{
  "id": 9277,
  "label": "Marfan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007947",
  "properties": {
    "xrefs": [
      "DOID:14323",
      "GARD:0016535",
      "ICD10CM:Q87.4",
      "ICD9:759.82",
      "MEDGEN:44287",
      "MESH:D008382",
      "MedDRA:10026829",
      "NANDO:1200644",
      "NANDO:2200968",
      "NCIT:C34807",
      "NORD:1403",
      "OMIM:154700",
      "Orphanet:284963",
      "Orphanet:558",
      "SCTID:19346006",
      "UMLS:C0024796",
      "icd11.foundation:236564145"
    ],
    "synonyms": [
      "MFS",
      "MFS1",
      "Marfan syndrome",
      "Marfan syndrome type 1",
      "Marfan syndrome, type 1",
      "Marfan's syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021129",
          "MEDGEN:1842966",
          "Orphanet:284993",
          "UMLS:C5681015"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017310"
    }
  ],
  "children": [
    {
      "id": 17629,
      "label": "neonatal Marfan syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7065,
        9277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021128",
          "MEDGEN:864491",
          "Orphanet:284979",
          "SCTID:763839005",
          "UMLS:C4016054",
          "icd11.foundation:1102890898"
        ],
        "synonyms": [
          "neonatal MFS"
        ],
        "categories": [
          {
            "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": "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017309"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder"
    }
  ]
}