{
  "id": 8499,
  "label": "autosomal dominant Alport syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007086",
  "properties": {
    "xrefs": [
      "DOID:0110032",
      "GARD:0000624",
      "MEDGEN:1848787",
      "OMIM:104200",
      "Orphanet:88918",
      "SCTID:717766000",
      "UMLS:C5882663"
    ],
    "synonyms": [
      "Alport syndrome 3, autosomal dominant",
      "Alport syndrome, autosomal dominant",
      "Alport syndrome dominant type",
      "renal failure and sensorineural hearing loss"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18887,
      "label": "Alport syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10983",
          "GARD:0005785",
          "ICD10CM:Q87.81",
          "MEDGEN:339209",
          "MedDRA:10001843",
          "NANDO:1200712",
          "NANDO:2200126",
          "NCIT:C34842",
          "NORD:756",
          "OMIMPS:301050",
          "Orphanet:63",
          "UMLS:C1567741",
          "icd11.foundation:1170919425"
        ],
        "synonyms": [
          "hereditary nephritis",
          "Alport deafness-nephropathy",
          "Alport syndrome",
          "Alport's syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018965"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18887,
      "label": "Alport syndrome"
    }
  ]
}