{
  "id": 21232,
  "label": "Kocher-debre-Semelaigne syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023558",
  "properties": {
    "xrefs": [
      "GARD:0025371",
      "MESH:C537211",
      "icd11.foundation:109007822"
    ],
    "synonyms": [
      "Kocher debre Semelaigne disease",
      "association of muscular pseudohypertrophy and hypothyroidism in children"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "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": 5798,
      "label": "muscle tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080000",
          "DOID:66",
          "ICD10CM:M60-M63",
          "MESH:D009135"
        ],
        "synonyms": [
          "disease of muscle organ",
          "disease of muscle tissue",
          "disease or disorder of muscle organ",
          "disease or disorder of muscle tissue",
          "disorder of muscle organ",
          "disorder of muscle tissue",
          "muscle organ disease",
          "muscle organ disease or disorder",
          "muscle tissue disease",
          "muscle tissue disease or disorder",
          "muscular disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the muscle tissue."
      },
      "child_count": 13,
      "reference_id": "MONDO:0003939"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7093
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050328",
          "GARD:0001487",
          "ICD9:243",
          "ICD9:269.3",
          "ICD9:759.89",
          "MEDGEN:41344",
          "MESH:D003409",
          "MedDRA:10010510",
          "NANDO:2200333",
          "NCIT:C26734",
          "Orphanet:442",
          "SCTID:190268003",
          "SCTID:217710005",
          "UMLS:C0010308",
          "icd11.foundation:602450215"
        ],
        "synonyms": [
          "congenital hypothyroidism",
          "congenital iodine deficiency syndrome",
          "congenital goiter",
          "congenital goitre",
          "congenital hypothyroidism not due to iodine deficiency",
          "cretinism",
          "fetal iodine deficiency syndrome",
          "foetal iodine deficiency syndrome",
          "infantile hypothyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A thyroid hormone deficiency present from birth."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018612"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5798,
      "label": "muscle tissue disorder"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism"
    }
  ]
}