{
  "id": 24697,
  "label": "spastic paraplegia 30A, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700307",
  "properties": {
    "xrefs": [
      "DOID:0070647",
      "GARD:0028011",
      "OMIM:610357"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 13525,
      "label": "hereditary spastic paraplegia 30",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18959,
        24451
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110781",
          "GARD:0016942",
          "MEDGEN:1710020",
          "MESH:C563677",
          "Orphanet:101010",
          "SCTID:763377006",
          "UMLS:C5235139"
        ],
        "synonyms": [
          "KIF1A hereditary spastic paraplegia",
          "SPG30",
          "autosomal spastic paraplegia type 30",
          "hereditary spastic paraplegia caused by mutation in KIF1A",
          "hereditary spastic paraplegia type 30",
          "spastic paraplegia 30, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0012476"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 13525,
      "label": "hereditary spastic paraplegia 30"
    }
  ]
}