{
  "id": 12055,
  "label": "Satoyoshi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010922",
  "properties": {
    "xrefs": [
      "GARD:0000160",
      "MEDGEN:318882",
      "MESH:C536616",
      "MedDRA:10070579",
      "OMIM:600705",
      "Orphanet:3130",
      "SCTID:763630007",
      "UMLS:C1833454"
    ],
    "synonyms": [
      "Komuragaeri disease",
      "Satoyoshi syndrome",
      "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities",
      "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities",
      "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6660,
      "label": "alopecia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:987",
          "ICD9:704.0",
          "ICD9:704.00",
          "ICD9:704.09",
          "MEDGEN:7982",
          "MESH:D000505",
          "NCIT:C50575",
          "Orphanet:79364",
          "SCTID:56317004",
          "UMLS:C0002170",
          "icd11.foundation:1313926062"
        ],
        "synonyms": [
          "alopecia",
          "hair loss",
          "loss Of hair",
          "alopecia areata"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions."
      },
      "child_count": 26,
      "reference_id": "MONDO:0004907"
    },
    {
      "id": 6756,
      "label": "intestinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5295",
          "EFO:0009431",
          "ICD9:520-579",
          "ICD9:560-569",
          "ICD9:564",
          "ICD9:564.4",
          "ICD9:569",
          "ICD9:569.4",
          "ICD9:569.49",
          "ICD9:569.89",
          "ICD9:569.9",
          "ICD9:570-579",
          "ICD9:575",
          "MEDGEN:7130",
          "MESH:D007410",
          "NCIT:C26801",
          "SCTID:85919009",
          "UMLS:C0021831"
        ],
        "synonyms": [
          "disease of intestine",
          "disease or disorder of intestine",
          "disorder of intestine",
          "intestinal disease",
          "intestinal disorder",
          "intestine disease",
          "intestine disease or disorder",
          "disease, intestinal",
          "diseases, intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine."
      },
      "child_count": 58,
      "reference_id": "MONDO:0005020"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6660,
      "label": "alopecia"
    },
    {
      "id": 6756,
      "label": "intestinal disorder"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}