{
  "id": 9951,
  "label": "Freeman-Sheldon syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008675",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": [
    {
      "id": 11378,
      "label": "whistling face syndrome, recessive form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9951
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010197"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10051,
      "label": "arthrogryposis"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}