{
  "id": 8865,
  "label": "autosomal dominant Kenny-Caffey syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007478",
  "properties": {
    "xrefs": [
      "DOID:0080723",
      "GARD:0000083",
      "MEDGEN:1373312",
      "NCIT:C130993",
      "OMIM:127000",
      "Orphanet:93325",
      "UMLS:C4316787"
    ],
    "synonyms": [
      "KCS2",
      "Kenny-Caffey syndrome type 2",
      "Kenny-Caffey syndrome, autosomal dominant",
      "Kenny-Caffey syndrome, type 2",
      "dwarfism, cortical thickening of tubular bones and transient hypocalcemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 17018,
      "label": "Kenny-Caffey syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080724",
          "GARD:0016594",
          "ICD9:759.89",
          "MEDGEN:75560",
          "MESH:C537020",
          "NCIT:C130991",
          "NORD:1325",
          "OMIMPS:127000",
          "Orphanet:2333",
          "SCTID:82837002",
          "UMLS:C0265291"
        ],
        "synonyms": [
          "Kenny syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016516"
    },
    {
      "id": 29335,
      "label": "FAM111A-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028174"
        ],
        "synonyms": [
          "FAM111A-related skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17018,
      "label": "Kenny-Caffey syndrome"
    },
    {
      "id": 29335,
      "label": "FAM111A-related skeletal dysplasia"
    }
  ]
}