{
  "id": 8453,
  "label": "Adams-Oliver syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007034",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 14660,
      "label": "Adams-Oliver syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013635"
    },
    {
      "id": 14907,
      "label": "Adams-Oliver syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061179",
          "GARD:0015842",
          "MEDGEN:766662",
          "OMIM:614814",
          "UMLS:C3553748"
        ],
        "synonyms": [
          "Adams-Oliver syndrome 3",
          "Adams-Oliver syndrome caused by mutation in RBPJ",
          "Adams-Oliver syndrome type 3",
          "RBPJ Adams-Oliver syndrome",
          "AOS3"
        ],
        "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 RBPJ gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013895"
    },
    {
      "id": 15132,
      "label": "Adams-Oliver syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015941",
          "MEDGEN:815422",
          "OMIM:615297",
          "UMLS:C3809092"
        ],
        "synonyms": [
          "Adams-Oliver syndrome 4",
          "Adams-Oliver syndrome caused by mutation in EOGT",
          "Adams-Oliver syndrome type 4",
          "EOGT Adams-Oliver syndrome",
          "AOS4"
        ],
        "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 EOGT gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014124"
    },
    {
      "id": 15459,
      "label": "Adams-Oliver syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479,
        29323
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014459"
    },
    {
      "id": 15697,
      "label": "Adams-Oliver syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016142",
          "MEDGEN:908556",
          "OMIM:616589",
          "UMLS:C4225271"
        ],
        "synonyms": [
          "Adams-Oliver syndrome 6",
          "Adams-Oliver syndrome caused by mutation in DLL4",
          "Adams-Oliver syndrome type 6",
          "DLL4 Adams-Oliver syndrome",
          "AOS6"
        ],
        "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 DLL4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014703"
    },
    {
      "id": 21458,
      "label": "Adams-Oliver syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024506"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}