{
  "id": 18927,
  "label": "Carpenter syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019012",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    }
  ],
  "children": [
    {
      "id": 9983,
      "label": "RAB23-related Carpenter syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061098",
          "GARD:0015128",
          "MEDGEN:1644017",
          "OMIM:201000",
          "SCTID:205813009",
          "UMLS:C4551510"
        ],
        "synonyms": [
          "ACPS 2",
          "Carpenter syndrome",
          "acrocephalopolysyndactyly type 2",
          "Carpenter syndrome 1",
          "Carpenter syndrome caused by mutation in RAB23",
          "Carpenter syndrome type 1",
          "RAB23 Carpenter syndrome",
          "RAB23-related Carpenter syndrome",
          "CARPENTER syndrome 1",
          "CRPT1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008710"
    },
    {
      "id": 15008,
      "label": "MEGF8-related Carpenter syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061099",
          "GARD:0015889",
          "MEDGEN:767161",
          "OMIM:614976",
          "UMLS:C3554247"
        ],
        "synonyms": [
          "Carpenter syndrome 2",
          "Carpenter syndrome caused by mutation in MEGF8",
          "Carpenter syndrome type 2",
          "MEGF8 Carpenter syndrome",
          "CARPENTER syndrome 2",
          "CRPT2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013998"
    }
  ],
  "roots": [
    {
      "id": 2717,
      "label": "acrocephalopolysyndactyly"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    }
  ]
}