{
  "id": 11268,
  "label": "familial infantile bilateral striatal necrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010080",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5100,
      "label": "striatonigral degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9146,
        18954,
        21292
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0003122"
    },
    {
      "id": 16334,
      "label": "infantile bilateral striatal necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005040",
          "MEDGEN:167090",
          "NANDO:2100242",
          "NANDO:2200888",
          "Orphanet:1576",
          "SCTID:718174008",
          "UMLS:C0795996",
          "icd11.foundation:1947032348"
        ],
        "synonyms": [
          "IBSN",
          "infantile bilateral striatal necrosis",
          "infantile striatonigral degeneration",
          "infantile striatonigral necrosis",
          "SNDI",
          "striatal degeneration familial",
          "striatonigral degeneration infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015518"
    }
  ],
  "children": [
    {
      "id": 11912,
      "label": "striatonigral degeneration, infantile, mitochondrial",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11268
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018315",
          "MEDGEN:374113",
          "MESH:C564025",
          "OMIM:500003",
          "UMLS:C1839022"
        ],
        "synonyms": [
          "striatonigral degeneration, infantile, mitochondrial",
          "bilateral striatal Necrosis, infantile, mitochondrial",
          "infantile bilateral striatal Necrosis, mitochondrial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010774"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5100,
      "label": "striatonigral degeneration"
    },
    {
      "id": 16334,
      "label": "infantile bilateral striatal necrosis"
    }
  ]
}