{
  "id": 18064,
  "label": "autosomal recessive spastic ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017847",
  "properties": {
    "xrefs": [
      "GARD:0021403",
      "MEDGEN:1826141",
      "Orphanet:316240",
      "UMLS:C5679900"
    ],
    "synonyms": [
      "AR-SPAX",
      "spastic ataxia, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of spastic ataxia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 18062,
      "label": "spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050952",
          "GARD:0021401",
          "MEDGEN:376528",
          "MESH:C564815",
          "OMIMPS:108600",
          "Orphanet:316226",
          "UMLS:C1849156"
        ],
        "synonyms": [
          "SPAX"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0017845"
    }
  ],
  "children": [
    {
      "id": 11234,
      "label": "Charlevoix-Saguenay spastic ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16133,
        18064
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050946",
          "GARD:0004910",
          "MEDGEN:338620",
          "MESH:C536787",
          "OMIM:270550",
          "Orphanet:98",
          "SCTID:702445005",
          "UMLS:C1849140"
        ],
        "synonyms": [
          "ARSACS",
          "Charlevoix-Saguenay spastic ataxia",
          "SPAX6",
          "autosomal recessive spastic ataxia type 6",
          "autosomal recessive spastic ataxia of Charlevoix-Saguenay",
          "sacs",
          "spastic ataxia 6, autosomal recessive",
          "spastic ataxia Charlevoix-Saguenay type",
          "spastic ataxia of Charlevoix-Saguenay",
          "spastic ataxia, Charlevoix-Saguenay type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010041"
    },
    {
      "id": 11253,
      "label": "spastic ataxia-corneal dystrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18064,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003795",
          "MEDGEN:336493",
          "MESH:C536989",
          "OMIM:271320",
          "Orphanet:2572",
          "SCTID:715465001",
          "UMLS:C1849085"
        ],
        "synonyms": [
          "Bedouin spastic ataxia syndrome",
          "Mousa-Al Din-Al Nassar syndrome",
          "spastic ataxia-ocular anomalies syndrome",
          "Mousa Al din Al Nassar syndrome",
          "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs",
          "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks",
          "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010064"
    },
    {
      "id": 13704,
      "label": "spastic ataxia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18064
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050942",
          "GARD:0017425",
          "MEDGEN:370715",
          "MESH:C566956",
          "OMIM:611390",
          "Orphanet:314603",
          "UMLS:C1969645"
        ],
        "synonyms": [
          "ARSAL",
          "MARS2 autosomal recessive spastic ataxia",
          "SPAX3",
          "autosomal recessive spastic ataxia caused by mutation in MARS2",
          "autosomal recessive spastic ataxia type 3",
          "spastic ataxia type 3",
          "autosomal recessive spastic ataxia with leukoencephalopathy",
          "spastic ataxia 3, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012664"
    },
    {
      "id": 14387,
      "label": "spastic ataxia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        18064
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050943",
          "GARD:0010992",
          "MEDGEN:462275",
          "OMIM:613672",
          "Orphanet:254343",
          "UMLS:C3150925"
        ],
        "synonyms": [
          "MTPAP autosomal recessive spastic ataxia",
          "SPAX4",
          "autosomal recessive spastic ataxia caused by mutation in MTPAP",
          "autosomal recessive spastic ataxia type 4",
          "spastic ataxia type 4",
          "autosomal recessive spastic ataxia - optic atrophy - dysarthria",
          "autosomal recessive spastic ataxia 4",
          "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome",
          "spastic ataxia 4, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013354"
    },
    {
      "id": 14794,
      "label": "spastic ataxia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18064,
        24746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050944",
          "GARD:0017409",
          "MEDGEN:482607",
          "OMIM:614487",
          "Orphanet:313772",
          "UMLS:C3280977"
        ],
        "synonyms": [
          "AFG3L2 autosomal recessive spastic ataxia",
          "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome",
          "AFG3L2-related spastic ataxia-neuropathy syndrome",
          "SPAX5",
          "autosomal recessive spastic ataxia caused by mutation in AFG3L2",
          "autosomal recessive spastic ataxia type 5",
          "spastic ataxia type 5",
          "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome",
          "spastic ataxia 5, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013776"
    },
    {
      "id": 22606,
      "label": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18064,
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080252",
          "GARD:0017964",
          "MEDGEN:1382553",
          "OMIM:617560",
          "Orphanet:527497",
          "UMLS:C4479653"
        ],
        "synonyms": [
          "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",
          "SPAX8",
          "spastic ataxia 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033043"
    },
    {
      "id": 22777,
      "label": "spastic ataxia-dysarthria due to glutaminase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18064,
        24378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022247",
          "MEDGEN:1814477",
          "Orphanet:557056",
          "UMLS:C5681336"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034146"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18062,
      "label": "spastic ataxia"
    }
  ]
}