{
  "id": 19194,
  "label": "encephalopathy due to sulfite oxidase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019358",
  "properties": {
    "xrefs": [
      "GARD:0016549",
      "MEDGEN:894927",
      "Orphanet:833",
      "SCTID:715980003",
      "UMLS:C4275019",
      "icd11.foundation:681037681"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 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"
    },
    {
      "id": 19088,
      "label": "inborn disorder of methionine cycle and sulfur amino acid metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059,
        23517,
        23664
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018953",
          "ICD9:270.4",
          "MEDGEN:1842381",
          "Orphanet:79173",
          "SCTID:28882002",
          "UMLS:C5680126",
          "icd11.foundation:67872354"
        ],
        "synonyms": [
          "cytosolic methyl group transfer or sulfur amino acid metabolism disorder",
          "cytosolic methyl group transfer or sulphur amino acid metabolism disorder",
          "inborn error of sulfur amino acid metabolic process",
          "inborn error of sulphur amino acid metabolic process",
          "inborn sulfur amino acid metabolic process disorder",
          "inborn sulphur amino acid metabolic process disorder",
          "rare inborn error of sulfur amino acid metabolic process",
          "rare inborn error of sulphur amino acid metabolic process",
          "disorder of methionine cycle and sulfur amino acid metabolism",
          "disorder of methionine cycle and sulphur amino acid metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019222"
    }
  ],
  "children": [
    {
      "id": 11276,
      "label": "isolated sulfite oxidase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19194
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111270",
          "GARD:0005062",
          "MEDGEN:78695",
          "MESH:C538141",
          "NANDO:2200583",
          "OMIM:272300",
          "Orphanet:99731",
          "SCTID:367368009",
          "UMLS:C0268624",
          "icd11.foundation:963607692"
        ],
        "synonyms": [
          "ISOD",
          "Sulfocysteinuria",
          "isolated sulfite oxidase deficiency",
          "sulfite oxidase deficiency",
          "sulfite oxidase deficiency, isolated",
          "sulfocysteinuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010089"
    },
    {
      "id": 19937,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6470,
        19194
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111165",
          "GARD:0003705",
          "MEDGEN:75652",
          "OMIMPS:252150",
          "Orphanet:99732",
          "UMLS:C0268119",
          "icd11.foundation:819219337"
        ],
        "synonyms": [
          "MOCOD",
          "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase",
          "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase",
          "molybdenum cofactor deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0020480"
    }
  ],
  "roots": [
    {
      "id": 3420,
      "label": "lens disorder"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19088,
      "label": "inborn disorder of methionine cycle and sulfur amino acid metabolism"
    }
  ]
}