{
  "id": 18959,
  "label": "hereditary spastic paraplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019064",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 45,
  "parents": [
    {
      "id": 5637,
      "label": "paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:607",
          "EFO:0009679",
          "ICD10CM:G82.2",
          "ICD9:344.1",
          "MEDGEN:45323",
          "MESH:D010264",
          "NCIT:C50687",
          "SCTID:60389000",
          "UMLS:C0030486",
          "icd11.foundation:1212533558"
        ],
        "synonyms": [
          "severe or complete loss of motor function in the lower extremities and lower portions of the trunk"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003757"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "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 that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [
    {
      "id": 9730,
      "label": "hereditary spastic paraplegia 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110791",
          "GARD:0005041",
          "MEDGEN:419393",
          "MESH:C536864",
          "NCIT:C142893",
          "OMIM:182600",
          "Orphanet:100984",
          "UMLS:C2931355"
        ],
        "synonyms": [
          "ATL1 hereditary spastic paraplegia",
          "FSP1",
          "SPG3A",
          "Strümpell disease",
          "autosomal dominant spastic paraplegia type 3",
          "hereditary spastic paraplegia caused by mutation in ATL1",
          "hereditary spastic paraplegia type 3A",
          "spastic Paraplegia 3A",
          "spastic paraplegia 3a, autosomal dominant",
          "strumpell disease",
          "Spg3",
          "Strumpell disease",
          "familial spastic paraplegia, autosomal dominant, 1",
          "spastic paraplegia 3",
          "spastic paraplegia 3, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008437"
    },
    {
      "id": 9731,
      "label": "hereditary spastic paraplegia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        24248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110792",
          "GARD:0004925",
          "MEDGEN:401097",
          "MESH:C536865",
          "NCIT:C129981",
          "OMIM:182601",
          "Orphanet:100985",
          "SCTID:723820001",
          "UMLS:C1866855"
        ],
        "synonyms": [
          "SPAST hereditary spastic paraplegia",
          "SPG4",
          "autosomal dominant spastic paraplegia type 4",
          "hereditary spastic paraplegia 4",
          "hereditary spastic paraplegia caused by mutation in SPAST",
          "hereditary spastic paraplegia type 4",
          "FSP2",
          "familial spastic paraplegia autosomal dominant 2",
          "familial spastic paraplegia, autosomal dominant, 2",
          "spastic paraplegia 4",
          "spastic paraplegia 4, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008438"
    },
    {
      "id": 10789,
      "label": "mast syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060245",
          "GARD:0016939",
          "MEDGEN:343325",
          "MESH:C565409",
          "OMIM:248900",
          "Orphanet:101001",
          "SCTID:764734003",
          "UMLS:C1855346"
        ],
        "synonyms": [
          "Mast syndrome",
          "SPG21",
          "autosomal recessive spastic paraplegia type 21",
          "mast syndrome",
          "spastic paraplegia 21, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009568"
    },
    {
      "id": 11239,
      "label": "hereditary spastic paraplegia 5A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        29294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110810",
          "GARD:0004926",
          "MEDGEN:376521",
          "OMIM:270800",
          "Orphanet:100986",
          "SCTID:763373005",
          "UMLS:C1849115"
        ],
        "synonyms": [
          "CYP7B1 pure or complex autosomal recessive spastic paraplegia",
          "SPG5A",
          "autosomal recessive spastic paraplegia type 5A",
          "hereditary spastic paraplegia type 5A",
          "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1",
          "spastic paraplegia type 5B, recessive",
          "autosomal recessive spastic paraplegia",
          "spastic paraplegia 5A",
          "spastic paraplegia 5A, autosomal recessive",
          "spastic paraplegia type 5A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010047"
    },
    {
      "id": 11460,
      "label": "hereditary spastic paraplegia 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110769",
          "GARD:0009585",
          "MEDGEN:375796",
          "MESH:C536643",
          "OMIM:300266",
          "Orphanet:100997",
          "UMLS:C1846046"
        ],
        "synonyms": [
          "SPG16",
          "X-linked spastic paraplegia type 16",
          "hereditary spastic paraplegia type 16",
          "spastic paraplegia 16, X-linked, complicated, X-linked recessive",
          "spastic paraplegia 16",
