{
  "id": 11167,
  "label": "NPHP3-related Meckel-like syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009966",
  "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"
      }
    ]
  },
  "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": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18845,
      "label": "Meckel syndrome"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}