{
  "id": 8792,
  "label": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007401",
  "properties": {
    "xrefs": [
      "GARD:0000998",
      "MEDGEN:325006",
      "MESH:C563973",
      "OMIM:123155",
      "Orphanet:1538",
      "SCTID:720813007",
      "UMLS:C1838347"
    ],
    "synonyms": [
      "Braddock-Jones-Superneau syndrome",
      "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome",
      "Braddock Jones Superneau syndrome",
      "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus",
      "HDCPH1",
      "hydrocephalus, autosomal dominant",
      "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3395,
      "label": "hydrocephalus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10908",
          "ICD10CM:G91",
          "ICD10WHO:G91",
          "MEDGEN:9335",
          "MESH:D006849",
          "NCIT:C3111",
          "SCTID:230745008",
          "UMLS:C0020255",
          "icd11.foundation:574533444"
        ],
        "synonyms": [
          "hydrocephalus, X-linked",
          "hydrocephalus, nonsyndromic, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain."
      },
      "child_count": 7,
      "reference_id": "MONDO:0001150"
    },
    {
      "id": 16468,
      "label": "familial scaphocephaly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020113",
          "MEDGEN:797875",
          "MedDRA:10072229",
          "Orphanet:169163",
          "UMLS:C3267076"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0015704"
    },
    {
      "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": 3395,
      "label": "hydrocephalus"
    },
    {
      "id": 16468,
      "label": "familial scaphocephaly syndrome"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}