{
  "id": 21458,
  "label": "Adams-Oliver syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024506",
  "properties": {
    "xrefs": [
      "GARD:0025406",
      "MEDGEN:1635567",
      "OMIM:100300",
      "UMLS:C4551482"
    ],
    "synonyms": [
      "AOS1",
      "ARHGAP31 Adams-Oliver syndrome",
      "Adams-Oliver syndrome 1",
      "Adams-Oliver syndrome caused by mutation in ARHGAP31",
      "AOS",
      "absence defect of limbs, scalp, and skull",
      "aplasia cutis congenita with terminal transverse limb defects",
      "aplasia cutis congenita, congenital heart defect, and frontonasal cysts",
      "congenital scalp defects with distal limb reduction anomalies"
    ],
    "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 ARHGAP31 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"
    }
  ]
}