{
  "id": 16081,
  "label": "pure hereditary spastic paraplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015149",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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"
    }
  ],
  "children": [
    {
      "id": 11579,
      "label": "hereditary spastic paraplegia 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110785",
          "GARD:0017063",
          "MEDGEN:437069",
          "MESH:C567465",
          "OMIM:300750",
          "Orphanet:171607",
          "SCTID:763370008",
          "UMLS:C2677897"
        ],
        "synonyms": [
          "SPG34",
          "X-linked spastic paraplegia type 34",
          "hereditary spastic paraplegia type 34",
          "spastic paraplegia 34, X-linked, X-linked recessive",
          "spastic paraplegia 34, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010418"
    },
    {
      "id": 12449,
      "label": "hereditary spastic paraplegia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110823",
          "GARD:0009591",
          "MEDGEN:400359",
          "MESH:C580458",
          "OMIM:603563",
          "Orphanet:100989",
          "UMLS:C1863704"
        ],
        "synonyms": [
          "SPG8",
          "WASHC5 hereditary spastic paraplegia",
          "autosomal dominant spastic paraplegia type 8",
          "hereditary spastic paraplegia caused by mutation in WASHC5",
          "hereditary spastic paraplegia type 8",
          "spastic paraplegia 8",
          "spastic paraplegia 8, 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 WASHC5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011339"
    },
    {
      "id": 12591,
      "label": "hereditary spastic paraplegia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110765",
          "GARD:0009586",
          "MEDGEN:347618",
          "MESH:C537484",
          "OMIM:604805",
          "Orphanet:100993",
          "SCTID:763374004",
          "UMLS:C1858106"
        ],
        "synonyms": [
          "RTN2 hereditary spastic paraplegia",
          "SPG12",
          "autosomal dominant spastic paraplegia type 12",
          "hereditary spastic paraplegia caused by mutation in RTN2",
          "hereditary spastic paraplegia type 12",
          "spastic paraplegia 12",
          "spastic paraplegia 12, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011489"
    },
    {
      "id": 12869,
      "label": "hereditary spastic paraplegia 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110772",
          "GARD:0009588",
          "MEDGEN:335494",
          "MESH:C536856",
          "OMIM:607152",
          "Orphanet:100999",
          "SCTID:763375003",
          "UMLS:C1846685"
        ],
        "synonyms": [
          "SPG19",
          "autosomal dominant spastic paraplegia type 19",
          "hereditary spastic paraplegia type 19",
          "spastic paraplegia 19",
          "spastic paraplegia 19, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011785"
    },
    {
      "id": 13315,
      "label": "hereditary spastic paraplegia 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110779",
          "GARD:0016941",
          "MEDGEN:332174",
          "MESH:C563732",
          "OMIM:609340",
          "Orphanet:101008",
          "SCTID:763376002",
          "UMLS:C1836295"
        ],
        "synonyms": [
          "DDHD1 autosomal recessive pure spastic paraplegia",
          "SPG28",
          "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1",
          "autosomal recessive spastic paraplegia type 28",
          "hereditary spastic paraplegia 28",
          "hereditary spastic paraplegia type 28",
          "spastic paraplegia 28, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012256"
    },
    {
      "id": 13806,
      "label": "hereditary spastic paraplegia 37",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110788",
          "GARD:0017064",
          "MEDGEN:422458",
          "MESH:C567931",
          "OMIM:611945",
          "Orphanet:171612",
          "SCTID:763369007",
          "UMLS:C2936880"
        ],
        "synonyms": [
          "SPG37",
          "autosomal dominant spastic paraplegia type 37",
          "hereditary spastic paraplegia type 37",
          "spastic paraplegia 37, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012766"
    },
    {
      "id": 13968,
      "label": "hereditary spastic paraplegia 42",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110794",
          "GARD:0017073",
          "MEDGEN:393407",
          "MESH:C567262",
          "OMIM:612539",
          "Orphanet:171863",
          "SCTID:763070001",
          "UMLS:C2675528"
        ],
        "synonyms": [
          "SLC33A1 autosomal dominant pure spastic paraplegia",
          "SPG42",
          "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1",
          "autosomal dominant spastic paraplegia type 42",
          "hereditary spastic paraplegia type 42",
          "spastic paraplegia 42, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012928"
    },
    {
      "id": 14275,
      "label": "hereditary spastic paraplegia 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110793",
          "GARD:0017471",
          "MEDGEN:854815",
          "OMIM:613364",
          "Orphanet:320355",
          "SCTID:763069002",
          "UMLS:C3888208"
        ],
        "synonyms": [
          "SPG41",
          "autosomal dominant spastic paraplegia type 41",
          "hereditary spastic paraplegia type 41",
          "spastic paraplegia 41, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013239"
    },
    {
      "id": 15286,
      "label": "hereditary spastic paraplegia 72",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110817",
          "GARD:0017660",
          "MEDGEN:1847422",
          "OMIM:615625",
          "Orphanet:401849",
          "UMLS:C5882669"
        ],
        "synonyms": [
          "REEP2 pure hereditary spastic paraplegia",
          "SPG72",
          "autosomal spastic paraplegia type 72",
          "hereditary spastic paraplegia type 72",
          "pure hereditary spastic paraplegia caused by mutation in REEP2",
          "spastic paraplegia 72, autosomal dominant",
          "spastic paraplegia 72, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014282"
    },
    {
      "id": 15306,
      "label": "hereditary spastic paraplegia 62",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110813",
          "GARD:0017657",
          "MEDGEN:924879",
          "OMIM:615681",
          "Orphanet:401785",
          "SCTID:765045003",
          "UMLS:C4284588"
        ],
        "synonyms": [
          "ERLIN1 autosomal recessive pure spastic paraplegia",
          "SPG62",
          "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1",
          "autosomal recessive spastic paraplegia type 62",
          "hereditary spastic paraplegia type 62",
          "spastic paraplegia 62, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014302"
    },
    {
      "id": 15566,
      "label": "hereditary spastic paraplegia 73",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110818",
          "GARD:0017763",
          "MEDGEN:1800404",
          "OMIM:616282",
          "Orphanet:444099",
          "UMLS:C5568981"
        ],
        "synonyms": [
          "CPT1C autosomal dominant pure spastic paraplegia",
          "SPG73",
          "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C",
          "autosomal dominant spastic paraplegia type 73",
          "hereditary spastic paraplegia type 73",
          "spastic paraplegia 73, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014568"
    },
    {
      "id": 18472,
      "label": "autosomal recessive spastic paraplegia type 71",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021701",
          "MEDGEN:1680976",
          "Orphanet:401840",
          "UMLS:C5190578"
        ],
        "synonyms": [
          "SPG71"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018423"
    }
  ],
  "roots": [
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    }
  ]
}