          "spastic paraplegia 16, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010287"
    },
    {
      "id": 11873,
      "label": "hereditary spastic paraplegia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18952,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110773",
          "GARD:0004923",
          "MEDGEN:199692",
          "OMIM:312920",
          "Orphanet:99015",
          "SCTID:723622007",
          "UMLS:C0751604"
        ],
        "synonyms": [
          "PLP1 hereditary spastic paraplegia",
          "SPG2",
          "X-linked spastic paraplegia type 2",
          "hereditary spastic paraplegia caused by mutation in PLP1",
          "hereditary spastic paraplegia type 2",
          "spastic gait type 2",
          "spastic paraparesis type 2",
          "spastic paraplegia 2, X-linked, X-linked recessive",
          "spastic paraplegia type 2",
          "Sppx2",
          "spastic paraplegia 2",
          "spastic paraplegia 2, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010733"
    },
    {
      "id": 11993,
      "label": "macrocephaly-spastic paraplegia-dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016598",
          "MEDGEN:373933",
          "MESH:C563963",
          "OMIM:600302",
          "Orphanet:2429",
          "SCTID:716108004",
          "UMLS:C1838281"
        ],
        "synonyms": [
          "Fryns macrocephaly",
          "macrocephaly with spastic paraplegia and distinctive craniofacial appearance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010858"
    },
    {
      "id": 12011,
      "label": "Charcot-Marie-Tooth disease type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4423,
        18959,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080067",
          "GARD:0009208",
          "MEDGEN:1648461",
          "OMIM:600361",
          "Orphanet:64751",
          "SCTID:76043009",
          "UMLS:C4721916"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease-pyramidal features syndrome",
          "HMSN 5",
          "hereditary motor and sensory neuropathy type 5",
          "CMT with pyramidal features",
          "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant",
          "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant",
          "HMSN5",
          "hereditary motor and sensory neuropathy 5",
          "hereditary motor and sensory neuropathy V",
          "peroneal muscular atrophy with pyramidal features, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010877"
    },
    {
      "id": 12012,
      "label": "hereditary spastic paraplegia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110811",
          "GARD:0004928",
          "MEDGEN:324965",
          "MESH:C536866",
          "OMIM:600363",
          "Orphanet:100988",
          "SCTID:732949006",
          "UMLS:C1838192"
        ],
        "synonyms": [
          "FSP3",
          "NIPA1 hereditary spastic paraplegia",
          "SPG6",
          "autosomal dominant spastic paraplegia type 6",
          "hereditary spastic paraplegia caused by mutation in NIPA1",
          "hereditary spastic paraplegia type 6",
          "familial spastic paraplegia autosomal dominant 3",
          "familial spastic paraplegia, autosomal dominant, 3",
          "spastic paraplegia 6",
          "spastic paraplegia 6, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010878"
    },
    {
      "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": 12621,
      "label": "hereditary spastic paraplegia 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110767",
          "GARD:0009589",
          "MEDGEN:343157",
          "MESH:C537486",
          "OMIM:605229",
          "Orphanet:100995",
          "UMLS:C1854568"
        ],
        "synonyms": [
          "SPG14",
          "autosomal recessive spastic paraplegia type 14",
          "hereditary spastic paraplegia type 14",
          "spastic paraplegia 14",
          "spastic paraplegia 14, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011522"
    },
    {
      "id": 12630,
      "label": "hereditary spastic paraplegia 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110766",
          "GARD:0009616",
          "MEDGEN:344289",
          "MESH:C537485",
          "OMIM:605280",
          "Orphanet:100994",
          "UMLS:C1854467"
        ],
        "synonyms": [
          "HSPD1 hereditary spastic paraplegia",
          "SPG13",
          "hereditary spastic paraplegia caused by mutation in HSPD1",
          "hereditary spastic paraplegia type 13",
          "autosomal dominant spastic paraplegia type 13",
          "spastic paraplegia 13",
          "spastic paraplegia 13, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011532"
    },
    {
      "id": 12885,
      "label": "hereditary spastic paraplegia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18959,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110816",
          "GARD:0004927",
          "MEDGEN:339552",
