{
  "id": 10051,
  "label": "arthrogryposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008779",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "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": 9951,
      "label": "Freeman-Sheldon syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        10051,
        16089,
        19660
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111604",
          "DOID:0111605",
          "GARD:0006466",
          "MEDGEN:120516",
          "MESH:C535483",
          "NCIT:C98931",
          "NORD:1161",
          "OMIM:193700",
          "Orphanet:2053",
          "SCTID:52616002",
          "UMLS:C0265224",
          "icd11.foundation:1314169421"
        ],
        "synonyms": [
          "Craniocarpotarsal dysplasia",
          "Craniocarpotarsal dystrophy",
          "Freeman Sheldon Syndrome",
          "Freeman Sheldon syndrome",
          "Freeman-Sheldon syndrome",
          "arthrogryposis, distal, type 2A (Freeman-Sheldon)",
          "cranio-carpo-tarsal syndrome",
          "craniocarpotarsal dysplasia",
          "craniocarpotarsal dystrophy",
          "distal arthrogryposis type 2A",
          "whistling face syndrome",
          "whistling face-windmill vane hand syndrome",
          "whistling-face syndrome",
          "windmill-vane-hand syndrome",
          "DA2A",
          "FSS",
          "arthrogryposis distal type 2A",
          "arthrogryposis, distal, type 2A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis."
      },
      "child_count": 5,
      "reference_id": "MONDO:0008675"
    },
    {
      "id": 20806,
      "label": "boylan dew greco syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4626,
        10051,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000954",
          "MEDGEN:419407",
          "MESH:C537083",
          "UMLS:C2931419"
        ],
        "synonyms": [
          "congenital hypomyelination neuropathy with arthrogryposis multiplex congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022025"
    },
    {
      "id": 21087,
      "label": "distal arthrogryposis Moore weaver type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        10051,
        19660
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001884",
          "MEDGEN:419054",
          "MESH:C536814",
          "UMLS:C2931342"
        ],
        "synonyms": [
          "Moore Weaver syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022998"
    },
    {
      "id": 23132,
      "label": "massa casaer ceulemans syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10051,
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003407",
          "MEDGEN:418986",
          "MESH:C536031",
          "UMLS:C2931090"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita associated with lissencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043123"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}