{
  "id": 9629,
  "label": "Liddle syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008323",
  "properties": {
    "xrefs": [
      "DOID:0050477",
      "GARD:0007381",
      "MEDGEN:67439",
      "MESH:D056929",
      "MedDRA:10037113",
      "MedDRA:10052313",
      "NANDO:2100131",
      "NANDO:2200363",
      "NCIT:C84827",
      "NORD:2034",
      "OMIMPS:177200",
      "Orphanet:526",
      "SCTID:707747007",
      "UMLS:C0221043"
    ],
    "synonyms": [
      "Liddle syndrome",
      "pseudoaldosteronism",
      "pseudohyperaldosteronism type 1",
      "LIDLS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 8001,
      "label": "renal tubular transport disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:447",
          "EFO:1000647",
          "MEDGEN:19728",
          "MESH:D015499",
          "UMLS:C0035091"
        ],
        "synonyms": [
          "disorder of renal absorption",
          "renal absorption disease",
          "kidney tubular transport, inborn error",
          "kidney tubular transport, inborn errors",
          "renal tubular transport errors",
          "renal tubular transport, inborn error"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Genetic defects in the selective or non-selective transport functions of the kidney tubules."
      },
      "child_count": 9,
      "reference_id": "MONDO:0006510"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "id": 20042,
      "label": "Liddle syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025186",
          "OMIM:177200"
        ],
        "synonyms": [
          "Liddle syndrome 1",
          "Liddle syndrome caused by mutation in SCNN1B",
          "SCNN1B Liddle syndrome",
          "LIDLS1",
          "Liddle syndrome",
          "Pseudoaldosteronism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020607"
    },
    {
      "id": 20235,
      "label": "Liddle syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025263",
          "MEDGEN:1648476",
          "OMIM:618114",
          "UMLS:C4748251"
        ],
        "synonyms": [
          "LIDLS2",
          "Liddle syndrome 2",
          "Liddle syndrome caused by mutation in SCNN1G",
          "SCNN1G Liddle syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020854"
    },
    {
      "id": 21776,
      "label": "Liddle syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025502",
          "MEDGEN:1648443",
          "OMIM:618126",
          "UMLS:C4748292"
        ],
        "synonyms": [
          "Liddle syndrome 3",
          "LIDLS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029132"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}