{
  "id": 11171,
  "label": "renal tubular dysgenesis of genetic origin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009970",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "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": 24711,
      "label": "renal tubular dysgenesis - ACE",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027294"
        ],
        "synonyms": [
          "ACE related renal tubular dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any renal tubular dysgenesis in which the cause of the disease is a mutation in the ACE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700337"
    }
  ],
  "roots": [
    {
      "id": 17886,
      "label": "renal tubular dysgenesis"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}