{
  "id": 18063,
  "label": "autosomal dominant spastic ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017846",
  "properties": {
    "xrefs": [
      "GARD:0021402",
      "MEDGEN:1842682",
      "Orphanet:316235",
      "UMLS:C5679899",
      "icd11.foundation:1327229348"
    ],
    "synonyms": [
      "AD-SPAX",
      "spastic ataxia, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant form of spastic ataxia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18062,
      "label": "spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050952",
          "GARD:0021401",
          "MEDGEN:376528",
          "MESH:C564815",
          "OMIMPS:108600",
          "Orphanet:316226",
          "UMLS:C1849156"
        ],
        "synonyms": [
          "SPAX"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0017845"
    }
  ],
  "children": [
    {
      "id": 8571,
      "label": "spastic ataxia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18063
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050772",
          "GARD:0017206",
          "MEDGEN:409988",
          "MESH:C566993",
          "OMIM:108600",
          "Orphanet:251282",
          "UMLS:C1970107"
        ],
        "synonyms": [
          "SPAX1",
          "VAMP1 autosomal dominant spastic ataxia",
          "autosomal dominant spastic ataxia caused by mutation in VAMP1",
          "spastic ataxia type 1",
          "autosomal dominant spastic ataxia type 1",
          "spastic ataxia 1, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007164"
    },
    {
      "id": 8572,
      "label": "spastic ataxia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18063
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050945",
          "GARD:0016560",
          "MEDGEN:354750",
          "MESH:C566247",
          "OMIM:108650",
          "Orphanet:1182",
          "SCTID:763669001",
          "UMLS:C1862441"
        ],
        "synonyms": [
          "SPAX7",
          "autosomal dominant spastic ataxia type 7",
          "spastic ataxia type 7",
          "miosis, congenital, with spastic ataxia",
          "spastic ataxia 7, autosomal dominant",
          "spastic ataxia with congenital miosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007165"
    },
    {
      "id": 26239,
      "label": "spastic ataxia 11, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18063
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028108",
          "MEDGEN:1876498",
          "OMIM:621226",
          "UMLS:C6012733"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979230"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18062,
      "label": "spastic ataxia"
    }
  ]
}