{
  "id": 10788,
  "label": "Marinesco-Sjogren syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009567",
  "properties": {
    "xrefs": [
      "DOID:0080195",
      "GARD:0008341",
      "ICD9:742.4",
      "MEDGEN:6222",
      "NANDO:1200485",
      "NORD:1406",
      "OMIM:248800",
      "Orphanet:559",
      "SCTID:80734006",
      "UMLS:C0024814"
    ],
    "synonyms": [
      "MSS",
      "Marinesco-Sjogren syndrome",
      "Marshall Smith Syndrome",
      "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism",
      "Marinesco-Sjogren syndrome-myopathy",
      "Marinesco-Sjogren-Garland syndrome",
      "Marinesco-Sjögren syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development."
  },
  "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": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019415",
          "MEDGEN:1842627",
          "Orphanet:98098",
          "UMLS:C5681515"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020046"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19713,
      "label": "autosomal recessive degenerative and progressive cerebellar ataxia"
    }
  ]
}