{
  "id": 24348,
  "label": "KIF5A-related neurological disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100629",
  "properties": {
    "synonyms": [
      "KIF5A-RD",
      "KIF5A-related disorder",
      "kinesin family member 5A (KIF5A)-related disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12513,
      "label": "hereditary spastic paraplegia 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        24348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110763",
          "GARD:0009590",
          "MEDGEN:349003",
          "MESH:C537482",
          "OMIM:604187",
          "Orphanet:100991",
          "SCTID:732948003",
          "UMLS:C1858712"
        ],
        "synonyms": [
          "KIF5A hereditary spastic paraplegia",
          "SPG10",
          "autosomal dominant spastic paraplegia type 10",
          "hereditary spastic paraplegia caused by mutation in KIF5A",
          "hereditary spastic paraplegia type 10",
          "autosomal dominant spastic paraplegia",
          "spastic paraplegia 10",
          "spastic paraplegia 10 with or without peripheral neuropathy",
          "spastic paraplegia 10, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011408"
    },
    {
      "id": 15956,
      "label": "myoclonus, intractable, neonatal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:934625",
          "OMIM:617235",
          "UMLS:C4310658"
        ],
        "synonyms": [
          "NEIMY",
          "myoclonus, intractable, neonatal",
          "myoclonus, intractable, neonatal; NEIMY"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014979"
    },
    {
      "id": 18139,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909,
        24348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021447",
          "MEDGEN:1633598",
          "Orphanet:324611",
          "SCTID:764730007",
          "UMLS:C4707173"
        ],
        "synonyms": [
          "CMT2 due to KIF5A mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017940"
    }
  ],
  "roots": [
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}