{
  "id": 8460,
  "label": "Apert syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007041",
  "properties": {
    "xrefs": [
      "GARD:0005833",
      "MEDGEN:7858",
      "MESH:D000168",
      "MedDRA:10002943",
      "NANDO:1200667",
      "NANDO:2200844",
      "NCIT:C99099",
      "NORD:793",
      "OMIM:101200",
      "Orphanet:87",
      "SCTID:205258009",
      "UMLS:C0001193",
      "icd11.foundation:1962779847"
    ],
    "synonyms": [
      "ACS1",
      "Apert syndrome",
      "acrocephalosyndactyly type 1",
      "acrocephalosyndactyly type I",
      "type I Acrocephalosyndactyly",
      "ACS 1",
      "ACS 2",
      "Apert-Crouzon disease",
      "Vogt Cephalodactyly",
      "acrocephalo-syndactyly type 1",
      "acrocephalosyndactyly, type 1",
      "acrocephalosyndactyly, type 2",
      "syndactylic oxycephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 21271,
      "label": "Maroteaux Fonfria syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003397",
          "MEDGEN:418985",
          "MESH:C536023",
          "UMLS:C2931088"
        ],
        "synonyms": [
          "apert syndrome with polydactyly of hands and feet",
          "apparent apert syndrome with polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023699"
    }
  ],
  "roots": [
    {
      "id": 19539,
      "label": "acrocephalosyndactyly"
    }
  ]
}