{
  "id": 15459,
  "label": "Adams-Oliver syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014459",
  "properties": {
    "xrefs": [
      "GARD:0016049",
      "MEDGEN:863407",
      "OMIM:616028",
      "UMLS:C4014970"
    ],
    "synonyms": [
      "AOS5",
      "Adams-Oliver syndrome 5",
      "Adams-Oliver syndrome caused by mutation in NOTCH1",
      "Adams-Oliver syndrome caused by mutation in Notch1",
      "Adams-Oliver syndrome type 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 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"
    },
    {
      "id": 29323,
      "label": "NOTCH1-related AOS spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        24272,
        24336
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects)."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8453,
      "label": "Adams-Oliver syndrome"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    },
    {
      "id": 29323,
      "label": "NOTCH1-related AOS spectrum disorder"
    }
  ]
}