reductase deficiency",
      "5,10 alpha methylenetetrahydro-folate reductase deficiency",
      "5,10-alpha-methylenetetrahydro-folate reductase deficiency",
      "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency",
      "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency",
      "MTHFR deficiency, thermolabile type",
      "Methylenetetrahydro-folate reductase deficiency",
      "homocystinuria due to MTHFR deficiency",
      "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity",
      "methylenetetrahydrofolate reductase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6511,
      "label": "homocystinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9263",
          "GARD:0010770",
          "HP:0002156",
          "ICD10CM:E72.11",
          "MEDGEN:42485",
          "MESH:D006712",
          "NANDO:1201038",
          "NANDO:2200474",
          "NCIT:C84765",
          "SCTID:11282001",
          "UMLS:C0019880"
        ],
        "synonyms": [
          "homocystinuria",
          "homocystinuria (disease)",
          "CBS deficiency",
          "cystathionine beta synthase deficiency",
          "cystathionine synthase deficiency"
        ],
        "definition": "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems."
      },
      "child_count": 10,
      "reference_id": "MONDO:0004737"
    },
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17984
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021131",
          "MEDGEN:1842423",
          "Orphanet:285657",
          "UMLS:C5681010",
          "icd11.foundation:2081529009"
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0017313"
    },
    {
      "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": 6511,
      "label": "homocystinuria"
    },
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}