{
  "id": 17498,
  "label": "Opitz G/BBB syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017138",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 9827,
      "label": "telecanthus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019505",
          "MEDGEN:140836",
          "MESH:C562941",
          "OMIM:187350",
          "Orphanet:98575",
          "UMLS:C0423113",
          "icd11.foundation:210416501"
        ],
        "synonyms": [
          "telecanthus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0008537"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [
    {
      "id": 11400,
      "label": "X-linked Opitz G/BBB syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        17498
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010222"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 9827,
      "label": "telecanthus"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}