{
  "id": 18887,
  "label": "Alport syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018965",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 7021,
      "label": "hereditary nephritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3410,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:10305",
          "MESH:D009394",
          "SCTID:399340005",
          "UMLS:C0027706"
        ],
        "synonyms": [
          "hereditary nephritis",
          "familial nephritis",
          "nephritis, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane."
      },
      "child_count": 14,
      "reference_id": "MONDO:0005334"
    }
  ],
  "children": [
    {
      "id": 8499,
      "label": "autosomal dominant Alport syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18887
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007086"
    },
    {
      "id": 10034,
      "label": "autosomal recessive Alport syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        18887
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008762"
    },
    {
      "id": 11677,
      "label": "X-linked Alport syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        18887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110034",
          "GARD:0016774",
          "MEDGEN:1648433",
          "MedDRA:10001843",
          "OMIM:301050",
          "Orphanet:88917",
          "SCTID:717768004",
          "UMLS:C4746986"
        ],
        "synonyms": [
          "Alport syndrome 1, X-linked, X-linked dominant",
          "Alport syndrome, X-linked",
          "X-linked Alport syndrome",
          "nephropathy and deafness, X-linked",
          "ATS",
          "congenital hereditary hematuria",
          "hemorrhagic familial nephritis",
          "hemorrhagic hereditary nephritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "X-linked form of Alport syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010520"
    },
    {
      "id": 25749,
      "label": "Alport syndrome 3b, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026876",
          "MEDGEN:1848447",
          "OMIM:620536",
          "UMLS:C5882699"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957811"
    },
    {
      "id": 25823,
      "label": "digenic Alport syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026932",
          "MEDGEN:1863937",
          "Orphanet:653722",
          "UMLS:C5925113"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958104"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7021,
      "label": "hereditary nephritis"
    }
  ]
}