{
  "id": 10584,
  "label": "classic homocystinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009352",
  "properties": {
    "xrefs": [
      "GARD:0006667",
      "MEDGEN:199606",
      "MedDRA:10071093",
      "NANDO:1201039",
      "NORD:1249",
      "OMIM:236200",
      "Orphanet:394",
      "SCTID:24308003",
      "UMLS:C0751202"
    ],
    "synonyms": [
      "Homocystinuria due to Cystathionine Beta-Synthase Deficiency",
      "classic homocystinuria",
      "cystathionine beta-synthase deficiency",
      "homocystinuria due to cystathionine beta-synthase deficiency",
      "homocystinuria, B6-responsive and nonresponsive types",
      "thrombosis, hyperhomocysteinemic",
      "CBS deficiency",
      "homocystinuria due to CBS deficiency",
      "homocystinuria with or without response to pyridoxine",
      "hyperhomocysteinemia, thrombotic, CBS-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3420,
      "label": "lens disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:110",
          "EFO:0009674",
          "ICD10CM:H25-H28",
          "ICD9:379.39",
          "MEDGEN:892382",
          "MESH:D007905",
          "NCIT:C26812",
          "SCTID:10810001",
          "UMLS:C0549651"
        ],
        "synonyms": [
          "disease of lens of camera-type eye",
          "disease or disorder of lens of camera-type eye",
          "disorder of lens of camera-type eye",
          "lens disorder",
          "lens of camera-type eye disease",
          "lens of camera-type eye disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the lens of camera-type eye."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001176"
    },
    {
      "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": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3420,
      "label": "lens disorder"
    },
    {
      "id": 6511,
      "label": "homocystinuria"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    }
  ]
}