{
  "id": 10712,
  "label": "autosomal recessive Kenny-Caffey syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009486",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17018,
      "label": "Kenny-Caffey syndrome"
    }
  ]
}