{
  "id": 9721,
  "label": "Shprintzen-Goldberg syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008426",
  "properties": {
    "xrefs": [
      "GARD:0004861",
      "MEDGEN:231160",
      "NCIT:C124840",
      "NORD:1908",
      "OMIM:182212",
      "Orphanet:2462",
      "SCTID:719069008",
      "UMLS:C1321551"
    ],
    "synonyms": [
      "Marfanoid craniosynostosis syndrome",
      "SGS",
      "Shprintzen Goldberg Syndrome",
      "Shprintzen-Goldberg syndrome",
      "Marfanoid disorder with craniosynostosis type 1",
      "Marfanoid disorder with craniosynostosis, type 1",
      "Marfanoid-craniosynostosis syndrome",
      "Shprintzen-Goldberg craniosynostosis syndrome",
      "Shprintzen-Goldberg marfanoid syndrome",
      "craniosynostosis with arachnodactyly and abdominal hernias"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021129",
          "MEDGEN:1842966",
          "Orphanet:284993",
          "UMLS:C5681015"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017310"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder"
    }
  ]
}