{
  "id": 23114,
  "label": "neuroaxonal dystrophy renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043075",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4081,
      "label": "renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7610,
        8001,
        20667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14219",
          "GARD:0007552",
          "ICD9:588.89",
          "MEDGEN:90",
          "MESH:D000141",
          "NANDO:2100019",
          "NANDO:2200144",
          "SCTID:1776003",
          "UMLS:C0001126",
          "icd11.foundation:1272869150"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets."
      },
      "child_count": 15,
      "reference_id": "MONDO:0001909"
    },
    {
      "id": 4397,
      "label": "neuroaxonal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "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)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0002283"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4081,
      "label": "renal tubular acidosis"
    },
    {
      "id": 4397,
      "label": "neuroaxonal dystrophy"
    }
  ]
}