{
  "id": 16703,
  "label": "juvenile hyaline fibromatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016071",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4409,
      "label": "dermis tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4599,
        20387
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2438",
          "GARD:0023112",
          "MEDGEN:91075",
          "NCIT:C4475",
          "UMLS:C0346041"
        ],
        "synonyms": [
          "dermal neoplasm",
          "dermal tumor",
          "dermal tumour",
          "dermis neoplasm",
          "dermis neoplasm (disease)",
          "dermis tumor",
          "neoplasm of dermis",
          "neoplasm of the dermis",
          "tumor of dermis",
          "tumor of the dermis",
          "tumour of the dermis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign, intermediate, or malignant neoplasm that arises from the dermis."
      },
      "child_count": 16,
      "reference_id": "MONDO:0002300"
    },
    {
      "id": 7941,
      "label": "soft tissue neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000541",
          "MEDGEN:11495",
          "NCIT:C3377",
          "ONCOTREE:SOFT_TISSUE",
          "SCTID:387837005",
          "UMLS:C0037579"
        ],
        "synonyms": [
          "neoplasm of soft tissue",
          "neoplasm of the soft tissue",
          "soft tissue neoplasm",
          "soft tissue tumor",
          "soft tissue tumors",
          "soft tissue tumour",
          "soft tissue tumours",
          "tumor of soft tissue",
          "tumor of the soft tissue",
          "tumour of soft tissue",
          "tumour of the soft tissue",
          "SOFT_TISSUE"
        ],
        "definition": "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."
      },
      "child_count": 18,
      "reference_id": "MONDO:0006424"
    },
    {
      "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"
    },
    {
      "id": 18958,
      "label": "bone neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061,
        20678
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003820",
          "GARD:0018892",
          "ICD10CM:C40-C41",
          "MEDGEN:488993",
          "NCIT:C9343",
          "ONCOTREE:BONE",
          "Orphanet:68411",
          "UMLS:C2732838"
        ],
        "synonyms": [
          "bone neoplasm",
          "bone neoplasms",
          "bone tissue neoplasm",
          "bone tissue tumor",
          "bone tissue tumour",
          "bone tumor",
          "bone tumors",
          "bone tumour",
          "bone tumours",
          "neoplasm of bone",
          "neoplasm of bone tissue",
          "neoplasm of the bone",
          "osseous neoplasm",
          "osseous tumor",
          "osseous tumour",
          "tumor of bone",
          "tumor of bone tissue",
          "tumor of the bone",
          "tumour of bone",
          "tumour of bone tissue",
          "tumour of the bone",
          "primary bone cancer",
          "primary malignant neoplasm of bone",
          "rare bone tumor",
          "rare bone tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage."
      },
      "child_count": 40,
      "reference_id": "MONDO:0019060"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4409,
      "label": "dermis tumor"
    },
    {
      "id": 7941,
      "label": "soft tissue neoplasm"
    },
    {
      "id": 10472,
      "label": "hyaline fibromatosis syndrome"
    },
    {
      "id": 18958,
      "label": "bone neoplasm"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}