{
  "id": 10930,
  "label": "Schwartz-Jampel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009717",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16753,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020398",
          "MEDGEN:1842752",
          "Orphanet:207101",
          "UMLS:C5680831"
        ],
        "synonyms": [
          "qualitative or quantitative defects of perlecan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016151"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [
    {
      "id": 24162,
      "label": "Schwartz-Jampel syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10930
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100435"
    },
    {
      "id": 24797,
      "label": "Stüve-Wiedemann syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10930,
        19475,
        22232
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800043"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16753,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}