{
  "id": 2717,
  "label": "acrocephalopolysyndactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000078",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 8459,
      "label": "Sakati-Nyhan syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2717
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060359",
          "GARD:0000115",
          "MEDGEN:220889",
          "MESH:C537227",
          "OMIM:101120",
          "Orphanet:3128",
          "SCTID:403768004",
          "UMLS:C1275079"
        ],
        "synonyms": [
          "ACPS with leg hypoplasia",
          "Sakati-Nyhan syndrome",
          "acrocephalopolysyndactyly type 3",
          "ACPS 3",
          "ACPS3",
          "Sakati syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007040"
    },
    {
      "id": 8462,
      "label": "Pfeiffer syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2717
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14705",
          "GARD:0007380",
          "MEDGEN:67390",
          "NANDO:1200668",
          "NANDO:2200976",
          "NCIT:C99100",
          "NORD:1572",
          "OMIM:101600",
          "Orphanet:710",
          "SCTID:70410008",
          "UMLS:C0220658",
          "icd11.foundation:1075159878"
        ],
        "synonyms": [
          "ACS5",
          "Pfeiffer syndrome",
          "acrocephalosyndactyly type 5",
          "acrocephalosyndactyly type V",
          "type V Acrocephalosyndactyly",
          "ACS 5",
          "Noack syndrome",
          "Pfeiffer type acrocephalosyndactyly",
          "acrocephalosyndactyly, type 5",
          "craniofacial-skeletal-Dermatologic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
      },
      "child_count": 5,
      "reference_id": "MONDO:0007043"
    },
    {
      "id": 9984,
      "label": "Goodman syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2717,
        16088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002549",
          "MEDGEN:78551",
          "MESH:C537287",
          "OMIM:201020",
          "Orphanet:65798",
          "SCTID:720600004",
          "UMLS:C0265303"
        ],
        "synonyms": [
          "ACPS 4",
          "ACPS4",
          "Goodman syndrome",
          "acrocephalopolysyndactyly type 4",
          "Goodman camptodactyly",
          "acrocephalopolysyndactyly type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008711"
    },
    {
      "id": 18927,
      "label": "Carpenter syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2717,
        16088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060234",
          "GARD:0006003",
          "MEDGEN:226897",
          "NANDO:2200847",
          "NCIT:C98873",
          "NORD:897",
          "OMIMPS:201000",
          "Orphanet:65759",
          "SCTID:403767009",
          "UMLS:C1275078",
          "icd11.foundation:2132713612"
        ],
        "synonyms": [
          "ACPS2",
          "Carpenter 's syndrome",
          "Carpenter syndrome",
          "acrocephalopolysyndactyly type 2",
          "acrocephalopolysyndactyly type II",
          "type II Acrocephalopolysyndactyly",
          "acrocephalosyndactyly, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019012"
    }
  ],
  "roots": [
    {
      "id": 19539,
      "label": "acrocephalosyndactyly"
    }
  ]
}