{
  "id": 17096,
  "label": "X-linked cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016612",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2908,
        21292,
        24045
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100310"
    }
  ],
  "children": [
    {
      "id": 10105,
      "label": "ataxia - deafness - intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004644",
          "MEDGEN:208659",
          "MESH:C535295",
          "OMIM:208850",
          "Orphanet:1188",
          "SCTID:720517001",
          "UMLS:C0796045",
          "icd11.foundation:2133046984"
        ],
        "synonyms": [
          "Reardon-Baraitser syndrome",
          "ataxia-hearing loss-intellectual disability syndrome",
          "Adr syndrome",
          "Reardon Wilson Cavanagh syndrome",
          "ataxia, hearing loss, and intellectual disability",
          "ataxia, hearing loss, and mental retardation",
          "ataxia-deafness-retardation syndrome",
          "familial ataxia, deafness, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008838"
    },
    {
      "id": 11545,
      "label": "fragile X-associated tremor/ataxia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050879",
          "GARD:0016806",
          "MEDGEN:333403",
          "MESH:C564105",
          "NANDO:1200690",
          "NANDO:1200691",
          "NCIT:C126566",
          "OMIM:300623",
          "Orphanet:93256",
          "SCTID:448045004",
          "UMLS:C1839780"
        ],
        "synonyms": [
          "FXTAS syndrome",
          "Fragile X tremor/ataxia syndrome, X-linked dominant",
          "FXTAS",
          "fragile 10 tremor/ataxia syndrome",
          "fragile X tremor/ataxia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010382"
    },
    {
      "id": 11565,
      "label": "X-linked non progressive cerebellar ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111833",
          "GARD:0017439",
          "MEDGEN:394718",
          "MESH:C567478",
          "OMIM:300703",
          "Orphanet:314978",
          "SCTID:766818009",
          "UMLS:C2678048"
        ],
        "synonyms": [
          "SCAX5",
          "X-linked spinocerebellar ataxia type 5",
          "spinocerebellar ataxia, X-linked 5, X-linked recessive",
          "spinocerebellar ataxia, X-linked 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010404"
    },
    {
      "id": 11681,
      "label": "X-linked sideroblastic anemia with ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096,
        19734,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050554",
          "DOID:0060064",
          "GARD:0000668",
          "MEDGEN:335078",
          "MESH:C536358",
          "OMIM:301310",
          "Orphanet:2802",
          "SCTID:719816006",
          "UMLS:C1845028"
        ],
        "synonyms": [
          "ASAT",
          "Pagon-Bird-Detter syndrome",
          "X-linked sideroblastic anaemia with spinocerebellar ataxia",
          "X-linked sideroblastic anemia with ataxia",
          "X-linked sideroblastic anemia with spinocerebellar ataxia",
          "XLSA-A",
          "anaemia sideroblastic and spinocerebellar ataxia",
          "anemia, sideroblastic, with ataxia, X-linked recessive",
          "sideroblastic anaemia with spinocerebellar ataxia",
          "sideroblastic anemia with spinocerebellar ataxia",
          "Pagon Bird Detter syndrome",
          "X-linked sideroblastic Anaemia and ataxia",
          "X-linked sideroblastic Anemia and ataxia",
          "X-linked sideroblastic anaemia and spinocerebellar ataxia",
          "X-linked sideroblastic anemia and spinocerebellar ataxia",
          "Xlsa-A",
          "anemia, Sex-linked hypochromic Siderobla",
          "anemia, sideroblastic, and spinocerebellar ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010524"
    },
    {
      "id": 11685,
      "label": "X-linked spinocerebellar ataxia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111831",
          "GARD:0009981",
          "MEDGEN:337124",
          "MESH:C537315",
          "OMIM:301790",
          "Orphanet:85297",
          "SCTID:719817002",
          "UMLS:C1844936",
          "icd11.foundation:261426817"
        ],
        "synonyms": [
          "SCAX3",
          "X-linked ataxia-deafness syndrome",
          "spinocerebellar ataxia, X-linked type 3",
          "Scax3",
          "ataxia-deafness syndrome X-linked",
          "ataxia-deafness syndrome, X-linked",
          "spinocerebellar ataxia X-linked type 3",
          "spinocerebellar ataxia, X-linked 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010529"
    },
    {
      "id": 11689,
      "label": "X-linked spinocerebellar ataxia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111832",
          "GARD:0009980",
          "MEDGEN:337122",
          "MESH:C537316",
          "OMIM:301840",
          "Orphanet:85292",
          "SCTID:719818007",
          "UMLS:C1844933",
          "icd11.foundation:1033689736"
        ],
        "synonyms": [
          "SCAX4",
          "X-linked ataxia-dementia syndrome",
          "spinocerebellar ataxia, X-linked type 4",
          "Scax4",
          "ataxia-dementia syndrome X-linked",
          "ataxia-dementia syndrome, X-linked",
          "spinocerebellar ataxia X-linked type 4",
          "spinocerebellar ataxia, X-linked 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010534"
    },
    {
      "id": 11702,
      "label": "X-linked progressive cerebellar ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111829",
          "GARD:0016558",
          "MEDGEN:163229",
          "MESH:C563134",
          "OMIM:302500",
          "Orphanet:1175",
          "UMLS:C0796205"
        ],
        "synonyms": [
          "spinocerebellar ataxia, X-linked 1, X-linked recessive",
          "spinocerebellar ataxia, X-linked type 1",
          "OPCA, X-linked",
          "SCAX1",
          "olivopontocerebellar atrophy, X-linked",
          "spinocerebellar ataxia, X-linked 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010547"
    },
    {
      "id": 11703,
      "label": "spinocerebellar ataxia, X-linked 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111830",
          "GARD:0009978",
          "MEDGEN:375535",
          "MESH:C537314",
          "OMIM:302600",
          "UMLS:C1844885"
        ],
        "synonyms": [
          "spinocerebellar ataxia, X-linked 2",
          "spinocerebellar ataxia, X-linked type 2",
          "Scax2",
          "cerebellar ataxia with extrapyramidal involvement early-onset",
          "cerebellar ataxia with extrapyramidal involvement, early-onset",
          "spinocerebellar ataxia X-linked type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010548"
    },
    {
      "id": 19257,
      "label": "X-linked intellectual disability-ataxia-apraxia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019063",
          "MEDGEN:930808",
          "Orphanet:85338",
          "UMLS:C4305139"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019430"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia"
    }
  ]
}