{
  "id": 16885,
  "label": "congenital hydrocephalus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016349",
  "properties": {
    "xrefs": [
      "GARD:0006682",
      "ICD10CM:Q03",
      "ICD10WHO:Q03",
      "MEDGEN:9336",
      "MedDRA:10010506",
      "NANDO:2200822",
      "NCIT:C98876",
      "OMIMPS:236600",
      "Orphanet:2185",
      "SCTID:47032000",
      "UMLS:C0020256",
      "icd11.foundation:1878746673"
    ],
    "synonyms": [
      "congenital hydrocephalus",
      "HYC3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hydrocephalus that is present at birth."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "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": [
    {
      "id": 10592,
      "label": "hydrocephalus, nonsyndromic, autosomal recessive 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024663",
          "MEDGEN:854455",
          "OMIM:236600",
          "UMLS:C3887608"
        ],
        "synonyms": [
          "CCDC88C congenital hydrocephalus",
          "congenital hydrocephalus caused by mutation in CCDC88C",
          "hydrocephalus, congenital, 1",
          "hydrocephalus, nonsyndromic, autosomal recessive 1",
          "hydrocephalus, nonsyndromic, autosomal recessive type 1",
          "HYC1",
          "hydrocephaly",
          "ventriculomegaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009360"
    },
    {
      "id": 10593,
      "label": "autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024664",
          "MEDGEN:608953",
          "OMIM:236635",
          "UMLS:C0431355"
        ],
        "synonyms": [
          "hydrocephalus due to congenital stenosis of aqueduct of Sylvius",
          "aqueductal stenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009361"
    },
    {
      "id": 11759,
      "label": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        16885,
        17500
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000434",
          "MEDGEN:75552",
          "MESH:C536078",
          "OMIM:307000",
          "Orphanet:2182",
          "SCTID:71779008",
          "UMLS:C0265216",
          "icd11.foundation:1284135636"
        ],
        "synonyms": [
          "Bickers-Adams syndrome",
          "HSAS",
          "X-linked HSAS",
          "X-linked acqueductal stenosis",
          "X-linked hydrocephalus",
          "X-linked hydrocephalus with stenosis of aqueduct of Sylvius",
          "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
          "hydrocephalus due to aqueductal stenosis, X-linked recessive",
          "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive",
          "hydrocephalus with hirschsprung disease, X-linked recessive",
          "hydrocephalus with stenosis of the aqueduct of Sylvius",
          "HSAS1",
          "HYCX",
          "XLAS",
          "aqueductal stenosis, X-linked",
          "hydrocephalus due to congenital stenosis of aqueduct of Sylvius",
          "hydrocephalus, X-linked",
          "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010611"
    },
    {
      "id": 15094,
      "label": "hydrocephalus, nonsyndromic, autosomal recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024970",
          "MEDGEN:767605",
          "OMIM:615219",
          "UMLS:C3554691"
        ],
        "synonyms": [
          "MPDZ congenital hydrocephalus",
          "congenital hydrocephalus caused by mutation in MPDZ",
          "hydrocephalus, congenital, 2, with or without brain or eye anomalies",
          "hydrocephalus, nonsyndromic, autosomal recessive 2",
          "hydrocephalus, nonsyndromic, autosomal recessive type 2",
          "HYC2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014085"
    },
    {
      "id": 16886,
      "label": "hydrocephalus-blue sclerae-nephropathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000236",
          "MEDGEN:418960",
          "MESH:C535768",
          "Orphanet:2186",
          "UMLS:C2931014"
        ],
        "synonyms": [
          "Daentl-Townsend-Siegel syndrome",
          "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome",
          "hydrocephalus blue sclera nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016350"
    },
    {
      "id": 17489,
      "label": "congenital communicating hydrocephalus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020998",
          "MEDGEN:1842324",
          "Orphanet:269505",
          "UMLS:C5679774"
        ],
        "synonyms": [
          "congenital non-obstructive hydrocephalus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017116"
    },
    {
      "id": 17490,
      "label": "congenital non-communicating hydrocephalus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017272",
          "MEDGEN:1616373",
          "Orphanet:269510",
          "SCTID:762295002",
          "UMLS:C4546092"
        ],
        "synonyms": [
          "congenital obstructive hydrocephalus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017117"
    },
    {
      "id": 23627,
      "label": "hydrocephalus, congenital, 3, with brain anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025977",
          "MEDGEN:1648319",
          "OMIM:617967",
          "UMLS:C4747885"
        ],
        "synonyms": [
          "HYC3",
          "hydrocephalus, CONGENITAL, 3, with brain anomalies",
          "hydrocephalus, nonsyndromic, autosomal recessive 3",
          "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054794"
    }
  ],
  "roots": [
    {
      "id": 3395,
      "label": "hydrocephalus"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}