{
  "id": 12527,
  "label": "autosomal recessive proximal renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011422",
  "properties": {
    "xrefs": [
      "DOID:0061167",
      "GARD:0016826",
      "MEDGEN:370883",
      "MESH:C567038",
      "OMIM:604278",
      "Orphanet:93607",
      "UMLS:C1970309"
    ],
    "synonyms": [
      "AR pRTA",
      "proximal renal tubular acidosis with ocular abnormalities and intellectual disability",
      "proximal renal tubular acidosis, autosomal recessive",
      "renal tubular acidosis, proximal, with ocular abnormalities",
      "RTA, proximal, autosomal recessive",
      "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability",
      "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 9669,
      "label": "proximal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061165",
          "GARD:0016644",
          "ICD9:588.89",
          "MEDGEN:82804",
          "MedDRA:10037080",
          "OMIM:179830",
          "Orphanet:47159",
          "SCTID:24790002",
          "UMLS:C0268435"
        ],
        "synonyms": [
          "Type 2 RTA",
          "Type 2 renal tubular acidosis",
          "pRTA",
          "renal tubular acidosis type 2",
          "RTA, proximal type",
          "RTA, rate type",
          "renal tubular acidosis 2",
          "renal tubular acidosis, proximal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008369"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 9669,
      "label": "proximal renal tubular acidosis"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}