{
  "id": 13672,
  "label": "Meckel syndrome, type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012626",
  "properties": {
    "xrefs": [
      "DOID:0070118",
      "GARD:0015509",
      "MEDGEN:410003",
      "OMIM:611134",
      "UMLS:C1970161"
    ],
    "synonyms": [
      "CEP290 Meckel syndrome",
      "MKS4",
      "Meckel syndrome caused by mutation in CEP290",
      "Meckel syndrome, type 4",
      "Meckel-Gruber syndrome, type 4",
      "Meckel syndrome 4",
      "Meckel-like Cerebrorenodigital syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18845,
      "label": "Meckel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7000,
        23110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050778",
          "GARD:0003436",
          "ICD9:753.1",
          "ICD9:753.10",
          "ICD9:759.89",
          "MEDGEN:120513",
          "NCIT:C98978",
          "OMIMPS:249000",
          "Orphanet:564",
          "SCTID:29076005",
          "UMLS:C0265215",
          "icd11.foundation:695796893"
        ],
        "synonyms": [
          "Meckel-Gruber syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018921"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026225"
        ],
        "synonyms": [
          "CEP290 ciliopathy",
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome type 14",
          "CEP290 Joubert syndrome",
          "CEP290 Leber congenital amaurosis",
          "CEP290 Meckel syndrome",
          "CEP290 Senior-Loken syndrome",
          "JBTS5",
          "Joubert syndrome 5",
          "Joubert syndrome caused by mutation in CEP290",
          "Joubert syndrome type 5",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "MKS4",
          "Meckel syndrome 4",
          "Meckel syndrome caused by mutation in CEP290",
          "Meckel syndrome, type 4",
          "Meckel-Gruber syndrome, type 4",
          "Meckel-like Cerebrorenodigital syndrome",
          "SENIOR-Loken syndrome 6",
          "SLSN6",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "amaurosis congenita of Leber, type 10"
        ],
        "definition": "A ciliopathy caused by biallelic variants in the CEP290 gene."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100451"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        20258,
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026428"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two."
      },
      "child_count": 84,
      "reference_id": "MONDO:0800066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18845,
      "label": "Meckel syndrome"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}