{
  "id": 17630,
  "label": "Marfan and Marfan-related disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017310",
  "properties": {
    "xrefs": [
      "GARD:0021129",
      "MEDGEN:1842966",
      "Orphanet:284993",
      "UMLS:C5681015"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8756,
      "label": "congenital contractural arachnodactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        10051,
        17630,
        19660
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111595",
          "GARD:0005899",
          "ICD9:759.89",
          "MEDGEN:67391",
          "MESH:C536211",
          "NANDO:2201026",
          "NCIT:C129865",
          "NORD:844",
          "OMIM:121050",
          "Orphanet:115",
          "SCTID:205821003",
          "UMLS:C0220668",
          "icd11.foundation:1376425921"
        ],
        "synonyms": [
          "Beals syndrome",
          "Beals-Hecht syndrome",
          "CCA",
          "CCA syndrome",
          "distal arthrogryposis type 9",
          "DA9",
          "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis",
          "arachnodactyly, contractural Beals type",
          "arthrogryposis, distal, type 9",
          "contractural arachnodactyly, congenital",
          "contractures, multiple with arachnodactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007363"
    },
    {
      "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"
    },
    {
      "id": 9721,
      "label": "Shprintzen-Goldberg syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16201,
        17630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004861",
          "MEDGEN:231160",
          "NCIT:C124840",
          "NORD:1908",
          "OMIM:182212",
          "Orphanet:2462",
          "SCTID:719069008",
          "UMLS:C1321551"
        ],
        "synonyms": [
          "Marfanoid craniosynostosis syndrome",
          "SGS",
          "Shprintzen Goldberg Syndrome",
          "Shprintzen-Goldberg syndrome",
          "Marfanoid disorder with craniosynostosis type 1",
          "Marfanoid disorder with craniosynostosis, type 1",
          "Marfanoid-craniosynostosis syndrome",
          "Shprintzen-Goldberg craniosynostosis syndrome",
          "Shprintzen-Goldberg marfanoid syndrome",
          "craniosynostosis with arachnodactyly and abdominal hernias"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008426"
    },
    {
      "id": 18876,
      "label": "Loeys-Dietz syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        7065,
        17630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050466",
          "GARD:0010788",
          "ICD9:759.89",
          "MEDGEN:395827",
          "MESH:D055947",
          "NANDO:2200969",
          "NCIT:C75006",
          "NORD:91173",
          "OMIMPS:609192",
          "Orphanet:60030",
          "SCTID:446263001",
          "UMLS:C2697932"
        ],
        "synonyms": [
          "Loeys-Dietz syndrome",
          "aortic aneurysm syndrome due to TGF-beta receptors anomalies",
          "aortic aneurysm syndrome, Loeys-Dietz type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018954"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}