{
  "id": 8463,
  "label": "Acrodysostosis 1 with or without hormone resistance",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007044",
  "properties": {
    "xrefs": [
      "GARD:0015030",
      "MEDGEN:477858",
      "NCIT:C136464",
      "OMIM:101800",
      "UMLS:C3276228"
    ],
    "synonyms": [
      "ADOHR",
      "Acrodysostosis 1",
      "Acrodysostosis 1 with or without hormone resistance",
      "Acrodysostosis 1, with or without hormone resistance",
      "ACRDYS1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19540,
      "label": "acrodysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16319,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14669",
          "GARD:0005724",
          "ICD9:756.59",
          "MEDGEN:113097",
          "MESH:C538179",
          "NORD:722",
          "OMIMPS:101800",
          "Orphanet:950",
          "SCTID:66758006",
          "UMLS:C0220659",
          "icd11.foundation:477546932"
        ],
        "synonyms": [
          "Arkless-Graham syndrome",
          "Maroteaux-Malamut syndrome",
          "acrodysplasia",
          "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome",
          "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019797"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19540,
      "label": "acrodysostosis"
    }
  ]
}