{
  "id": 29335,
  "label": "FAM111A-related skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060172",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8865,
      "label": "autosomal dominant Kenny-Caffey syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17018,
        29335
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007478"
    },
    {
      "id": 12336,
      "label": "osteocraniostenosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24802,
        29335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003396",
          "MEDGEN:356331",
          "MESH:C537291",
          "OMIM:602361",
          "Orphanet:2763",
          "SCTID:722109008",
          "UMLS:C1865639",
          "icd11.foundation:539409723"
        ],
        "synonyms": [
          "Osteocraniosplenic syndrome",
          "gracile bone dysplasia",
          "osteocraniostenosis",
          "GCLEB",
          "skeletal dysplasia lethal with gracile bones"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011215"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}