          "MESH:C564599",
          "OMIM:607259",
          "Orphanet:99013",
          "SCTID:715776003",
          "UMLS:C1846564"
        ],
        "synonyms": [
          "SPG7",
          "SPG7 hereditary spastic paraplegia",
          "hereditary spastic paraplegia 7",
          "hereditary spastic paraplegia caused by mutation in SPG7",
          "hereditary spastic paraplegia type 7",
          "spastic paraplegia type 7",
          "hereditary spastic paraplegia paraplegin type",
          "spastic paraplegia 7",
          "spastic paraplegia 7, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011803"
    },
    {
      "id": 13498,
      "label": "hereditary spastic paraplegia 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110784",
          "GARD:0024867",
          "MEDGEN:339943",
          "MESH:C565214",
          "OMIM:610244",
          "UMLS:C1853251"
        ],
        "synonyms": [
          "SPG33",
          "ZFYVE27 hereditary spastic paraplegia",
          "hereditary spastic paraplegia caused by mutation in ZFYVE27",
          "hereditary spastic paraplegia type 33",
          "spastic paraplegia 33, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012448"
    },
    {
      "id": 13503,
      "label": "hereditary spastic paraplegia 31",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110782",
          "GARD:0010817",
          "MEDGEN:377858",
          "MESH:C565210",
          "OMIM:610250",
          "Orphanet:101011",
          "SCTID:763068005",
          "UMLS:C1853247"
        ],
        "synonyms": [
          "REEP1 hereditary spastic paraplegia",
          "SPG31",
          "autosomal dominant spastic paraplegia type 31",
          "hereditary spastic paraplegia caused by mutation in REEP1",
          "hereditary spastic paraplegia type 31",
          "spastic paraplegia 31",
          "spastic paraplegia 31, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012453"
    },
    {
      "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": 13906,
      "label": "hereditary spastic paraplegia 35",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110786",
          "GARD:0010538",
          "MEDGEN:501249",
          "MESH:C567311",
          "NANDO:1200541",
          "OMIM:612319",
          "Orphanet:171629",
          "SCTID:764688002",
          "UMLS:C3496228"
        ],
        "synonyms": [
          "FA2H hereditary spastic paraplegia",
          "SPG35",
          "autosomal recessive spastic paraplegia type 35",
          "hereditary spastic paraplegia 35",
          "hereditary spastic paraplegia caused by mutation in FA2H",
          "hereditary spastic paraplegia type 35",
          "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia",
          "spastic paraplegia 35, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012866"
    },
    {
      "id": 14086,
      "label": "hereditary spastic paraplegia 50",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        23918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110802",
          "GARD:0015592",
          "MEDGEN:442869",
          "MESH:C567858",
          "NORD:1989",
          "OMIM:612936",
          "UMLS:C2752008"
        ],
        "synonyms": [
          "AP4M1 hereditary spastic paraplegia",
          "SPG50",
          "Spastic Paraplegia 50",
          "hereditary spastic paraplegia caused by mutation in AP4M1",
          "hereditary spastic paraplegia type 50",
          "cerebral palsy, spastic quadriplegic, 3",
          "cerebral palsy, spastic quadriplegic, 3, formerly",
          "spastic paraplegia 50, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013048"
    },
    {
      "id": 14377,
      "label": "hereditary spastic paraplegia 48",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4625,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110800",
          "GARD:0017378",
          "MEDGEN:462251",
          "OMIM:613647",
          "Orphanet:306511",
          "SCTID:763367009",
          "UMLS:C3150901"
        ],
        "synonyms": [
          "AP5Z1 hereditary spastic paraplegia",
          "SPG48",
          "autosomal recessive spastic paraplegia type 48",
          "hereditary spastic paraplegia caused by mutation in AP5Z1",
          "hereditary spastic paraplegia type 48",
          "spastic paraplegia 48, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013342"
    },
    {
      "id": 14433,
      "label": "hereditary spastic paraplegia 51",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        23918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110803",
          "GARD:0013737",
          "MEDGEN:462406",
          "NORD:1990",
          "OMIM:613744",
          "UMLS:C3151056"
        ],
        "synonyms": [
          "AP4E1 hereditary spastic paraplegia",
          "SPG51",
          "Spastic Paraplegia 51",
          "hereditary spastic paraplegia caused by mutation in AP4E1",
          "hereditary spastic paraplegia type 51",
