{
  "id": 19540,
  "label": "acrodysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019797",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019980",
          "ICD10CM:Q75.4",
          "MESH:D008342",
          "MedDRA:10051456",
          "Orphanet:155899",
          "icd11.foundation:470731247"
        ],
        "synonyms": [
          "bilateral and symmetric oto-mandibular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"
      },
      "child_count": 6,
      "reference_id": "MONDO:0015483"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    }
  ],
  "children": [
    {
      "id": 8463,
      "label": "Acrodysostosis 1 with or without hormone resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19540
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007044"
    },
    {
      "id": 14836,
      "label": "acrodysostosis 2 with or without hormone resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015823",
          "MEDGEN:766164",
          "OMIM:614613",
          "UMLS:C3553250"
        ],
        "synonyms": [
          "PDE4D acrodysostosis",
          "acrodysostosis 2 with or without hormone resistance",
          "acrodysostosis 2, with or without hormone resistance",
          "acrodysostosis caused by mutation in PDE4D",
          "ACRDYS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013822"
    }
  ],
  "roots": [
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    }
  ]
}