{
  "id": 14646,
  "label": "LAMB2-related infantile-onset nephrotic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013621",
  "properties": {
    "xrefs": [
      "DOID:0080380",
      "GARD:0027849",
      "MEDGEN:481743",
      "MESH:C565405",
      "OMIM:249660",
      "OMIM:614199",
      "Orphanet:306507",
      "UMLS:C3280113"
    ],
    "synonyms": [
      "mesangial sclerosis, diffuse renal, with ocular abnormalities",
      "NPHS5",
      "nephrotic syndrome, type 5, with or without ocular abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 13247,
      "label": "Pierson syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        14646
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060852",
          "GARD:0009420",
          "MEDGEN:373199",
          "MESH:C537185",
          "NANDO:2200117",
          "NCIT:C128145",
          "OMIM:609049",
          "Orphanet:2670",
          "SCTID:723449004",
          "UMLS:C1836876",
          "icd11.foundation:555082533"
        ],
        "synonyms": [
          "Pierson syndrome",
          "microcoria-congenital nephrosis syndrome",
          "microcoria - congenital nephrosis",
          "microcoria - congenital nephrotic syndrome",
          "microcoria-congenital nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012184"
    }
  ],
  "roots": [
    {
      "id": 4449,
      "label": "familial nephrotic syndrome"
    }
  ]
}