{
  "id": 19712,
  "label": "autosomal recessive metabolic cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020044",
  "properties": {
    "xrefs": [
      "GARD:0019413",
      "MEDGEN:1842756",
      "Orphanet:98096",
      "UMLS:C5681517"
    ],
    "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": 9966,
      "label": "abetalipoproteinemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        6756,
        17998,
        19712,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1386",
          "GARD:0000005",
          "MEDGEN:1253",
          "MESH:D000012",
          "NANDO:1200857",
          "NANDO:2200604",
          "NCIT:C84525",
          "NORD:703",
          "OMIM:200100",
          "Orphanet:14",
          "SCTID:190787008",
          "UMLS:C0000744",
          "icd11.foundation:1117838449"
        ],
        "synonyms": [
          "Bassen-Kornzweig disease",
          "abetalipoproteinemia",
          "homozygous familial hypobetalipoproteinemia",
          "ABL",
          "Bassen Kornzweig syndrome",
          "Bassen-Kornzweig syndrome",
          "Betalipoprotein deficiency disease",
          "MTP deficiency",
          "abetalipoproteinemia neuropathy",
          "acanthocytosis",
          "apolipoprotein B deficiency",
          "congenital betalipoprotein deficiency syndrome",
          "microsomal triglyceride transfer Protein deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008692"
    },
    {
      "id": 10208,
      "label": "cerebrotendinous xanthomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4666,
        7019,
        16607,
        18952,
        19085,
        19144,
        19712,
        19748,
        19753,
        23512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4810",
          "GARD:0005622",
          "MEDGEN:116041",
          "MESH:D019294",
          "NANDO:1200856",
          "NCIT:C84628",
          "NORD:915",
          "OMIM:213700",
          "Orphanet:909",
          "SCTID:63246000",
          "UMLS:C0238052",
          "icd11.foundation:1556875179"
        ],
        "synonyms": [
          "CTX",
          "CTx",
          "cerebrotendinous xanthomatosis",
          "cholestanol storage disease",
          "sterol 27-hydroxylase deficiency",
          "cerebral cholesterinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008948"
    },
    {
      "id": 11370,
      "label": "familial isolated deficiency of vitamin E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7182,
        19712,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090028",
          "GARD:0008595",
          "ICD9:269.1",
          "ICD9:334.3",
          "MEDGEN:341248",
          "MESH:C535393",
          "MedDRA:10047631",
          "NANDO:1200050",
          "NORD:817",
          "OMIM:277460",
          "Orphanet:96",
          "SCTID:702442008",
          "UMLS:C1848533"
        ],
        "synonyms": [
          "AVED",
          "Ataxia with Vitamin E Deficiency",
          "Friedreich-like ataxia",
          "ataxia with isolated vitamin E deficiency",
          "familial isolated deficiency of vitamin type E",
          "familial isolated vitamin E deficiency",
          "isolated vitamin E deficiency",
          "Friedreich-like ataxia with selective vitamin E deficiency",
          "VED",
          "ataxia with vitamin E deficiency",
          "ataxia, Friedreich-like, with selective vitamin E deficiency",
          "vitamin E, familial isolated deficiency OF"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010188"
    },
    {
      "id": 17098,
      "label": "autosomal recessive ataxia due to PEX10 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19712
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020666",
          "MEDGEN:1843173",
          "Orphanet:247815",
          "UMLS:C5679614"
        ],
        "synonyms": [
          "mild peroxismal disorder due to PEX10 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016614"
    },
    {
      "id": 18279,
      "label": "autosomal recessive cerebellar ataxia with late-onset spasticity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19116,
        19712
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021525",
          "MEDGEN:1635411",
          "Orphanet:352641",
          "SCTID:763348005",
          "UMLS:C4706412"
        ],
        "synonyms": [
          "autosomal recessive cerebellar ataxia due to GBA2 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018129"
    },
    {
      "id": 18327,
      "label": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19084,
        19712
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018189"
    },
    {
      "id": 19534,
      "label": "recessive mitochondrial ataxia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17232,
        19712
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019251",
          "MEDGEN:1683676",
          "Orphanet:94125",
          "UMLS:C4760799"
        ],
        "synonyms": [
          "MIRAS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019791"
    }
  ],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}