{
  "id": 16120,
  "label": "Bardet-Biedl syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015229",
  "properties": {
    "xrefs": [
      "DOID:1935",
      "GARD:0006866",
      "ICD9:759.89",
      "MEDGEN:156019",
      "MESH:D020788",
      "MedDRA:10056715",
      "NANDO:2200414",
      "NCIT:C118632",
      "NORD:838",
      "OMIMPS:209900",
      "Orphanet:110",
      "SCTID:5619004",
      "UMLS:C0752166",
      "icd11.foundation:255526264"
    ],
    "synonyms": [
      "BBS",
      "Bardet-Biedl syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "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": 7000,
      "label": "ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060340",
          "EFO:0003900",
          "GARD:0021544",
          "GTR:AN0966173",
          "MEDGEN:908923",
          "Orphanet:363250",
          "UMLS:C4277690"
        ],
        "synonyms": [
          "ciliopathy",
          "ciliopathies"
        ],
        "definition": "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005308"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "id": 10119,
      "label": "Bardet-Biedl syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110123",
          "GARD:0000820",
          "MEDGEN:422452",
          "MESH:C537909",
          "OMIM:209900",
          "UMLS:C2936862"
        ],
        "synonyms": [
          "BBS1",
          "Bardet-Biedl syndrome 1",
          "Bardet-Biedl syndrome 1, modifier of",
          "Bardet-Biedl syndrome type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008854"
    },
    {
      "id": 11968,
      "label": "Bardet-Biedl syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110125",
          "GARD:0000822",
          "MEDGEN:347179",
          "MESH:C537911",
          "OMIM:600151",
          "UMLS:C1859564"
        ],
        "synonyms": [
          "BBS3",
          "Bardet-Biedl syndrome 3",
          "Bardet-Biedl syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010832"
    },
    {
      "id": 12622,
      "label": "Bardet-Biedl syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29280
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110128",
          "GARD:0010205",
          "MEDGEN:347610",
          "MESH:C565738",
          "OMIM:605231",
          "UMLS:C1858054"
        ],
        "synonyms": [
          "BBS6",
          "Bardet-Biedl syndrome 6",
          "Bardet-Biedl syndrome type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011523"
    },
    {
      "id": 15432,
      "label": "Bardet-Biedl syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29278
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110124",
          "GARD:0000821",
          "MEDGEN:422453",
          "MESH:C537910",
          "OMIM:615981",
          "UMLS:C2936863"
        ],
        "synonyms": [
          "BBS2",
          "BBS2 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 2",
          "Bardet-Biedl syndrome caused by mutation in BBS2",
          "Bardet-Biedl syndrome type 2",
          "BBS",
          "Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014432"
    },
    {
      "id": 15433,
      "label": "Bardet-Biedl syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29274
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110126",
          "GARD:0000823",
          "MEDGEN:423627",
          "MESH:C537912",
          "OMIM:615982",
          "UMLS:C2936864"
        ],
        "synonyms": [
          "BBS4",
          "Bardet-Biedl syndrome 4",
          "Bardet-Biedl syndrome type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014433"
    },
    {
      "id": 15434,
      "label": "Bardet-Biedl syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110127",
          "GARD:0010204",
          "MEDGEN:856141",
          "OMIM:615983",
          "UMLS:C3892039"
        ],
        "synonyms": [
          "BBS5",
          "BBS5 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 5",
          "Bardet-Biedl syndrome caused by mutation in BBS5",
          "Bardet-Biedl syndrome type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014434"
    },
    {
      "id": 15435,
      "label": "Bardet-Biedl syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110129",
          "GARD:0010206",
          "MEDGEN:347180",
          "MESH:C565916",
          "OMIM:615984",
          "UMLS:C1859565"
        ],
        "synonyms": [
          "BBS7",
          "BBS7 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 7",
          "Bardet-Biedl syndrome caused by mutation in BBS7",
          "Bardet-Biedl syndrome type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014435"
    },
    {
      "id": 15436,
      "label": "Bardet-Biedl syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29279
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110130",
          "GARD:0010207",
          "MEDGEN:347181",
          "MESH:C565917",
          "OMIM:615985",
          "UMLS:C1859566"
        ],
        "synonyms": [
          "BBS8",
          "Bardet-Biedl syndrome 8",
          "Bardet-Biedl syndrome caused by mutation in TTC8",
          "Bardet-Biedl syndrome type 8",
          "TTC8 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014436"
    },
    {
      "id": 15437,
      "label": "Bardet-Biedl syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24631
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110131",
          "GARD:0010208",
          "MEDGEN:347182",
          "MESH:C565918",
          "OMIM:615986",
          "UMLS:C1859567"
        ],
        "synonyms": [
          "BBS9",
          "BBS9 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 9",
          "Bardet-Biedl syndrome caused by mutation in BBS9",
          "Bardet-Biedl syndrome type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014437"
    },
    {
      "id": 15438,
      "label": "Bardet-Biedl syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110132",
          "GARD:0010209",
          "MEDGEN:347909",
          "MESH:C565919",
          "OMIM:615987",
          "UMLS:C1859568"
        ],
        "synonyms": [
          "BBS10",
          "BBS10 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 10",
          "Bardet-Biedl syndrome caused by mutation in BBS10",
          "Bardet-Biedl syndrome type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014438"
