{
  "id": 24451,
  "label": "KIF1A related neurological disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700055",
  "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"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 14659,
      "label": "neuropathy, hereditary sensory, type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19659,
        24451
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070147",
          "GARD:0015774",
          "MEDGEN:481798",
          "OMIM:614213",
          "UMLS:C3280168"
        ],
        "synonyms": [
          "HSN2C",
          "KIF1A hereditary sensory and autonomic neuropathy type 2",
          "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A",
          "hereditary sensory neuropathy type 2C",
          "neuropathy, hereditary sensory, type IIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013634"
    },
    {
      "id": 14680,
      "label": "intellectual disability, autosomal dominant 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        24451
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070039",
          "GARD:0016459",
          "MEDGEN:1714250",
          "NCIT:C133742",
          "OMIM:614255",
          "Orphanet:662367",
          "UMLS:C5393830"
        ],
        "synonyms": [
          "KIF1A autosomal dominant non-syndromic intellectual disability",
          "MRD9",
          "NESCAV syndrome",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A",
          "intellectual disability, autosomal dominant 9",
          "intellectual disability, autosomal dominant type 9",
          "mental retardation, autosomal dominant type 9",
          "autosomal dominant non-syndromic intellectual disability 9",
          "mental retardation, autosomal dominant 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013656"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}