{
  "id": 24046,
  "label": "hereditary cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100310",
  "properties": {
    "xrefs": [
      "GARD:0026137",
      "MEDGEN:78726",
      "NCIT:C140268",
      "UMLS:C0270749"
    ],
    "synonyms": [
      "cerebellar hereditary ataxia",
      "hereditary cerebellar ataxia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Cerebellar ataxia that is transmitted from parent to child."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2908,
      "label": "cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        20940,
        24044
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050753",
          "GARD:0019816",
          "ICD9:334.3",
          "MEDGEN:849",
          "MESH:D002524",
          "NANDO:1200037",
          "NANDO:2100238",
          "NANDO:2200882",
          "NCIT:C82341",
          "Orphanet:102002",
          "SCTID:85102008",
          "UMLS:C0007758"
        ],
        "synonyms": [
          "ataxia syndrome",
          "cerebellar ataxias",
          "spinocerebellar ataxia",
          "spinocerebellar degeneration",
          "ataxia",
          "ataxia, cerebellar",
          "ataxias, cerebellar",
          "cerebellar dysmetria",
          "cerebellar dysmetrias",
          "rare ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000437"
    },
    {
      "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": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [
    {
      "id": 9362,
      "label": "ataxia-pancytopenia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003865",
          "MEDGEN:230896",
          "MESH:C563233",
          "NCIT:C176909",
          "OMIM:159550",
          "Orphanet:2585",
          "SCTID:768556005",
          "UMLS:C1327919"
        ],
        "synonyms": [
          "ataxia-pancytopenia syndrome",
          "myelocerebellar disorder",
          "ATXPC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008038"
    },
    {
      "id": 10107,
      "label": "ataxia telangiectasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075,
        19578,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12704",
          "GARD:0005862",
          "ICD9:334.8",
          "MEDGEN:439",
          "MESH:D001260",
          "MedDRA:10003594",
          "NANDO:1200331",
          "NANDO:2200705",
          "NCIT:C2887",
          "NORD:816",
          "OMIM:208900",
          "Orphanet:100",
          "SCTID:68504005",
          "UMLS:C0004135"
        ],
        "synonyms": [
          "Louis-Bar syndrome",
          "ataxia - telangiectasia",
          "ataxia telangiectasia",
          "ataxia telangiectasia syndrome",
          "AT",
          "AT, complementation group A",
          "AT, complementation group C",
          "AT, complementation group D",
          "AT, complementation group E",
          "AT1",
          "ataxia - telangiectasia variant",
          "ataxia-telangiectasia",
          "cerebello-oculocutaneous telangiectasia",
          "immunodeficiency with ataxia telangiectasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008840"
    },
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050950",
          "GARD:0018718",
          "MEDGEN:1843058",
          "OMIMPS:213200",
          "Orphanet:1172",
          "UMLS:C5575375"
        ],
        "synonyms": [
          "ARCA",
          "arca",
          "cerebellar ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    },
    {
      "id": 17096,
      "label": "X-linked cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050953",
          "DOID:0111828",
          "GARD:0020665",
          "Orphanet:247765"
        ],
        "synonyms": [
          "X-linked hereditary ataxia",
          "cerebellar ataxia, X-linked",
          "hereditary ataxia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of cerebellar ataxia."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016612"
    },
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16360,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1441",
          "GARD:0004346",
          "ICD9:334.3",
          "MEDGEN:1684639",
          "NORD:825",
          "OMIMPS:164400",
          "Orphanet:99",
          "SCTID:129609000",
          "UMLS:C4087347"
        ],
        "synonyms": [
          "SCA",
          "spinocerebellar ataxia",
          "ADCA",
          "Autosomal Dominant Hereditary Ataxia",
          "autosomal dominant spinocerebellar ataxia",
          "cerebellar ataxia, autosomal dominant",
          "Pierre Marie cerebellar ataxia (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020380"
    }
  ],
  "roots": [
    {
      "id": 2908,
      "label": "cerebellar ataxia"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}