{
  "id": 19539,
  "label": "acrocephalosyndactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019796",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 2717,
      "label": "acrocephalopolysyndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19539
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022707",
          "MEDGEN:673840",
          "SCTID:205260006",
          "UMLS:C0687154"
        ],
        "synonyms": [
          "ACPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A common presentation of craniosynostosis and polysyndactyly."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000078"
    },
    {
      "id": 8460,
      "label": "Apert syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19539
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0007041"
    },
    {
      "id": 8461,
      "label": "Saethre-Chotzen syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19539
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007042"
    },
    {
      "id": 8791,
      "label": "Jackson-Weiss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19539
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111337",
          "GARD:0006796",
          "ICD9:759.89",
          "MEDGEN:208653",
          "MESH:C537559",
          "NCIT:C123814",
          "NORD:1306",
          "OMIM:123150",
          "Orphanet:1540",
          "SCTID:709105005",
          "UMLS:C0795998"
        ],
        "synonyms": [
          "JWS",
          "Jackson-Weiss syndrome",
          "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
          "craniosynostosis, midfacial hypoplasia, and foot abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007400"
    }
  ],
  "roots": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}