{
  "id": 17629,
  "label": "neonatal Marfan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017309",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 9277,
      "label": "Marfan syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        6893,
        17630
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007947"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 9277,
      "label": "Marfan syndrome"
    }
  ]
}