{
  "id": 22625,
  "label": "nephrotic syndrome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033203",
  "properties": {
    "xrefs": [
      "DOID:0080265",
      "GARD:0013818",
      "MEDGEN:1617660",
      "OMIM:617575",
      "Orphanet:506334",
      "UMLS:C4540559"
    ],
    "synonyms": [
      "RENI syndrome",
      "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14",
      "SPLIS",
      "familial steroid-resistant nephrotic syndrome with adrenal insufficiency",
      "nephrotic syndrome 14",
      "nephrotic syndrome, type 14",
      "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency",
      "renal, endocrine, neurologic and immune syndrome",
      "sphingosine phosphate lyase insufficiency syndrome",
      "NPHS14"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4449,
      "label": "familial nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7058,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2590",
          "GARD:0027602",
          "MEDGEN:502251",
          "NCIT:C35337",
          "OMIMPS:256300",
          "SCTID:48796009",
          "UMLS:C3501848",
          "icd11.foundation:1524476844"
        ],
        "synonyms": [
          "congenital nephrotic syndrome",
          "hereditary nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002350"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    },
    {
      "id": 23429,
      "label": "steroid-resistant nephrotic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7058
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027973",
          "GTR:AN0096391",
          "GTR:AN0096395",
          "GTR:AN0200342",
          "GTR:AN0255485",
          "MEDGEN:588369",
          "NCIT:C122798",
          "SCTID:236381000",
          "UMLS:C0403397"
        ],
        "synonyms": [
          "nephrotic syndrome of childhood - steroid resistant",
          "nephrotic syndrome-steroid-resistant",
          "steroid-resistant nephrotic syndrome",
          "nephrotic syndrome, idiopathic, steroid-resistant",
          "nephrotic syndrome, steroid-resistant, autosomal recessive",
          "NPHS2",
          "SRNS - steroid-resistant nephrotic syndrome",
          "steroid-unresponsive nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids."
      },
      "child_count": 4,
      "reference_id": "MONDO:0044765"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4449,
      "label": "familial nephrotic syndrome"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    },
    {
      "id": 23429,
      "label": "steroid-resistant nephrotic syndrome"
    }
  ]
}