{
  "id": 10034,
  "label": "autosomal recessive Alport syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008762",
  "properties": {
    "xrefs": [
      "DOID:0110033",
      "GARD:0000625",
      "MEDGEN:1648334",
      "MedDRA:10001843",
      "OMIM:203780",
      "Orphanet:88919",
      "SCTID:717767009",
      "UMLS:C4746745"
    ],
    "synonyms": [
      "Alport syndrome 2, autosomal recessive",
      "Alport syndrome, autosomal recessive",
      "Alport syndrome autosomal recessive",
      "Alport syndrome recessive type",
      "nephropathy and deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Autosomal recessive 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. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18887,
      "label": "Alport syndrome"
    }
  ]
}