{
  "id": 24162,
  "label": "Schwartz-Jampel syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100435",
  "properties": {
    "xrefs": [
      "DOID:0090005",
      "GARD:0026212",
      "MEDGEN:1647990",
      "OMIM:255800",
      "UMLS:C4551479"
    ],
    "synonyms": [
      "SJA syndrome",
      "SJS1",
      "Schwartz-Jampel syndrome type 1",
      "Chondrodystrophic myotonia",
      "Schwartz-Jampel syndrome 1",
      "Schwartz-Jampel syndrome, type 1"
    ],
    "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10930,
      "label": "Schwartz-Jampel syndrome"
    }
  ]
}