{
  "id": 8476,
  "label": "acroosteolysis dominant type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007057",
  "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."
  },
  "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": 5126,
      "label": "disappearing bone disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4837",
          "ICD9:733.09",
          "MEDGEN:45247",
          "NANDO:1200878",
          "NANDO:1200880",
          "SCTID:240161003",
          "UMLS:C0029436"
        ],
        "synonyms": [
          "Gorham's disease",
          "massive osteolysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003157"
    },
    {
      "id": 7203,
      "label": "rheumatic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1575",
          "EFO:0005755",
          "ICD9:729.0",
          "MEDGEN:3157",
          "MESH:D012216",
          "NANDO:2100151",
          "NANDO:2100152",
          "NCIT:C27204",
          "SCTID:396332003",
          "UMLS:C0009326",
          "Wikipedia:Rheumatism"
        ],
        "synonyms": [
          "rheumatic disease",
          "rheumatologic disorder",
          "collagen disease",
          "collagen vascular disease",
          "connective tissue disease",
          "disease, rheumatic",
          "diseases, rheumatic",
          "enthesopathies",
          "enthesopathy",
          "inflammatory rheumatism",
          "musculoskeletal pain disorder",
          "rheumatism"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005554"
    },
    {
      "id": 8475,
      "label": "acroosteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19478
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0007056"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 5126,
      "label": "disappearing bone disease"
    },
    {
      "id": 7203,
      "label": "rheumatic disorder"
    },
    {
      "id": 8475,
      "label": "acroosteolysis"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}