{
  "id": 19711,
  "label": "autosomal recessive congenital cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020043",
  "properties": {
    "xrefs": [
      "GARD:0019412",
      "MEDGEN:1843070",
      "Orphanet:98095",
      "UMLS:C5681519"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10203,
      "label": "autosomal recessive spinocerebellar ataxia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080061",
          "GARD:0001199",
          "MEDGEN:349134",
          "MESH:C565865",
          "OMIM:213200",
          "Orphanet:1170",
          "SCTID:715369006",
          "UMLS:C1859298"
        ],
        "synonyms": [
          "PMPCA autosomal recessive congenital cerebellar ataxia",
          "SCAR2",
          "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA",
          "autosomal recessive spinocerebellar ataxia type 2",
          "CPD 3",
          "CPD3",
          "CPDIII",
          "autosomal recessive cerebelloparenchymal disorder type 3",
          "cerebellar granular cell hypoplasia and intellectual disability, congenital",
          "cerebellar granular cell hypoplasia and mental retardation, congenital",
          "cerebellar hypoplasia, nonprogressive Norman type",
          "cerebelloparenchymal disorder 3",
          "spinocerebellar ataxia, autosomal recessive 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008943"
    },
    {
      "id": 10377,
      "label": "cerebellar ataxia, intellectual disability, and dysequilibrium",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050997",
          "GARD:0001998",
          "MEDGEN:98295",
          "MESH:C535731",
          "MedDRA:10013140",
          "NCIT:C114781",
          "OMIMPS:224050",
          "Orphanet:1766",
          "SCTID:230782004",
          "UMLS:C0394006"
        ],
        "synonyms": [
          "CAMRQ syndrome",
          "cerebellar ataxia, mental retardation and dysequlibrium syndrome",
          "cerebellar ataxia, mental retardation, and dysequilibrium",
          "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome",
          "dialysis dysequilibrium syndrome",
          "dysequilibrium syndrome",
          "non-progressive cerebellar ataxia-intellectual disability syndrome",
          "DES",
          "VLDLRCH",
          "cerebellar disorder, nonprogressive, with mental retardation",
          "cerebellar hypoplasia, VLDLR associated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009133"
    },
    {
      "id": 12151,
      "label": "Cayman type cerebellar ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060694",
          "GARD:0016836",
          "MEDGEN:331319",
          "MESH:C563363",
          "OMIM:601238",
          "Orphanet:94122",
          "SCTID:717332007",
          "UMLS:C1832585"
        ],
        "synonyms": [
          "Cayman ataxia",
          "Cayman type cerebellar ataxia",
          "ataxia, cerebellar, Cayman type",
          "ATCAY",
          "cerebellar ataxia, CAYMAN type",
          "cerebellar ataxia, Cayman type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011025"
    },
    {
      "id": 15502,
      "label": "autosomal recessive spinocerebellar ataxia 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080064",
          "GARD:0017786",
          "MEDGEN:863738",
          "OMIM:616127",
          "Orphanet:453521",
          "UMLS:C4015301"
        ],
        "synonyms": [
          "CWF19L1 autosomal recessive congenital cerebellar ataxia",
          "SCAR17",
          "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1",
          "autosomal recessive spinocerebellar ataxia type 17",
          "spinocerebellar ataxia autosomal recessive type 17",
          "spinocerebellar ataxia, autosomal recessive type 17",
          "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency",
          "spinocerebellar ataxia, autosomal recessive 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014503"
    },
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019931",
          "MEDGEN:1826007",
          "NANDO:1200661",
          "NANDO:2100218",
          "NANDO:2200824",
          "Orphanet:140874",
          "UMLS:C5679612"
        ],
        "synonyms": [
          "JSRD",
          "Joubert syndrome and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015369"
    },
    {
      "id": 19208,
      "label": "CAMOS syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009977",
          "MEDGEN:1387501",
          "OMIM:606937",
          "Orphanet:83472",
          "SCTID:726031001",
          "UMLS:C4511633"
        ],
        "synonyms": [
          "SCAR5",
          "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome",
          "CAMOS",
          "cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities",
          "cerebellar ataxia with mental retardation optic atrophy and skin abnormalities",
          "spinocerebellar ataxia autosomal recessive 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019374"
    },
    {
      "id": 22740,
      "label": "congenital cerebellar ataxia due to RNU12 mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022075",
          "MEDGEN:1799317",
          "Orphanet:512260",
          "UMLS:C5567894"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033717"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}