{
  "id": 17886,
  "label": "renal tubular dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017609",
  "properties": {
    "xrefs": [
      "GARD:0000379",
      "MEDGEN:82738",
      "Orphanet:3033",
      "SCTID:702397002",
      "UMLS:C0266313",
      "icd11.foundation:191424358"
    ],
    "synonyms": [
      "primitive renal tubule syndrome",
      "renotubular dysgenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6948,
      "label": "kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:557",
          "EFO:0003086",
          "ICD9:583.81",
          "MEDGEN:9635",
          "MESH:D007674",
          "NCIT:C3149",
          "SCTID:90708001",
          "UMLS:C0022658"
        ],
        "synonyms": [
          "disease of kidney",
          "disease or disorder of kidney",
          "disorder of kidney",
          "kidney disease",
          "kidney disease or disorder",
          "kidney disorder",
          "renal disease",
          "renal disorder",
          "nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A disease involving the kidney."
      },
      "child_count": 57,
      "reference_id": "MONDO:0005240"
    }
  ],
  "children": [
    {
      "id": 11171,
      "label": "renal tubular dysgenesis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17886,
        20383,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016854",
          "MEDGEN:1826125",
          "OMIM:267430",
          "Orphanet:97369",
          "UMLS:C5681536",
          "icd11.foundation:616055520"
        ],
        "synonyms": [
          "genetic renal tubular dysgenesis",
          "renal tubular dysgenesis of genetic origin",
          "RTD",
          "primitive renal tubule syndrome",
          "renal tubular dysgenesis",
          "renal tubular dysgenesis with choanal atresia and athelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome."
      },
      "child_count": 3,
      "reference_id": "MONDO:0009970"
    },
    {
      "id": 19695,
      "label": "renal tubular dysgenesis due to twin-twin transfusion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17886
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019377",
          "MEDGEN:1766862",
          "Orphanet:97367",
          "UMLS:C5438872",
          "icd11.foundation:122234138"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019984"
    },
    {
      "id": 19696,
      "label": "drug-related renal tubular dysgenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17886
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019378",
          "MEDGEN:1771212",
          "Orphanet:97368",
          "UMLS:C5438798"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019985"
    }
  ],
  "roots": [
    {
      "id": 6948,
      "label": "kidney disorder"
    }
  ]
}