{
  "id": 18488,
  "label": "autosomal recessive distal renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018440",
  "properties": {
    "xrefs": [
      "GARD:0004666",
      "MEDGEN:351142",
      "Orphanet:402041",
      "UMLS:C1864498"
    ],
    "synonyms": [
      "AR dRTA",
      "autosomal recessive distal RTA",
      "autosomal recessive distal renal tubular acidosis (disease)",
      "distal renal tubular acidosis (disease), autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 29329,
      "label": "inherited distal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16574,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028168",
          "OMIMPS:179800"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A form of distal renal tubular acidosis that is inherited."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060161"
    }
  ],
  "children": [
    {
      "id": 11169,
      "label": "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015229",
          "ICD9:389.8",
          "ICD9:588.89",
          "MEDGEN:98336",
          "MESH:C562897",
          "OMIM:267300",
          "Orphanet:93611",
          "SCTID:236532003",
          "SCTID:722468005",
          "UMLS:C0403554"
        ],
        "synonyms": [
          "distal renal tubular acidosis 2 with progressive sensorineural hearing loss",
          "distal renal tubular acidosis co-occurrent with sensorineural deafness",
          "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",
          "renal tubular acidosis, distal, with progressive nerve deafness",
          "AR dRTA with deafness",
          "AR dRTA with hearing loss",
          "RTA with progressive nerve deafness",
          "autosomal recessive distal renal tubular acidosis with deafness",
          "autosomal recessive distal renal tubular acidosis with hearing loss",
          "renal tubular acidosis progressive nerve deafness",
          "renal tubular acidosis type 1b",
          "renal tubular acidosis with deafness",
          "renal tubular acidosis with progressive nerve deafness",
          "renal tubular acidosis, autosomal recessive, with progressive nerve deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009968"
    },
    {
      "id": 12388,
      "label": "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081,
        16626,
        18488,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061166",
          "GARD:0015350",
          "MEDGEN:1732975",
          "OMIM:602722",
          "UMLS:C5399980"
        ],
        "synonyms": [
          "classical distal RTA",
          "classical distal renal tubular acidosis",
          "distal renal tubular acidosis 3, with or without sensorineural hearing loss",
          "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",
          "renal tubular acidosis, distal, autosomal recessive",
          "type 1 RTA",
          "type 1 renal tubular acidosis",
          "RTA, distal, autosomal recessive",
          "RTADR",
          "renal tubular acidosis, autosomal recessive with preserved hearing",
          "renal tubular acidosis, autosomal recessive, with preserved hearing",
          "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss",
          "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011268"
    },
    {
      "id": 13740,
      "label": "renal tubular acidosis, distal, 4, with hemolytic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        18488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012354",
          "MEDGEN:1771439",
          "OMIM:611590",
          "Orphanet:93610",
          "UMLS:C5436235"
        ],
        "synonyms": [
          "dRTA with anaemia",
          "dRTA with anemia",
          "distal renal tubular acidosis 4 with hemolytic anaemia",
          "distal renal tubular acidosis 4 with hemolytic anemia",
          "distal renal tubular acidosis with anaemia",
          "distal renal tubular acidosis with anemia",
          "RTA, distal, autosomal recessive, with hemolytic Anaemia",
          "renal tubular acidosis, distal, with hemolytic anaemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012700"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 29329,
      "label": "inherited distal renal tubular acidosis"
    }
  ]
}