{
  "id": 19713,
  "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020046",
  "properties": {
    "xrefs": [
      "GARD:0019415",
      "MEDGEN:1842627",
      "Orphanet:98098",
      "UMLS:C5681515"
    ],
    "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": 10200,
      "label": "early-onset cerebellar ataxia with retained tendon reflexes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002600",
          "ICD9:334.3",
          "MEDGEN:140726",
          "MESH:C535633",
          "OMIM:212895",
          "Orphanet:1177",
          "SCTID:230228004",
          "UMLS:C0393520"
        ],
        "synonyms": [
          "EOCA",
          "EOCARR",
          "Harding ataxia",
          "ataxia, harding type",
          "cerebellar ataxia early onset with retained tendon reflex",
          "cerebellar ataxia, early-onset, with retained tendon reflexes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008938"
    },
    {
      "id": 10788,
      "label": "Marinesco-Sjogren syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080195",
          "GARD:0008341",
          "ICD9:742.4",
          "MEDGEN:6222",
          "NANDO:1200485",
          "NORD:1406",
          "OMIM:248800",
          "Orphanet:559",
          "SCTID:80734006",
          "UMLS:C0024814"
        ],
        "synonyms": [
          "MSS",
          "Marinesco-Sjogren syndrome",
          "Marshall Smith Syndrome",
          "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism",
          "Marinesco-Sjogren syndrome-myopathy",
          "Marinesco-Sjogren-Garland syndrome",
          "Marinesco-Sjögren syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009567"
    },
    {
      "id": 11250,
      "label": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19713,
        24237
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050556",
          "DOID:0080126",
          "GARD:0004062",
          "MEDGEN:338613",
          "MESH:C535523",
          "OMIM:271245",
          "Orphanet:1186",
          "SCTID:724227000",
          "UMLS:C1849096"
        ],
        "synonyms": [
          "IOSCA",
          "OHAHA syndrome",
          "Ohaha syndrome",
          "TWNK autosomal recessive degenerative and progressive cerebellar ataxia",
          "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK",
          "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)",
          "mitochondrial DNA depletion syndrome type 7",
          "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome",
          "MTDPS7",
          "SCA8 (formerly)",
          "mitochondrial DNA depletion syndrome 7",
          "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis",
          "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis",
          "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis",
          "spinocerebellar ataxia 8",
          "spinocerebellar ataxia 8 (formerly)",
          "spinocerebellar ataxia 8, formerly",
          "spinocerebellar ataxia infantile with sensory neuropathy",
          "spinocerebellar ataxia, infantile, with sensory neuropathy",
          "spinocerebellar ataxia, infantile-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010060"
    },
    {
      "id": 12507,
      "label": "congenital cataracts-facial dysmorphism-neuropathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        17364,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016645",
          "ICD9:759.89",
          "MEDGEN:346973",
          "MESH:C565822",
          "OMIM:604168",
          "Orphanet:48431",
          "SCTID:702433001",
          "UMLS:C1858726"
        ],
        "synonyms": [
          "CCFDN",
          "congenital cataracts-facial dysmorphism-neuropathy syndrome",
          "cataract, congenital, with Facial Dysmorphism and neuropathy",
          "congenital cataracts, facial dysmorphism, and neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011402"
    },
    {
      "id": 23381,
      "label": "early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16222,
        18404,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017914",
          "MEDGEN:1798874",
          "Orphanet:496756",
          "UMLS:C5567451"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044651"
    },
    {
      "id": 24068,
      "label": "Friedreich ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12705",
          "GARD:0006468",
          "ICD10CM:G11.11",
          "ICD9:334.0",
          "MEDGEN:5276",
          "MESH:D005621",
          "MedDRA:10017374",
          "NCIT:C84718",
          "NORD:818",
          "Orphanet:95",
          "SCTID:10394003",
          "UMLS:C0016719",
          "icd11.foundation:980686666"
        ],
        "synonyms": [
          "FA",
          "FRDA",
          "Friedreich ataxia",
          "Friedreich's Ataxia",
          "Friedreich's ataxia",
          "Friedreich ataxia with retained reflexes",
          "hereditary spinal ataxia",
          "hereditary spinal sclerosis",
          "spinocerebellar ataxia, Friedreich"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100339"
    },
    {
      "id": 24176,
      "label": "FLVCR1-related retinopathy with or without ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000,
        19713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026224"
        ],
        "synonyms": [
          "FLVCR1 retinopathy with or without ataxia",
          "AXPC1",
          "PCARP",
          "ataxia, posterior column, with retinitis pigmentosa",
          "autosomal recessive posterior column ataxia and retinitis pigmentosa",
          "posterior column ataxia with retinitis pigmentosa",
          "posterior column ataxia-retinitis pigmentosa syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100449"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}