{
    "disease_id": "DOID:0061195",
    "recommended_name": {
        "id": "DOID:0061195",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061195",
        "name": "proximal renal tubular acidosis-ocular anomaly syndrome",
        "description": "A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "autosomal recessive proximal renal tubular acidosis",
            "description": "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."
        },
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "AR pRTA",
            "description": ""
        },
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "proximal renal tubular acidosis with ocular abnormalities and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "proximal renal tubular acidosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "renal tubular acidosis, proximal, with ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "name": "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:604278",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604278",
            "name": "Proximal renal tubular acidosis-ocular anomaly syndrome",
            "description": "Proximal renal tubular acidosis-ocular anomaly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061195"
    ],
    "unlinked_id_list": []
}