{
  "id": 11378,
  "label": "whistling face syndrome, recessive form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010197",
  "properties": {
    "xrefs": [
      "DOID:0111606",
      "GARD:0010024",
      "MEDGEN:376364",
      "MESH:C536699",
      "OMIM:277720",
      "UMLS:C1848470"
    ],
    "synonyms": [
      "whistling face syndrome, recessive form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9951,
      "label": "Freeman-Sheldon syndrome"
    }
  ]
}