{
  "id": 9349,
  "label": "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008023",
  "properties": {
    "xrefs": [
      "GARD:0002417",
      "ICD9:728.2",
      "MEDGEN:137966",
      "OMIM:158500",
      "Orphanet:2579",
      "SCTID:237611007",
      "UMLS:C0342281"
    ],
    "synonyms": [
      "Furukawa-Takagi-Nakao syndrome",
      "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus",
      "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 6639,
      "label": "eye degenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9799",
          "ICD10CM:H44.5",
          "ICD9:360.2",
          "ICD9:360.20",
          "ICD9:360.29",
          "ICD9:360.4",
          "ICD9:360.40",
          "MEDGEN:509655",
          "SCTID:62585004",
          "UMLS:C0154777"
        ],
        "synonyms": [
          "degenerative disorder of eye",
          "eye neurodegenerative disease",
          "eyeball of camera-type eye neurodegenerative disease",
          "neurodegenerative disease of eyeball of camera-type eye",
          "degenerative disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eye."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004884"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6639,
      "label": "eye degenerative disorder"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}