{
  "id": 18845,
  "label": "Meckel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018921",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "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": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021947",
          "MEDGEN:1843298",
          "Orphanet:471383",
          "UMLS:C5681265"
        ],
        "synonyms": [
          "genetic lethal multiple congenital anomalies/dysmorphic syndrome"
        ],
        "definition": "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0043009"
    }
  ],
  "children": [
    {
      "id": 10792,
      "label": "Meckel syndrome, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24804,
        29291
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009571"
    },
    {
      "id": 11167,
      "label": "NPHP3-related Meckel-like syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070121",
          "GARD:0004665",
          "MEDGEN:382217",
          "MESH:C537756",
          "OMIM:267010",
          "Orphanet:3032",
          "PMID:18371931",
          "UMLS:C2673885"
        ],
        "synonyms": [
          "Goldston syndrome",
          "MKS7",
          "Meckel syndrome type 7",
          "Meckel-like syndrome type 1",
          "NPHP3-related Meckel-like syndrome",
          "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome",
          "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia",
          "Meckel syndrome 7",
          "Meckel syndrome, type 7",
          "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009966"
    },
    {
      "id": 12412,
      "label": "Meckel syndrome, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070116",
          "GARD:0008743",
          "MEDGEN:351059",
          "MESH:C536131",
          "OMIM:603194",
          "UMLS:C1864148"
        ],
        "synonyms": [
          "MKS2",
          "Meckel syndrome caused by mutation in TMEM216",
          "Meckel syndrome, type 2",
          "Meckel-Gruber syndrome, type 2",
          "TMEM216 Meckel syndrome",
          "Meckel syndrome 2",
          "Meckel syndrome type 2"
        ],
        "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 TMEM216 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011296"
    },
    {
      "id": 12902,
      "label": "Meckel syndrome, type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070117",
          "GARD:0008744",
          "MEDGEN:335402",
          "MESH:C536132",
          "OMIM:607361",
          "UMLS:C1846357"
        ],
        "synonyms": [
          "MKS3",
          "Meckel syndrome caused by mutation in TMEM67",
          "Meckel syndrome, type 3",
          "Meckel-Gruber syndrome, type 3",
          "TMEM67 Meckel syndrome",
          "Meckel syndrome 3",
          "Meckel syndrome type 3"
        ],
        "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 TMEM67 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011821"
    },
    {
      "id": 13672,
      "label": "Meckel syndrome, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24178,
        24804
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012626"
    },
    {
      "id": 13735,
      "label": "Meckel syndrome, type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070119",
          "GARD:0015520",
          "MEDGEN:409740",
          "MESH:C566915",
          "OMIM:611561",
          "UMLS:C1969052"
        ],
        "synonyms": [
          "MKS5",
          "Meckel syndrome caused by mutation in RPGRIP1L",
          "Meckel syndrome, type 5",
          "RPGRIP1L Meckel syndrome",
          "Meckel syndrome 5"
        ],
        "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 RPGRIP1L gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012695"
    },
    {
      "id": 13888,
      "label": "Meckel syndrome, type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070120",
          "GARD:0015548",
          "MEDGEN:382942",
          "MESH:C567365",
          "OMIM:612284",
          "UMLS:C2676790"
        ],
        "synonyms": [
          "CC2D2A Meckel syndrome",
          "MKS6",
          "Meckel syndrome caused by mutation in CC2D2A",
          "Meckel syndrome, type 6",
          "Meckel syndrome 6"
        ],
        "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 CC2D2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012848"
    },
    {
      "id": 14513,
      "label": "Meckel syndrome, type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070122",
          "GARD:0015727",
          "MEDGEN:854220",
          "OMIM:613885",
          "UMLS:C3836857"
        ],
        "synonyms": [
          "MKS8",
          "Meckel syndrome caused by mutation in TCTN2",
          "Meckel syndrome, type 8",
          "TCTN2 Meckel syndrome",
          "Meckel syndrome 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013482"
    },
    {
      "id": 14635,
      "label": "Meckel syndrome, type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024937",
          "GTR:AN1012156",
          "GTR:AN1012610",
          "MEDGEN:481666",
          "OMIM:614175",
          "UMLS:C3280036"
        ],
        "synonyms": [
          "B9D2 Meckel syndrome",
          "Meckel syndrome caused by mutation in B9D2",
          "Meckel syndrome, type 10",
          "meckel syndrome 10",
          "JBTS34",
          "Joubert syndrome 34",
          "MKS10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013609"
    },
    {
      "id": 14655,
      "label": "Meckel syndrome, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015773",
          "MEDGEN:481785",
          "OMIM:614209",
          "UMLS:C3280155"
        ],
        "synonyms": [
          "B9D1 Meckel syndrome",
          "Meckel syndrome caused by mutation in B9D1",
          "Meckel syndrome, type 9",
          "meckel syndrome 9",
          "MKS9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013630"
    },
    {
      "id": 15171,
      "label": "Meckel syndrome, type 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015957",
          "MEDGEN:815682",
          "OMIM:615397",
          "UMLS:C3809352"
        ],
        "synonyms": [
          "Meckel syndrome caused by mutation in TMEM231",
          "Meckel syndrome, type 11",
          "TMEM231 Meckel syndrome",
          "meckel syndrome 11",
          "MKS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014164"
    },
    {
      "id": 15551,
      "label": "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16094,
        18845,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017743",
          "MEDGEN:864138",
          "OMIM:616258",
          "Orphanet:439897",
          "UMLS:C4015701"
        ],
        "synonyms": [
          "Meckel syndrome type 12",
          "MKS12",
          "Meckel syndrome 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014552"
    },
    {
      "id": 22056,
      "label": "meckel syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025643",
          "MEDGEN:1809650",
          "OMIM:619879",
          "UMLS:C5676989"
        ],
        "synonyms": [
          "MKS14",
          "meckel syndrome 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030819"
    },
    {
      "id": 22607,
      "label": "Meckel syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18845
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080253",
          "GARD:0016236",
          "MEDGEN:1627793",
          "OMIM:617562",
          "UMLS:C4539714"
        ],
        "synonyms": [
          "Meckel syndrome 13",
          "Meckel syndrome, type 13",
          "MKS13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033044"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7000,
      "label": "ciliopathy"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"
    }
  ]
}