{
  "id": 12394,
  "label": "Muenke syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011274",
  "properties": {
    "xrefs": [
      "DOID:0060703",
      "GARD:0007097",
      "MEDGEN:355217",
      "MESH:C537369",
      "NCIT:C84904",
      "OMIM:602849",
      "Orphanet:1535",
      "Orphanet:53271",
      "SCTID:440350001",
      "SCTID:720814001",
      "UMLS:C1864436",
      "icd11.foundation:1860572017"
    ],
    "synonyms": [
      "FGFR3-related craniosynostosis",
      "MNKES",
      "Muenke syndrome",
      "craniosynostosis - dysmorphism - brachydactyly",
      "craniosynostosis brachydactyly",
      "craniosynostosis with facial dysmorphism and brachydactyly syndrome",
      "craniosynostosis-dysmorphism-brachydactyly syndrome",
      "glass-chapman-hockley syndrome",
      "syndrome of coronal craniosynostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    }
  ]
}