{
  "id": 15608,
  "label": "multiple mitochondrial dysfunctions syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014611",
  "properties": {
    "xrefs": [
      "DOID:0080136",
      "GARD:0017809",
      "MEDGEN:899010",
      "OMIM:616370",
      "Orphanet:457406",
      "UMLS:C4225348"
    ],
    "synonyms": [
      "ISCA2 fatal multiple mitochondrial dysfunctions syndrome",
      "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2",
      "multiple mitochondrial dysfunctions syndrome 4",
      "multiple mitochondrial dysfunctions syndrome type 4",
      "MMDS4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6639,
      "label": "eye degenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9799",
          "ICD10CM:H44.5",
          "ICD9:360.2",
          "ICD9:360.20",
          "ICD9:360.29",
          "ICD9:360.4",
          "ICD9:360.40",
          "MEDGEN:509655",
          "SCTID:62585004",
          "UMLS:C0154777"
        ],
        "synonyms": [
          "degenerative disorder of eye",
          "eye neurodegenerative disease",
          "eyeball of camera-type eye neurodegenerative disease",
          "neurodegenerative disease of eyeball of camera-type eye",
          "degenerative disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eye."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004884"
    },
    {
      "id": 17655,
      "label": "fatal multiple mitochondrial dysfunctions syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070330",
          "GARD:0012632",
          "MEDGEN:502474",
          "MESH:C565304",
          "OMIMPS:605711",
          "Orphanet:289573",
          "SCTID:720827002",
          "UMLS:C3502075"
        ],
        "synonyms": [
          "multiple mitochondrial dysfunctions syndrome",
          "MMDS",
          "fatal multiple mitochondrial dysfunction syndrome"
        ],
        "definition": "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual."
      },
      "child_count": 9,
      "reference_id": "MONDO:0017338"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6639,
      "label": "eye degenerative disorder"
    },
    {
      "id": 17655,
      "label": "fatal multiple mitochondrial dysfunctions syndrome"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}