{
  "id": 10792,
  "label": "Meckel syndrome, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009571",
  "properties": {
    "xrefs": [
      "DOID:0070115",
      "GARD:0024681",
      "MEDGEN:811346",
      "MESH:C536133",
      "OMIM:249000",
      "UMLS:C3714506"
    ],
    "synonyms": [
      "MKS1",
      "MKS1 Meckel syndrome",
      "Meckel syndrome caused by mutation in MKS1",
      "Meckel syndrome, type 1",
      "Meckel-Gruber syndrome, type 1",
      "Dysencephalia Splanchnocystica",
      "Dysencephalia splachnocystica",
      "Gruber syndrome",
      "MKS",
      "Meckel Gruber syndrome",
      "Meckel syndrome",
      "Meckel syndrome 1",
      "Meckel syndrome type1",
      "Meckel-Gruber syndrome",
      "Mes"
    ],
    "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 MKS1 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": 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"
    },
    {
      "id": 29291,
      "label": "MKS1-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028148"
        ],
        "synonyms": [
          "MKS1-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by variants in the MKS1 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040068"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18845,
      "label": "Meckel syndrome"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    },
    {
      "id": 29291,
      "label": "MKS1-related ciliopathy"
    }
  ]
}