{
  "id": 16886,
  "label": "hydrocephalus-blue sclerae-nephropathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016350",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16885,
      "label": "congenital hydrocephalus"
    }
  ]
}