{
  "id": 26072,
  "label": "spastic paraplegia 30B, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971149",
  "properties": {
    "xrefs": [
      "DOID:0070646",
      "GARD:0027203",
      "MEDGEN:1854426",
      "OMIM:620607",
      "UMLS:C5935571"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 13525,
      "label": "hereditary spastic paraplegia 30"
    }
  ]
}