{
  "id": 11400,
  "label": "X-linked Opitz G/BBB syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010222",
  "properties": {
    "xrefs": [
      "GARD:0024713",
      "MEDGEN:424842",
      "NORD:1868",
      "OMIM:300000",
      "Orphanet:306597",
      "UMLS:C2936904"
    ],
    "synonyms": [
      "Opitz G/BBB syndrome, X-linked",
      "Opitz GBBB syndrome, type I, X-linked recessive",
      "X-linked Opitz BBB/G syndrome",
      "X-linked Opitz G/BBB syndrome",
      "X-linked Opitz syndrome",
      "XLOS",
      "GBBB1",
      "Opitz Bbbg syndrome, type 1",
      "Opitz GBBB syndrome, X-linked",
      "Opitz GBBB syndrome, type 1",
      "Opitz GBBB syndrome, type I",
      "Opitz syndrome",
      "Opitz syndrome, X-linked",
      "Opitz-G syndrome, type 1",
      "hypertelorism with esophageal Abnormality and hypospadias",
      "hypertelorism-hypospadias syndrome",
      "telecanthus-hypospadias syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "X-linked form of Opitz G/BBB syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 17498,
      "label": "Opitz G/BBB syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        9827,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050780",
          "DOID:0080697",
          "GARD:0000193",
          "ICD9:758.89",
          "NCIT:C125487",
          "OMIMPS:300000",
          "Orphanet:2745",
          "SCTID:81771002"
        ],
        "synonyms": [
          "Opitz G syndrome",
          "Opitz G/BBB syndrome",
          "Opitz GBBB syndrome",
          "Opitz syndrome",
          "Opitz-Frias syndrome",
          "Opitz-GBBB syndrome",
          "hypertelorism-oesophageal abnormality-hypospadias syndrome",
          "hypospadias-dysphagia syndrome",
          "hypospadias-hypertelorism syndrome",
          "BBB syndrome",
          "G syndrome",
          "GBBB syndrome",
          "Opitz BBBG syndrome",
          "Opitz-G syndrome, type 2",
          "hypertelorism hypospadias syndrome",
          "hypertelorism with esophageal abnormality and hypospadias",
          "hypospadias-dysphagia, syndrome",
          "telecanthus with associated abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017138"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 17498,
      "label": "Opitz G/BBB syndrome"
    }
  ]
}