{
  "id": 5100,
  "label": "striatonigral degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003122",
  "properties": {
    "xrefs": [
      "DOID:4751",
      "GARD:0023374",
      "ICD10CM:G23.2",
      "ICD9:333.0",
      "MEDGEN:124366",
      "MESH:D020955",
      "NCIT:C125695",
      "OMIMPS:271930",
      "SCTID:29618004",
      "UMLS:C0270733",
      "icd11.foundation:195535779"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 9146,
      "label": "multiple system atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2963,
        7073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4752",
          "EFO:1001050",
          "GARD:0007079",
          "MEDGEN:98276",
          "MESH:D019578",
          "MedDRA:10064060",
          "NANDO:1200034",
          "NCIT:C84909",
          "NORD:1472",
          "Orphanet:102",
          "UMLS:C0393571",
          "icd11.foundation:1890931931"
        ],
        "synonyms": [
          "MSA",
          "Shy-Drager syndrome",
          "multisystem atrophy",
          "Shy-dragger syndrome (formerly)",
          "autonomic failure, Pure",
          "hypotension, orthostatic",
          "susceptibility to multiple system atrophy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007803"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 2770,
      "label": "striatal degeneration, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5100
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017146",
          "MEDGEN:322971",
          "MESH:C563783",
          "OMIMPS:609161",
          "Orphanet:228169",
          "UMLS:C1836694"
        ],
        "synonyms": [
          "ADSD",
          "autosomal dominant striatal neurodegeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000211"
    },
    {
      "id": 11268,
      "label": "familial infantile bilateral striatal necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5100,
        16334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017141",
          "MEDGEN:1672478",
          "OMIM:271930",
          "Orphanet:225154",
          "UMLS:C4087174",
          "icd11.foundation:1873983370"
        ],
        "synonyms": [
          "familial IBSN",
          "familial infantile striatonigral degeneration",
          "familial infantile striatonigral necrosis",
          "hereditary infantile bilateral striatal necrosis",
          "FBSN",
          "SNDI",
          "bilateral striatal Necrosis, infantile",
          "familial bilateral striatal necrosis",
          "infantile bilateral striatal necrosis",
          "striatal degeneration, familial",
          "striatonigral degeneration, infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis."
      },
      "child_count": 3,
      "reference_id": "MONDO:0010080"
    },
    {
      "id": 15870,
      "label": "striatonigral degeneration, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5100,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017918",
          "MEDGEN:934710",
          "OMIM:617054",
          "Orphanet:497906",
          "UMLS:C4310743"
        ],
        "synonyms": [
          "Lenk-Ploski syndrome",
          "SNDC",
          "childhood-onset basal ganglia degeneration syndrome",
          "striatonigral Degeneration, childhood-onset",
          "striatonigral degeneration, childhood-onset; SNDC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014889"
    }
  ],
  "roots": [
    {
      "id": 9146,
      "label": "multiple system atrophy"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}