{
  "id": 16056,
  "label": "autosomal dominant complex spastic paraplegia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015087",
  "properties": {
    "xrefs": [
      "GARD:0019770",
      "MEDGEN:1842369",
      "Orphanet:100979",
      "UMLS:C5680379"
    ],
    "synonyms": [
      "autosomal dominant complex HSP",
      "autosomal dominant complex SPG",
      "autosomal dominant complex hereditary spastic paraplegia",
      "autosomal dominant complicated HSP",
      "autosomal dominant complicated SPG",
      "autosomal dominant complicated spastic paraplegia",
      "complex hereditary spastic paraplegia, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant form of complex hereditary spastic paraplegia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9732,
      "label": "spastic paraplegia-epilepsy-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004915",
          "MEDGEN:356631",
          "MESH:C536869",
          "OMIM:182610",
          "Orphanet:2816",
          "UMLS:C1866854"
        ],
        "synonyms": [
          "SPEMR",
          "spastic paraplegia epilepsy intellectual disability",
          "spastic paraplegia epilepsy mental retardation",
          "spastic paraplegia, epilepsy, and intellectual disability",
          "spastic paraplegia, epilepsy, and mental retardation",
          "spemr"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008439"
    },
    {
      "id": 9733,
      "label": "spastic paraplegia-nephritis-deafness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002342",
          "MEDGEN:355816",
          "MESH:C537937",
          "OMIM:182690",
          "Orphanet:2820",
          "UMLS:C1866853"
        ],
        "synonyms": [
          "Fitzsimmons-Walson-Mellor syndrome",
          "Fitzsimmons Walson Mellor syndrome",
          "spastic paraplegia - nephritis - deafness",
          "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy",
          "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy",
          "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008440"
    },
    {
      "id": 9735,
      "label": "spastic paraplegia-neuropathy-poikiloderma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004921",
          "MEDGEN:355814",
          "MESH:C536870",
          "OMIM:182815",
          "Orphanet:2821",
          "UMLS:C1866851"
        ],
        "synonyms": [
          "Antinolo-Nieto-Borrego syndrome",
          "familial spastic paraplegia with neuropathy and poikiloderma",
          "spastic paraplegia neuropathy poikiloderma",
          "spastic paraplegia with neuropathy and poikiloderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008442"
    },
    {
      "id": 9736,
      "label": "spastic paraplegia-precocious puberty syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004918",
          "MEDGEN:401096",
          "MESH:C536874",
          "OMIM:182820",
          "Orphanet:2826",
          "UMLS:C1866850"
        ],
        "synonyms": [
          "familial spastic paraplegia, intellectual disability, and precocious puberty",
          "familial spastic paraplegia, mental retardation, and precocious puberty",
          "precocious puberty with spastic paraplegia",
          "spastic paraplegia with precocious puberty"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008443"
    },
    {
      "id": 11236,
      "label": "hereditary spastic paraplegia 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056,
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110770",
          "GARD:0004219",
          "MEDGEN:419034",
          "MESH:C536644",
          "OMIM:270685",
          "Orphanet:100998",
          "UMLS:C2931276"
        ],
        "synonyms": [
          "BSCL2 hereditary spastic paraplegia",
          "SPG17",
          "Silver spastic paraplegia syndrome",
          "Silver syndrome",
          "autosomal dominant spastic paraplegia type 17",
          "hereditary spastic paraplegia caused by mutation in BSCL2",
          "hereditary spastic paraplegia type 17",
          "spastic paraplegia with amyotrophy of hands and feet",
          "spastic paraplegia-amyotrophy of hands and feet",
          "spastic paraplegia 17",
          "spastic paraplegia 17, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010043"
    },
    {
      "id": 13389,
      "label": "hereditary spastic paraplegia 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110780",
          "GARD:0009729",
          "MEDGEN:346682",
          "MESH:C536863",
          "OMIM:609727",
          "Orphanet:101009",
          "SCTID:733029008",
          "UMLS:C1857855"
        ],
        "synonyms": [
          "SPG29",
          "hereditary spastic paraplegia type 29",
          "autosomal dominant spastic paraplegia type 29",
          "spastic paraplegia 29",
          "spastic paraplegia 29, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012334"
    },
    {
      "id": 13907,
      "label": "hereditary spastic paraplegia 38",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110789",
          "GARD:0017065",
          "MEDGEN:436764",
          "MESH:C567349",
          "OMIM:612335",
          "Orphanet:171617",
          "UMLS:C2676732"
        ],
        "synonyms": [
          "SPG38",
          "autosomal dominant spastic paraplegia type 38",
          "hereditary spastic paraplegia type 38",
          "spastic paraplegia 38, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012867"
    },
    {
      "id": 14169,
      "label": "hereditary spastic paraplegia 36",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110787",
          "GARD:0017472",
          "MEDGEN:422457",
          "MESH:C567930",
          "OMIM:613096",
          "Orphanet:320365",
          "SCTID:723819007",
          "UMLS:C2936879"
        ],
        "synonyms": [
          "SPG36",
          "autosomal dominant spastic paraplegia type 36",
          "hereditary spastic paraplegia type 36",
          "spastic paraplegia 36, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013132"
    },
    {
      "id": 15983,
      "label": "spastic paraplegia, intellectual disability, nystagmus, and obesity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017957",
          "MEDGEN:924883",
          "OMIM:617296",
          "Orphanet:521390",
          "UMLS:C4284592"
        ],
        "synonyms": [
          "spastic paraplegia, intellectual disability, nystagmus, and obesity",
          "SINO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015007"
    },
    {
      "id": 16057,
      "label": "autosomal dominant spastic paraplegia type 9",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16056,
        23875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025059",
          "MEDGEN:322007",
          "Orphanet:100990",
          "UMLS:C1832669",
          "icd11.foundation:1867328407"
        ],
        "synonyms": [
          "ALDH18A1 autosomal dominant complex spastic paraplegia",
          "SPG9",
          "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1",
          "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome",
          "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome",
          "autosomal dominant spastic paraparesis",
          "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy",
          "cataracts, motor neuronopathy, short stature and skeletal abnormalities",
          "spastic paraplegia 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015091"
    },
    {
      "id": 17599,
      "label": "spastic paraplegia-facial-cutaneous lesions syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000806",
          "MEDGEN:419453",
          "MESH:C537797",
          "Orphanet:2819",
          "SCTID:763403007",
          "UMLS:C2931617"
        ],
        "synonyms": [
          "Bahemuka-Brown syndrome",
          "Bahemuka Brown syndrome",
          "spastic paraplegia facial cutaneous lesions"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017275"
    },
    {
      "id": 18180,
      "label": "spastic paraplegia-Paget disease of bone syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021491",
          "MEDGEN:1388986",
          "Orphanet:329475",
          "UMLS:C4511969"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018005"
    },
    {
      "id": 25742,
      "label": "spastic paraplegia 18a, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13683,
        16056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070640",
          "GARD:0026873",
          "MEDGEN:1844217",
          "OMIM:620512",
          "UMLS:C5882694"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957788"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    }
  ]
}