{
  "id": 14824,
  "label": "Maffucci syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013808",
  "properties": {
    "xrefs": [
      "DOID:0060221",
      "GARD:0006958",
      "MEDGEN:7437",
      "NCIT:C3213",
      "NORD:1393",
      "OMIM:614569",
      "Orphanet:163634",
      "SCTID:46041001",
      "UMLS:C0024454",
      "icd11.foundation:548780091"
    ],
    "synonyms": [
      "Chondroplasia angiomatosis",
      "Dyschondroplasia and cavernous hemangioma",
      "Maffucci syndrome",
      "Maffucci type enchondromatosis",
      "Maffucci's anomalad",
      "chondrodysplasia with hemangioma",
      "enchondromatosis with hemangiomata",
      "hemangiomata with Dyschondroplasia",
      "Dyschondrodysplasia with hemangiomas",
      "Kast syndrome",
      "enchondromatosis with multiple cavernous hemangiomas",
      "hemangiomatosis Chondrodystrophica",
      "multiple Angiomas and Endochondromas",
      "multiple enchondromatosis, Maffucci type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4599,
      "label": "skin neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3165",
          "EFO:0004198",
          "ICD9:239.2",
          "MEDGEN:19993",
          "MESH:D012878",
          "NCIT:C3372",
          "ONCOTREE:SKIN",
          "SCTID:126488004",
          "UMLS:C0037286"
        ],
        "synonyms": [
          "neoplasm of skin",
          "neoplasm of the skin",
          "neoplasm of zone of skin",
          "skin neoplasm",
          "skin neoplasms",
          "skin tumor",
          "skin tumour",
          "tumor of skin",
          "tumor of the skin",
          "tumor of zone of skin",
          "tumour of skin",
          "tumour of the skin",
          "tumour of zone of skin",
          "zone of skin neoplasm",
          "zone of skin neoplasm (disease)",
          "zone of skin tumor",
          "zone of skin tumour",
          "skin",
          "skin benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma."
      },
      "child_count": 34,
      "reference_id": "MONDO:0002531"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 19142,
      "label": "skin vascular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9540",
          "ICD9:709.1",
          "MEDGEN:102473",
          "MESH:D017445",
          "MedDRA:10062171",
          "NCIT:C35254",
          "Orphanet:79379",
          "SCTID:11263005",
          "UMLS:C0162819"
        ],
        "synonyms": [
          "skin vascular disorder",
          "superficial vasculature disease",
          "vascular disease of the skin",
          "vascular skin disease",
          "vasculature skin disease",
          "disorder of blood vessels affecting skin",
          "vascular disorder of skin",
          "vascular disorders of skin"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease that involves the superficial vasculature."
      },
      "child_count": 40,
      "reference_id": "MONDO:0019293"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    },
    {
      "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": 21452,
      "label": "vascular bone neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18958,
        21330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025402",
          "MEDGEN:234986",
          "NCIT:C6478",
          "UMLS:C1336946"
        ],
        "synonyms": [
          "bone vascular neoplasm",
          "bone vascular tumor",
          "bone vascular tumour",
          "osseous vascular neoplasm",
          "osseous vascular tumor",
          "osseous vascular tumour",
          "vascular bone neoplasm",
          "vascular neoplasm of bone",
          "vascular neoplasm of the bone",
          "vascular tumor of bone",
          "vascular tumor of the bone",
          "vascular tumour of bone",
          "vascular tumour of the bone"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A benign, intermediate, or malignant vascular neoplasm that arises from the bone."
      },
      "child_count": 8,
      "reference_id": "MONDO:0024499"
    },
    {
      "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": 4599,
      "label": "skin neoplasm"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19142,
      "label": "skin vascular disease"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 21452,
      "label": "vascular bone neoplasm"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}