{
  "id": 8756,
  "label": "congenital contractural arachnodactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007363",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 10051,
      "label": "arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003857",
          "MEDGEN:2455",
          "MESH:D001176",
          "NCIT:C84572",
          "UMLS:C0003886"
        ],
        "synonyms": [
          "Arthrogryposes, congenital multiple",
          "congenital multiple Arthrogryposes",
          "congenital multiple arthrogryposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth."
      },
      "child_count": 10,
      "reference_id": "MONDO:0008779"
    },
    {
      "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"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5798,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050646",
          "GARD:0000786",
          "MEDGEN:120512",
          "OMIMPS:108120",
          "Orphanet:97120",
          "SCTID:24269006",
          "UMLS:C0265213",
          "icd11.foundation:1265239690"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet."
      },
      "child_count": 69,
      "reference_id": "MONDO:0019942"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10051,
      "label": "arthrogryposis"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}