{
  "id": 19937,
  "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020480",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "id": 19194,
      "label": "encephalopathy due to sulfite oxidase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3420,
        16198,
        19088
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019358"
    }
  ],
  "children": [
    {
      "id": 10859,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111164",
          "GARD:0017386",
          "MEDGEN:381530",
          "MESH:C565372",
          "OMIM:252150",
          "Orphanet:308386",
          "PMID:9731530",
          "UMLS:C1854988"
        ],
        "synonyms": [
          "MOCOD type A",
          "MOCODA",
          "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A",
          "molybdenum cofactor deficiency A",
          "molybdenum cofactor deficiency, complementation group type a",
          "molybdenum cofactor deficiency type A",
          "molybdenum cofactor deficiency, complementation group A",
          "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009643"
    },
    {
      "id": 10860,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111163",
          "GARD:0017387",
          "MEDGEN:340760",
          "MESH:C565373",
          "OMIM:252160",
          "Orphanet:308393",
          "PMID:10053004",
          "UMLS:C1854989"
        ],
        "synonyms": [
          "MOCOD type B",
          "MOCODB",
          "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B",
          "molybdenum cofactor deficiency B",
          "molybdenum cofactor deficiency, complementation group type B",
          "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B",
          "molybdenum cofactor deficiency type B",
          "molybdenum cofactor deficiency, complementation group B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009644"
    },
    {
      "id": 15218,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19937
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014212"
    },
    {
      "id": 26341,
      "label": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621373"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980701"
    }
  ],
  "roots": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 19194,
      "label": "encephalopathy due to sulfite oxidase deficiency"
    }
  ]
}