          "cerebral palsy, spastic quadriplegic, 4",
          "cerebral palsy, spastic quadriplegic, 4, formerly",
          "spastic paraplegia 51, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013401"
    },
    {
      "id": 14579,
      "label": "hereditary spastic paraplegia 47",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        23918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110799",
          "GARD:0015749",
          "MEDGEN:481368",
          "NCIT:C164224",
          "NORD:1993",
          "OMIM:614066",
          "UMLS:C3279738"
        ],
        "synonyms": [
          "AP4B1 hereditary spastic paraplegia",
          "SPG47",
          "Spastic Paraplegia 47",
          "hereditary spastic paraplegia 47",
          "hereditary spastic paraplegia caused by mutation in AP4B1",
          "hereditary spastic paraplegia type 47",
          "cerebral palsy, spastic quadriplegic, 5",
          "cerebral palsy, spastic quadriplegic, 5, formerly",
          "spastic paraplegia 47, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013551"
    },
    {
      "id": 14580,
      "label": "hereditary spastic paraplegia 52",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959,
        23918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110804",
          "GARD:0015750",
          "MEDGEN:481373",
          "NORD:1991",
          "OMIM:614067",
          "UMLS:C3279743"
        ],
        "synonyms": [
          "AP4S1 hereditary spastic paraplegia",
          "SPG52",
          "Spastic Paraplegia 52",
          "hereditary spastic paraplegia 52",
          "hereditary spastic paraplegia caused by mutation in AP4S1",
          "hereditary spastic paraplegia type 52",
          "cerebral palsy, spastic quadriplegic, 6",
          "cerebral palsy, spastic quadriplegic, 6, formerly",
          "spastic paraplegia 52, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013552"
    },
    {
      "id": 15025,
      "label": "hereditary spastic paraplegia 56",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110808",
          "GARD:0017480",
          "MEDGEN:761343",
          "OMIM:615030",
          "Orphanet:320411",
          "UMLS:C3539507"
        ],
        "synonyms": [
          "CYP2U1 hereditary spastic paraplegia",
          "SPG56",
          "autosomal recessive spastic paraplegia type 56",
          "hereditary spastic paraplegia caused by mutation in CYP2U1",
          "hereditary spastic paraplegia type 56",
          "spastic paraplegia 56, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014015"
    },
    {
      "id": 15215,
      "label": "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112344",
          "GARD:0017523",
          "MEDGEN:815995",
          "OMIM:615491",
          "Orphanet:352654",
          "UMLS:C3809665"
        ],
        "synonyms": [
          "NDGOA",
          "SPG79",
          "neurodegeneration with optic atrophy, childhood-onset",
          "spastic paraplegia 79, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014209"
    },
    {
      "id": 15863,
      "label": "hereditary spastic paraplegia 77",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110822",
          "GARD:0017827",
          "MEDGEN:1800430",
          "OMIM:617046",
          "Orphanet:466722",
          "UMLS:C5569007"
        ],
        "synonyms": [
          "FARS2 hereditary spastic paraplegia",
          "SPG77",
          "hereditary spastic paraplegia caused by mutation in FARS2",
          "hereditary spastic paraplegia type 77",
          "spastic paraplegia 77, autosomal recessive",
          "autosomal recessive spastic paraplegia type 77"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014882"
    },
    {
      "id": 16081,
      "label": "pure hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019822",
          "MEDGEN:581445",
          "NANDO:1200053",
          "Orphanet:102012",
          "SCTID:230260007",
          "UMLS:C0393555"
        ],
        "synonyms": [
          "Pure HSP",
          "Pure SPG",
          "Pure familial spastic paraplegia",
          "uncomplicated HSP",
          "uncomplicated SPG",
          "uncomplicated familial spastic paraplegia",
          "uncomplicated hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0015149"
    },
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019823",
          "MEDGEN:581446",
          "NANDO:1200054",
          "Orphanet:102013",
          "SCTID:230261006",
          "UMLS:C0393556"
        ],
        "synonyms": [
          "Complex HSP",
          "Complex SPG",
          "Complex familial spastic paraplegia",
          "complicated HSP",
          "complicated SPG",
          "complicated familial spastic paraplegia",
          "complicated hereditary spastic paraplegia",
          "syndrome associated with hereditary spastic paraplegia",
          "syndromic hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that is part of a larger syndrome."