    },
    {
      "id": 15439,
      "label": "Bardet-Biedl syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16120,
        16754
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110133",
          "GARD:0010210",
          "MEDGEN:395295",
          "MESH:C565920",
          "OMIM:615988",
          "UMLS:C1859569"
        ],
        "synonyms": [
          "BBS11",
          "Bardet-Biedl syndrome 11",
          "Bardet-Biedl syndrome caused by mutation in TRIM32",
          "Bardet-Biedl syndrome type 11",
          "TRIM32 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014439"
    },
    {
      "id": 15440,
      "label": "Bardet-Biedl syndrome 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29275
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110134",
          "GARD:0010211",
          "MEDGEN:347910",
          "MESH:C565921",
          "OMIM:615989",
          "UMLS:C1859570"
        ],
        "synonyms": [
          "BBS12",
          "BBS12 Bardet-Biedl syndrome",
          "Bardet-Biedl syndrome 12",
          "Bardet-Biedl syndrome caused by mutation in BBS12",
          "Bardet-Biedl syndrome type 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014440"
    },
    {
      "id": 15441,
      "label": "Bardet-Biedl syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110135",
          "GARD:0016037",
          "MEDGEN:393032",
          "MESH:C567140",
          "OMIM:615990",
          "UMLS:C2673873"
        ],
        "synonyms": [
          "BBS13",
          "Bardet-Biedl syndrome 13",
          "Bardet-Biedl syndrome caused by mutation in MKS1",
          "Bardet-Biedl syndrome type 13",
          "MKS1 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014441"
    },
    {
      "id": 15442,
      "label": "Bardet-Biedl syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24178
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110136",
          "GARD:0016038",
          "MEDGEN:393033",
          "MESH:C567141",
          "OMIM:615991",
          "UMLS:C2673874"
        ],
        "synonyms": [
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome 14, modifier of",
          "Bardet-Biedl syndrome type 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014442"
    },
    {
      "id": 15443,
      "label": "Bardet-Biedl syndrome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110137",
          "GARD:0016039",
          "MEDGEN:461477",
          "OMIM:615992",
          "UMLS:C3150127"
        ],
        "synonyms": [
          "BBS15",
          "Bardet-Biedl syndrome 15",
          "Bardet-Biedl syndrome caused by mutation in WDPCP",
          "Bardet-Biedl syndrome type 15",
          "WDPCP Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014443"
    },
    {
      "id": 15444,
      "label": "Bardet-Biedl syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110138",
          "GARD:0016040",
          "MEDGEN:855172",
          "OMIM:615993",
          "UMLS:C3889474"
        ],
        "synonyms": [
          "BBS16",
          "Bardet-Biedl syndrome 16",
          "Bardet-Biedl syndrome caused by mutation in SDCCAG8",
          "Bardet-Biedl syndrome type 16",
          "SDCCAG8 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014444"
    },
    {
      "id": 15445,
      "label": "Bardet-Biedl syndrome 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29276
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110139",
          "GARD:0016041",
          "MEDGEN:811538",
          "OMIM:615994",
          "UMLS:C3714980"
        ],
        "synonyms": [
          "BBS17",
          "Bardet-Biedl syndrome 17",
          "Bardet-Biedl syndrome caused by mutation in LZTFL1",
          "Bardet-Biedl syndrome type 17",
          "LZTFL1 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014445"
    },
    {
      "id": 15446,
      "label": "Bardet-Biedl syndrome 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110140",
          "GARD:0016042",
          "MEDGEN:812504",
          "OMIM:615995",
          "UMLS:C3806174"
        ],
        "synonyms": [
          "BBIP1 Bardet-Biedl syndrome",
          "BBS18",
          "Bardet-Biedl syndrome 18",
          "Bardet-Biedl syndrome caused by mutation in BBIP1",
          "Bardet-Biedl syndrome type 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014446"
    },
    {
      "id": 15447,
      "label": "Bardet-Biedl syndrome 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110141",
          "GARD:0016043",
          "MEDGEN:855173",
          "OMIM:615996",
          "UMLS:C3889475"
        ],
        "synonyms": [
          "BBS19",
          "Bardet-Biedl syndrome 19",
          "Bardet-Biedl syndrome caused by mutation in IFT27",
          "Bardet-Biedl syndrome type 19",
          "IFT27 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014447"
    },
    {
      "id": 15905,
      "label": "Bardet-Biedl syndrome 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        29350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081011",
          "GARD:0016193",
          "MEDGEN:1794146",
          "OMIM:617119",
          "UMLS:C5561936"
        ],
        "synonyms": [
          "Bardet-Biedl syndrome caused by mutation in IFT74",
          "IFT74 Bardet-Biedl syndrome",
          "BBS20",
          "Bardet-Biedl syndrome 20; BBS20",
          "Bardet-Biedl syndrome type 20"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014926"
    },
    {
      "id": 21263,
      "label": "Bardet-Biedl syndrome 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081009",
          "GARD:0025375",
          "MEDGEN:934674",
          "OMIM:619471",
          "UMLS:C4310707"
        ],
        "synonyms": [
          "BBS20"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023670"
    },
    {
      "id": 23311,
      "label": "bardet-biedl syndrome 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16120,
        24747
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081010",
          "GARD:0016226",
          "MEDGEN:1374358",
          "OMIM:617406",
          "UMLS:C4319932"
        ],
        "synonyms": [
          "BBS21",
          "Bardet-Biedl syndrome 21"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044308"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}