{
  "id": 8475,
  "label": "acroosteolysis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007056",
  "properties": {
    "xrefs": [
      "GARD:0015031",
      "MEDGEN:183017",
      "MESH:D030981",
      "NCIT:C35545",
      "OMIM:102400",
      "SCTID:27201004",
      "UMLS:C0917990"
    ],
    "synonyms": [
      "acroosteolysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A condition that is characterized by degeneration of the distal phalanges."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    }
  ],
  "children": [
    {
      "id": 8476,
      "label": "acroosteolysis dominant type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        5126,
        7203,
        8475,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2736",
          "GARD:0000508",
          "ICD9:756.59",
          "MEDGEN:182961",
          "MESH:C531695",
          "MESH:C535663",
          "MESH:C537586",
          "NCIT:C84745",
          "NORD:1214",
          "OMIM:102500",
          "Orphanet:955",
          "SCTID:63122002",
          "UMLS:C0917715"
        ],
        "synonyms": [
          "Arthrodentoosteodysplasia",
          "Cheney syndrome",
          "Hajdu Cheney Syndrome",
          "Hajdu-Cheney syndrome",
          "Hajdu-Cheney syndrome-NOTCH2",
          "acrodentoosteodysplasia",
          "acroosteolysis with osteoporosis and changes in skull and mandible",
          "serpentine fibula polycystic kidney syndrome",
          "serpentine fibula-polycystic kidney syndrome",
          "serpentine fibula-polycystic kidneys syndrome",
          "HJCYS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007057"
    }
  ],
  "roots": [
    {
      "id": 19478,
      "label": "primary osteolysis"
    }
  ]
}