{
  "id": 11759,
  "label": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010611",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 16885,
      "label": "congenital hydrocephalus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3395,
        4427,
        20383,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 32,
      "reference_id": "MONDO:0016349"
    },
    {
      "id": 17500,
      "label": "L1 syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012524",
          "MEDGEN:1830362",
          "NORD:1343",
          "Orphanet:275543",
          "UMLS:C5779710",
          "icd11.foundation:1457804873"
        ],
        "synonyms": [
          "CRASH syndrome",
          "L1 syndrome",
          "L1CAM syndrome",
          "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome"
        ],
        "definition": "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017140"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 16885,
      "label": "congenital hydrocephalus"
    },
    {
      "id": 17500,
      "label": "L1 syndrome"
    }
  ]
}