{
  "id": 24797,
  "label": "Stüve-Wiedemann syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800043",
  "properties": {
    "xrefs": [
      "GARD:0005045",
      "MEDGEN:1803541",
      "MESH:C537502",
      "OMIM:601559",
      "Orphanet:3206",
      "SCTID:254097005",
      "UMLS:C5676888"
    ],
    "synonyms": [
      "STUVE-Wiedemann syndrome",
      "SWS",
      "Stuve-Wiedemann syndrome",
      "Stws",
      "Stüve-Wiedemann syndrome",
      "SJS2",
      "STWS",
      "Schwartz-Jampel syndrome neonatal",
      "Schwartz-Jampel syndrome type 2",
      "Schwartz-Jampel syndrome, neonatal",
      "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome",
      "Stüve-Wiedemann dysplasia",
      "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome",
      "neonatal Schwartz-Jampel syndrome",
      "Schwartz-Jampel syndrome, type 2",
      "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome",
      "neonatal Schwartz-Jampel syndrome type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10930,
      "label": "Schwartz-Jampel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16753,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000250",
          "ICD10CM:G71.13",
          "ICD9:759.89",
          "MEDGEN:19892",
          "NANDO:1200224",
          "NANDO:2100235",
          "NANDO:2200876",
          "NCIT:C35008",
          "NORD:1697",
          "Orphanet:800",
          "SCTID:29145002",
          "UMLS:C0036391",
          "icd11.foundation:1725668060"
        ],
        "synonyms": [
          "Aberfeld syndrome",
          "Catel-Hempel syndrome",
          "Catel-Hempel type dysostosis enchondralis metaepiphysaria",
          "Osteochondromuscular dystrophy",
          "SJS",
          "Schwartz Jampel Syndrome",
          "Schwartz-Jampel syndrome",
          "Schwartz-Jampel-Aberfeld syndrome",
          "burton skeletal dysplasia",
          "burton syndrome",
          "dysostosis enchondralis metaepiphysaria, Catel-Hempel type",
          "myotonic chondrodystrophy",
          "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies",
          "osteochondromuscular dystrophy",
          "Schwartz Jampel Aberfeld syndrome",
          "Schwartz Jampel syndrome",
          "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities",
          "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009717"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019196",
          "ICD9:756.59",
          "MEDGEN:609415",
          "Orphanet:93439",
          "SCTID:254095002",
          "UMLS:C0432238"
        ],
        "synonyms": [
          "campomelic dysplasia and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 11,
      "reference_id": "MONDO:0019698"
    },
    {
      "id": 22232,
      "label": "Stuve-Wiedemann syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:167109",
          "OMIMPS:601559",
          "UMLS:C0796176"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0031280"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10930,
      "label": "Schwartz-Jampel syndrome"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia"
    },
    {
      "id": 22232,
      "label": "Stuve-Wiedemann syndrome"
    }
  ]
}