{
  "id": 15218,
  "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014212",
  "properties": {
    "xrefs": [
      "DOID:0111166",
      "GARD:0017388",
      "MEDGEN:340761",
      "MESH:C565374",
      "OMIM:615501",
      "Orphanet:308400",
      "PMID:11095995",
      "UMLS:C1854990"
    ],
    "synonyms": [
      "MOCOD type C",
      "MOCODC",
      "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C",
      "molybdenum cofactor deficiency C",
      "molybdenum cofactor deficiency, complementation group type C",
      "molybdenum cofactor deficiency type C",
      "molybdenum cofactor deficiency, complementation group C"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19937,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency"
    }
  ]
}