{
  "id": 16876,
  "label": "infantile systemic hyalinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016331",
  "properties": {
    "xrefs": [
      "GARD:0006807",
      "MEDGEN:1803732",
      "OMIM:236490",
      "Orphanet:2176",
      "SCTID:238867003",
      "UMLS:C5574678",
      "icd11.foundation:2089325724"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10472,
      "label": "hyaline fibromatosis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111669",
          "GARD:0022029",
          "MEDGEN:1805033",
          "OMIM:228600",
          "Orphanet:498474",
          "UMLS:C5574677"
        ],
        "synonyms": [
          "hyaline fibromatosis syndrome",
          "HFS",
          "hyalinosis, systemic",
          "infantile systemic hyalinosis (former subtype)",
          "inherited systemic hyalinosis",
          "juvenile hyaline fibromatosis (former subtype)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0009229"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10472,
      "label": "hyaline fibromatosis syndrome"
    }
  ]
}