{
  "id": 18327,
  "label": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018189",
  "properties": {
    "xrefs": [
      "GARD:0017556",
      "MEDGEN:1644588",
      "Orphanet:363429",
      "UMLS:C4706388"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019413",
          "MEDGEN:1842756",
          "Orphanet:98096",
          "UMLS:C5681517"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020044"
    }
  ],
  "children": [
    {
      "id": 14917,
      "label": "autosomal recessive spinocerebellar ataxia 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080062",
          "GARD:0017481",
          "MEDGEN:766730",
          "OMIM:614831",
          "Orphanet:324262",
          "UMLS:C3553816"
        ],
        "synonyms": [
          "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome",
          "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome",
          "SCAR13",
          "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1",
          "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1",
          "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency",
          "autosomal recessive spinocerebellar ataxia 13",
          "autosomal recessive spinocerebellar ataxia type 13",
          "spinocerebellar ataxia, autosomal recessive type 13",
          "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency",
          "spinocerebellar ataxia, autosomal recessive 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013905"
    },
    {
      "id": 15529,
      "label": "autosomal recessive spinocerebellar ataxia 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18327
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080042",
          "GARD:0017557",
          "MEDGEN:863942",
          "OMIM:616204",
          "Orphanet:363432",
          "UMLS:C4015505"
        ],
        "synonyms": [
          "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome",
          "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome",
          "SCAR18",
          "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2",
          "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2",
          "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency",
          "autosomal recessive spinocerebellar ataxia type 18",
          "spinocerebellar ataxia, autosomal recessive type 18",
          "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency",
          "spinocerebellar ataxia, autosomal recessive 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014530"
    }
  ],
  "roots": [
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia"
    }
  ]
}