{
  "id": 8461,
  "label": "Saethre-Chotzen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007042",
  "properties": {
    "xrefs": [
      "DOID:14768",
      "GARD:0007598",
      "MEDGEN:64221",
      "NANDO:2200848",
      "NCIT:C75034",
      "NORD:1686",
      "OMIM:101400",
      "Orphanet:794",
      "SCTID:83015004",
      "UMLS:C0175699",
      "icd11.foundation:2109857109"
    ],
    "synonyms": [
      "ACS3",
      "SCS",
      "Saethre Chotzen Syndrome",
      "Saethre-Chotzen syndrome",
      "Saethre-Chotzen syndrome with or without eyelid anomalies",
      "acrocephalosyndactyly type 3",
      "type III Acrocephalosyndactyly",
      "ACS 3",
      "Chotzen syndrome",
      "Saethre-Chotzen syndrome with eyelid anomalies",
      "acrocephalo-syndactyly, type 3",
      "acrocephalosyndactyly, type 3",
      "acrocephaly, skull asymmetry, and mild syndactyly",
      "blepharophimosis, epicanthus inversus, and ptosis 3",
      "blepharophimosis, epicanthus inversus, and ptosis 3, formerly",
      "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19539,
      "label": "acrocephalosyndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16201,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12960",
          "GARD:0025147",
          "ICD9:755.55",
          "MEDGEN:267602",
          "MedDRA:10000590",
          "NCIT:C34348",
          "Orphanet:946",
          "SCTID:268262006",
          "UMLS:C1510455"
        ],
        "synonyms": [
          "ACS",
          "acrocephalosyndactylia",
          "acrocephalosyndactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019796"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19539,
      "label": "acrocephalosyndactyly"
    }
  ]
}