{
  "id": 22409,
  "label": "arthrogryposis, distal, type 2B2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032750",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 12251,
      "label": "Sheldon-hall syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19660
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011128"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 12251,
      "label": "Sheldon-hall syndrome"
    }
  ]
}