{
  "id": 10472,
  "label": "hyaline fibromatosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009229",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    }
  ],
  "children": [
    {
      "id": 16703,
      "label": "juvenile hyaline fibromatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4409,
        7941,
        10472,
        18958,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016583",
          "ICD9:733.29",
          "MEDGEN:411197",
          "NCIT:C98297",
          "Orphanet:2028",
          "SCTID:238861002",
          "UMLS:C2745948",
          "icd11.foundation:1890146024"
        ],
        "synonyms": [
          "Molluscum fibrosum",
          "Murray-Puretic-Drescher syndrome",
          "Puretic syndrome",
          "mesenchymal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016071"
    },
    {
      "id": 16876,
      "label": "infantile systemic hyalinosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10472
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016331"
    }
  ],
  "roots": [
    {
      "id": 19478,
      "label": "primary osteolysis"
    }
  ]
}