{
  "id": 14660,
  "label": "Adams-Oliver syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013635",
  "properties": {
    "xrefs": [
      "GARD:0015775",
      "MEDGEN:481812",
      "OMIM:614219",
      "UMLS:C3280182"
    ],
    "synonyms": [
      "Adams-Oliver syndrome 2",
      "Adams-Oliver syndrome caused by mutation in DOCK6",
      "Adams-Oliver syndrome type 2",
      "DOCK6 Adams-Oliver syndrome",
      "AOS2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8453,
      "label": "Adams-Oliver syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060227",
          "GARD:0005739",
          "ICD9:759.89",
          "MEDGEN:78544",
          "MESH:C538225",
          "NORD:731",
          "OMIMPS:100300",
          "Orphanet:974",
          "SCTID:34748004",
          "UMLS:C0265268",
          "icd11.foundation:745972142"
        ],
        "synonyms": [
          "AOS",
          "congenital scalp defects with distal limb anomalies",
          "congenital scalp defects with distal limb reduction anomalies",
          "limb, scalp and skull defects",
          "limb scalp and skull defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects."
      },
      "child_count": 18,
      "reference_id": "MONDO:0007034"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8453,
      "label": "Adams-Oliver syndrome"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}