{
  "id": 6827,
  "label": "systemic sclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005100",
  "properties": {
    "xrefs": [
      "DOID:418",
      "EFO:0000717",
      "GARD:0009748",
      "ICD10CM:M34",
      "ICD10WHO:M34",
      "ICD9:710.1",
      "MEDGEN:19897",
      "MESH:D012595",
      "MedDRA:10042953",
      "NANDO:1200277",
      "NANDO:2200429",
      "NCIT:C72070",
      "NORD:2007",
      "Orphanet:90291",
      "SCTID:89155008",
      "UMLS:C0036421",
      "icd11.foundation:1084365812"
    ],
    "synonyms": [
      "Scleroderma",
      "PSS (progressive systemic sclerosis)",
      "SSc",
      "SSc, diffuse sclerosis",
      "Scleroderma (& [systemic sclerosis])",
      "Scleroderma, diffuse",
      "Scleroderma, systemic",
      "Systemic Scleroderma",
      "diffuse Scleroderma",
      "diffuse sclerosis",
      "systemic Scleroderma",
      "systemic scleroderma",
      "systemic sclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 6820,
      "label": "skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:37",
          "EFO:0000701",
          "ICD9:702",
          "ICD9:702.8",
          "ICD9:709.8",
          "MEDGEN:20777",
          "MESH:D012871",
          "NANDO:2100281",
          "NCIT:C3371",
          "SCTID:95320005",
          "UMLS:C0037274"
        ],
        "synonyms": [
          "cutaneous disorder",
          "disease of zone of skin",
          "disease or disorder of zone of skin",
          "disorder of skin",
          "disorder of zone of skin",
          "skin diseases and manifestations",
          "skin disorder",
          "zone of skin disease",
          "zone of skin disease or disorder",
          "dermatosis",
          "genodermatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005093"
    },
    {
      "id": 19180,
      "label": "scleroderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7203,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:419",
          "EFO:1001993",
          "GARD:0018705",
          "HP:0100324",
          "MEDGEN:3770",
          "MedDRA:10039710",
          "NCIT:C26746",
          "Orphanet:801",
          "UMLS:C0011644"
        ],
        "synonyms": [
          "scleroderma",
          "scleroderma (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019340"
    }
  ],
  "children": [
    {
      "id": 4194,
      "label": "pulmonary systemic sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6827,
        6971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1578",
          "GARD:0023060",
          "ICD9:517.2",
          "MEDGEN:573414",
          "SCTID:196133001",
          "UMLS:C0339904"
        ],
        "synonyms": [
          "lung involvement in systemic sclerosis",
          "scleroderma lung disease",
          "scleroderma of lung"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0002047"
    },
    {
      "id": 6755,
      "label": "diffuse scleroderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1580",
          "EFO:0000404",
          "GARD:0007727",
          "MEDGEN:219839",
          "MESH:D045743",
          "UMLS:C1258104"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005019"
    },
    {
      "id": 9713,
      "label": "scleroderma, familial progressive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024620",
          "MEDGEN:356661",
          "OMIM:181750",
          "UMLS:C1866983"
        ],
        "synonyms": [
          "scleroderma, familial progressive",
          "Crest syndrome",
          "systemic sclerosis, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008418"
    },
    {
      "id": 16890,
      "label": "diffuse cutaneous systemic sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009751",
          "NANDO:1201010",
          "NCIT:C116791",
          "Orphanet:220393"
        ],
        "synonyms": [
          "dSSc",
          "diffuse cutaneous systemic scleroderma",
          "progressive cutaneous systemic scleroderma",
          "progressive cutaneous systemic sclerosis",
          "DcSSc"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016356"
    },
    {
      "id": 16892,
      "label": "limited cutaneous systemic sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1577",
          "GARD:0001053",
          "MEDGEN:148187",
          "MESH:D045745",
          "NANDO:1201011",
          "Orphanet:220402",
          "SCTID:298285004",
          "SCTID:299276009",
          "UMLS:C0748540"
        ],
        "synonyms": [
          "limited cutaneous systemic scleroderma",
          "limited scleroderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016358"
    },
    {
      "id": 16893,
      "label": "limited systemic sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009749",
          "MEDGEN:220934",
          "NCIT:C116789",
          "Orphanet:220407",
          "SCTID:128461001",
          "UMLS:C1290138",
          "icd11.foundation:187455179"
        ],
        "synonyms": [
          "SSC without skin involvement",
          "systemic sclerosis sine scleroderma",
          "systemic sclerosis without skin involvement",
          "Scleroderma, sine",
          "progressive systemic sclerosis sine scleroderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016359"
    }
  ],
  "roots": [
    {
      "id": 6820,
      "label": "skin disorder"
    },
    {
      "id": 19180,
      "label": "scleroderma"
    }
  ]
}