{
  "id": 17018,
  "label": "Kenny-Caffey syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016516",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    }
  ],
  "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": 10712,
      "label": "autosomal recessive Kenny-Caffey syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17018
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080722",
          "GARD:0008367",
          "MEDGEN:340923",
          "MESH:C537021",
          "NCIT:C130992",
          "OMIM:244460",
          "Orphanet:93324",
          "UMLS:C1855648"
        ],
        "synonyms": [
          "Kenny-Caffey syndrome type 1",
          "Kenny-Caffey syndrome, autosomal recessive",
          "KCS1",
          "Kcs",
          "Kenny-Caffey syndrome, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009486"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}