{
  "id": 12251,
  "label": "Sheldon-hall syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011128",
  "properties": {
    "xrefs": [
      "DOID:0111599",
      "GARD:0016556",
      "MEDGEN:320374",
      "Orphanet:1147",
      "UMLS:C1834523",
      "icd11.foundation:1206883656"
    ],
    "synonyms": [
      "DA2B",
      "Freeman-Sheldon syndrome variant",
      "Sheldon-Hall syndrome",
      "arthrogryposis, distal, type 2B",
      "distal arthrogryposis type 2B",
      "Freeman Sheldon syndrome, variant",
      "Freeman Sheldon variant",
      "arthrogryposis multiplex congenita distal type 2B",
      "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities",
      "arthrogryposis multiplex congenita, distal, type 2B",
      "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 20215,
      "label": "distal arthrogryposis type 2B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        12251
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111600",
          "GARD:0009909",
          "MEDGEN:1676961",
          "OMIM:601680",
          "UMLS:C5193014"
        ],
        "synonyms": [
          "DA2B1",
          "arthrogryposis, distal, type 2B1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020820"
    },
    {
      "id": 22409,
      "label": "arthrogryposis, distal, type 2B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        12251
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111601",
          "GARD:0016351",
          "MEDGEN:1674500",
          "OMIM:618435",
          "UMLS:C5193097"
        ],
        "synonyms": [
          "DA2B2",
          "arthrogryposis, distal, type 2B2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032750"
    },
    {
      "id": 22410,
      "label": "arthrogryposis, distal, type 2B3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        12251
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111602",
          "GARD:0025733",
          "MEDGEN:1676839",
          "OMIM:618436",
          "UMLS:C5193098"
        ],
        "synonyms": [
          "DA2B3",
          "arthrogryposis, distal, type 2B3",
          "arthrogryposis, distal, type 2B3 (Sheldon-Hall)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032751"
    }
  ],
  "roots": [
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}