{
  "id": 19695,
  "label": "renal tubular dysgenesis due to twin-twin transfusion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019984",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17886,
      "label": "renal tubular dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017609"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17886,
      "label": "renal tubular dysgenesis"
    }
  ]
}