{
  "id": 13525,
  "label": "hereditary spastic paraplegia 30",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012476",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "PMID:37259299"
        ],
        "synonyms": [
          "KAND",
          "KIF1A neurological disorder",
          "neurological disorder caused by mutation in KIF1A",
          "neurological disorder caused by variation in KIF1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A"
      },
      "child_count": 3,
      "reference_id": "MONDO:0700055"
    }
  ],
  "children": [
    {
      "id": 24697,
      "label": "spastic paraplegia 30A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        13525
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070647",
          "GARD:0028011",
          "OMIM:610357"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700307"
    },
    {
      "id": 26072,
      "label": "spastic paraplegia 30B, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        13525
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070646",
          "GARD:0027203",
          "MEDGEN:1854426",
          "OMIM:620607",
          "UMLS:C5935571"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971149"
    }
  ],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder"
    }
  ]
}