{
  "id": 17399,
  "label": "neuroacanthocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016987",
  "properties": {
    "xrefs": [
      "DOID:0050765",
      "GARD:0010902",
      "MESH:D054546",
      "NANDO:1200013",
      "NCIT:C84926",
      "NORD:1501",
      "Orphanet:263440",
      "icd11.foundation:1012724153"
    ],
    "synonyms": [
      "neuroacanthocytosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2754,
        16360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020029",
          "ICD9:333.99",
          "MEDGEN:777988",
          "MESH:C580174",
          "Orphanet:158266",
          "SCTID:702376003",
          "UMLS:C3711380"
        ],
        "synonyms": [
          "Huntington disease phenocopy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 20,
      "reference_id": "MONDO:0015548"
    }
  ],
  "children": [
    {
      "id": 9969,
      "label": "VPS13A-related neurodegenerative disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17399,
        19129,
        19748,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050766",
          "GARD:0003956",
          "ICD9:333.0",
          "MEDGEN:98277",
          "NANDO:1200014",
          "OMIM:200150",
          "Orphanet:2388",
          "SCTID:66881004",
          "UMLS:C0393576"
        ],
        "synonyms": [
          "CHAC",
          "Chac",
          "Levine-Critchley syndrome",
          "VPS13A disease",
          "chorea-acanthocytosis",
          "choreoacanthocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008695"
    },
    {
      "id": 18867,
      "label": "XK-related neurodegenerative disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112107",
          "GARD:0010731",
          "ICD9:289.89",
          "MEDGEN:140765",
          "MESH:C564038",
          "NANDO:1200015",
          "OMIM:300842",
          "Orphanet:59306",
          "SCTID:234411007",
          "UMLS:C0398568",
          "icd11.foundation:1749275115"
        ],
        "synonyms": [
          "MLS",
          "McLeod neuroacanthocytosis syndrome",
          "McLeod syndrome",
          "X-linked McLeod syndrome",
          "XK disease",
          "MCLDS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018945"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome"
    }
  ]
}