{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0061195",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061195",
            "categories": []
        },
        {
            "id": "MONDO:0011422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011422",
            "categories": []
        },
        {
            "id": "MIM:604278",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604278",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JKC2-1",
            "uniprot_ac": "A0AC58JKC2",
            "uniprot_id": "A0AC58JKC2_DANRE",
            "refseq_ac": "XP_073806935",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
                },
                {
                    "name": "solute carrier family 4 member 4a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc4a4a",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd2520",
                    "type": "synonym"
                },
                {
                    "name": "nbce1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-256m11.1",
                    "type": "synonym"
                },
                {
                    "name": "slc4a4a",
                    "type": "synonym"
                },
                {
                    "name": "slc4a4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JKC2-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AL80-1",
            "uniprot_ac": "A0A8M3AL80",
            "uniprot_id": "A0A8M3AL80_DANRE",
            "refseq_ac": "XP_009293410",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc4a4b",
                    "type": "recommended"
                },
                {
                    "name": "slc4a4b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AL80-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88343-1",
            "uniprot_ac": "O88343",
            "uniprot_id": "S4A4_MOUSE",
            "refseq_ac": "NP_001129732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic sodium bicarbonate cotransporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/HCO3(-) cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 4",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a4",
                    "type": "recommended"
                },
                {
                    "name": "NBC1",
                    "type": "synonym"
                },
                {
                    "name": "NBC",
                    "type": "synonym"
                },
                {
                    "name": "Nbc1",
                    "type": "synonym"
                },
                {
                    "name": "Nbce1",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a4",
                    "type": "synonym"
                }
            ],
            "record_id": "O88343-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6R1-1",
            "uniprot_ac": "Q9Y6R1",
            "uniprot_id": "S4A4_HUMAN",
            "refseq_ac": "NP_001091954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic sodium bicarbonate cotransporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/HCO3(-) cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 4",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "kNBC1",
                    "type": "synonym"
                },
                {
                    "name": "kidney type Na+/HCO3- cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter, pancreas)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (sodium bicarbonate cotransporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC4A4",
                    "type": "recommended"
                },
                {
                    "name": "HNBC1",
                    "type": "synonym"
                },
                {
                    "name": "KNBC",
                    "type": "synonym"
                },
                {
                    "name": "NBC1",
                    "type": "synonym"
                },
                {
                    "name": "NBC2",
                    "type": "synonym"
                },
                {
                    "name": "NBCE1",
                    "type": "synonym"
                },
                {
                    "name": "NBCe1-A",
                    "type": "synonym"
                },
                {
                    "name": "NBCe1",
                    "type": "synonym"
                },
                {
                    "name": "NBC",
                    "type": "synonym"
                },
                {
                    "name": "PRTAO",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A4",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A5",
                    "type": "synonym"
                },
                {
                    "name": "hhNMC",
                    "type": "synonym"
                },
                {
                    "name": "kNBC1",
                    "type": "synonym"
                },
                {
                    "name": "pNBC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6R1-1",
            "evidence": [
                {
                    "id": "604278",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604278"
                },
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53838-1",
            "uniprot_ac": "P53838",
            "uniprot_id": "BOR1_YEAST",
            "refseq_ac": "NP_014124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Boron transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Bor1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOR1",
                    "type": "recommended"
                },
                {
                    "name": "BOR1",
                    "type": "synonym"
                },
                {
                    "name": "N0626",
                    "type": "synonym"
                }
            ],
            "record_id": "P53838-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI66-1",
            "uniprot_ac": "Q9JI66",
            "uniprot_id": "S4A4_RAT",
            "refseq_ac": "NP_445876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic sodium bicarbonate cotransporter 1",
                    "type": "recommended"
                },
                {
                    "name": "NBC-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/HCO3(-) cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na+HCO3- cotransporter 4",
                    "type": "synonym"
                },
                {
                    "name": "Sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 4",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium bicarbonate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium bicarbonate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, sodium bicarbonate cotransporter, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a4",
                    "type": "recommended"
                },
                {
                    "name": "HHNMC",
                    "type": "synonym"
                },
                {
                    "name": "HNBC1",
                    "type": "synonym"
                },
                {
                    "name": "KNBC",
                    "type": "synonym"
                },
                {
                    "name": "NBC2",
                    "type": "synonym"
                },
                {
                    "name": "Nbc1",
                    "type": "synonym"
                },
                {
                    "name": "Nbc4",
                    "type": "synonym"
                },
                {
                    "name": "Nbce1",
                    "type": "synonym"
                },
                {
                    "name": "Nbc",
                    "type": "synonym"
                },
                {
                    "name": "PNBC",
                    "type": "synonym"
                },
                {
                    "name": "Rnbc1",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A5",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI66-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPI3-1",
            "uniprot_ac": "Q8IPI3",
            "uniprot_id": "Q8IPI3_DROME",
            "refseq_ac": "NP_723263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42253-PC",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]-driven anion exchanger 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ndae1-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndae1",
                    "type": "recommended"
                },
                {
                    "name": "153385_at",
                    "type": "synonym"
                },
                {
                    "name": "CG31906",
                    "type": "synonym"
                },
                {
                    "name": "CG42253",
                    "type": "synonym"
                },
                {
                    "name": "CG4675",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42253",
                    "type": "synonym"
                },
                {
                    "name": "NDAE1",
                    "type": "synonym"
                },
                {
                    "name": "Ndae-1",
                    "type": "synonym"
                },
                {
                    "name": "Ndae1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.13",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10316",
                    "type": "synonym"
                },
                {
                    "name": "ndae1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPI3-1",
            "evidence": [
                {
                    "id": "0061195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061195"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061195"
}