{
  "id": 4397,
  "label": "neuroaxonal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002283",
  "properties": {
    "xrefs": [
      "DOID:2367",
      "MEDGEN:90924",
      "MESH:D019150",
      "NCIT:C161542",
      "SCTID:230365004",
      "UMLS:C0338473"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7208,
      "label": "neurodegenerative disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1289",
          "EFO:0005772",
          "ICD9:349.89",
          "MEDGEN:17999",
          "MESH:D019636",
          "NCIT:C4802",
          "SCTID:80690008",
          "UMLS:C0027746"
        ],
        "synonyms": [
          "degenerative disease",
          "brain degeneration",
          "central nervous system degenerative disorder",
          "central nervous system neurodegenerative disorder",
          "degenerative disorder of central nervous system",
          "cerebral degeneration disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."
      },
      "child_count": 22,
      "reference_id": "MONDO:0005559"
    }
  ],
  "children": [
    {
      "id": 18404,
      "label": "neurodegeneration with brain iron accumulation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4393,
        4397,
        7073,
        16360,
        18954,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110734",
          "GARD:0011899",
          "MEDGEN:444156",
          "MESH:C538421",
          "NANDO:2100241",
          "OMIMPS:234200",
          "Orphanet:385",
          "UMLS:C2931845",
          "icd11.foundation:440483530"
        ],
        "synonyms": [
          "NBIA",
          "neurodegeneration with brain iron accumulation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."
      },
      "child_count": 84,
      "reference_id": "MONDO:0018307"
    },
    {
      "id": 23114,
      "label": "neuroaxonal dystrophy renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081,
        4397
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000349",
          "MEDGEN:419816",
          "MESH:C537386",
          "UMLS:C2931479"
        ],
        "synonyms": [
          "CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr",
          "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr",
          "Maccario Mena weir syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043075"
    }
  ],
  "roots": [
    {
      "id": 7208,
      "label": "neurodegenerative disease"
    }
  ]
}