{
  "id": 15008,
  "label": "MEGF8-related Carpenter syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013998",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18927,
      "label": "Carpenter syndrome"
    }
  ]
}