      },
      "child_count": 100,
      "reference_id": "MONDO:0015150"
    },
    {
      "id": 18117,
      "label": "pure or complex hereditary spastic paraplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021429",
          "MEDGEN:1843255",
          "Orphanet:320335",
          "UMLS:C5679885"
        ],
        "synonyms": [
          "Pure or complex familial spastic paraplegia",
          "Pure or complicated familial spastic paraplegia",
          "Pure or complicated hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017913"
    },
    {
      "id": 22199,
      "label": "spastic paraplegia 87, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070456",
          "GARD:0025676",
          "MEDGEN:1813069",
          "OMIM:619966",
          "Orphanet:631088",
          "UMLS:C5774182"
        ],
        "synonyms": [
          "SPG87",
          "autosomal recessive spastic paraplegia type 87",
          "spastic paraplegia 87, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031019"
    },
    {
      "id": 22397,
      "label": "spastic paraplegia 80, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112341",
          "GARD:0025732",
          "MEDGEN:1682111",
          "OMIM:618418",
          "Orphanet:631068",
          "UMLS:C5193084"
        ],
        "synonyms": [
          "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT",
          "SPG80",
          "autosomal dominant spastic paraplegia type 80"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032737"
    },
    {
      "id": 22557,
      "label": "spastic paraplegia 81, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025770",
          "MEDGEN:1711668",
          "OMIM:618768",
          "UMLS:C5394033"
        ],
        "synonyms": [
          "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE",
          "SPG81"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032905"
    },
    {
      "id": 22558,
      "label": "spastic paraplegia 82, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112343",
          "GARD:0025771",
          "MEDGEN:1710411",
          "OMIM:618770",
          "Orphanet:631073",
          "UMLS:C5394037"
        ],
        "synonyms": [
          "SPG82",
          "autosomal recessive spastic paraplegia type 82",
          "spastic paraplegia 82, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0032906"
    },
    {
      "id": 22697,
      "label": "spastic paraplegia 83, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112346",
          "GARD:0025812",
          "MEDGEN:1759445",
          "OMIM:619027",
          "Orphanet:631076",
          "UMLS:C5436637"
        ],
        "synonyms": [
          "SPG83",
          "autosomal recessive spastic paraplegia type 83"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033614"
    },
    {
      "id": 25443,
      "label": "spastic paraplegia 88, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070457",
          "GARD:0026689",
          "MEDGEN:1824020",
          "OMIM:620106",
          "UMLS:C5774247"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859309"
    },
    {
      "id": 25489,
      "label": "spastic paraplegia 79A, autosomal dominant, with ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070455",
          "GARD:0026717",
          "MEDGEN:1824073",
          "OMIM:620221",
          "UMLS:C5774300"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859363"
    },
    {
      "id": 25640,
      "label": "spastic paraplegia 89, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070458",
          "GARD:0026808",
          "MEDGEN:1841167",
          "OMIM:620379",
          "UMLS:C5830531"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957274"
    },
    {
      "id": 25650,
      "label": "spastic paraplegia 90A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070459",
          "GARD:0026815",
          "MEDGEN:1841210",
          "OMIM:620416",
          "UMLS:C5830574"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957308"
    },
    {
      "id": 25651,
      "label": "spastic paraplegia 90B, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
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}