{
    "disease_id": "DOID:0111371",
    "recommended_name": {
        "id": "DOID:0111371",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111371",
        "name": "isolated hyperchlorhidrosis",
        "description": "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111371",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111371",
            "name": "HYCHL",
            "description": ""
        },
        {
            "id": "DOID:0111371",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111371",
            "name": "carbonic anhydrase XII deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007747",
            "name": "isolated hyperchlorhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0007747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007747",
            "name": "hyperchlorhidrosis, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0007747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007747",
            "name": "isolated hyperchlorhidrosis",
            "description": ""
        },
        {
            "id": "MIM:143860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/143860",
            "name": "Hyperchlorhidrosis, isolated",
            "description": "Hyperchlorhidrosis, isolated"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111371"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111371",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111371",
            "categories": []
        },
        {
            "id": "MONDO:0007747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007747",
            "categories": []
        },
        {
            "id": "MIM:143860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/143860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CI85-1",
            "uniprot_ac": "Q8CI85",
            "uniprot_id": "CAH12_MOUSE",
            "refseq_ac": "NP_001293077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase 12",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CA XII",
                    "type": "synonym"
                },
                {
                    "name": "CA-XII",
                    "type": "synonym"
                },
                {
                    "name": "Carbonate dehydratase XII",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase XII",
                    "type": "synonym"
                },
                {
                    "name": "carbonate dehydratase XII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 12 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase XII",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca12",
                    "type": "recommended"
                },
                {
                    "name": "Car12",
                    "type": "recommended"
                },
                {
                    "name": "2310047E01Rik",
                    "type": "synonym"
                },
                {
                    "name": "CA-XII",
                    "type": "synonym"
                },
                {
                    "name": "Ca12",
                    "type": "synonym"
                },
                {
                    "name": "Car12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CI85-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43570-1",
            "uniprot_ac": "O43570",
            "uniprot_id": "CAH12_HUMAN",
            "refseq_ac": "NP_001209",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase 12",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CA-XII",
                    "type": "synonym"
                },
                {
                    "name": "Carbonate dehydratase XII",
                    "type": "synonym"
                },
                {
                    "name": "Carbonic anhydrase XII",
                    "type": "synonym"
                },
                {
                    "name": "Tumor antigen HOM-RCC-3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "carbonate dehydratase XII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 12 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase XII",
                    "type": "synonym"
                },
                {
                    "name": "carbonic dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "tumor antigen HOM-RCC-3.1.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CA12",
                    "type": "recommended"
                },
                {
                    "name": "CA-XII",
                    "type": "synonym"
                },
                {
                    "name": "CA12",
                    "type": "synonym"
                },
                {
                    "name": "CAXII",
                    "type": "synonym"
                },
                {
                    "name": "HsT18816",
                    "type": "synonym"
                },
                {
                    "name": "T18816",
                    "type": "synonym"
                }
            ],
            "record_id": "O43570-1",
            "evidence": [
                {
                    "id": "143860",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/143860"
                },
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FAJ9-1",
            "uniprot_ac": "F7FAJ9",
            "uniprot_id": "F7FAJ9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca12",
                    "type": "recommended"
                },
                {
                    "name": "Car12",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FAJ9-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9Y8-1",
            "uniprot_ac": "Q9V9Y8",
            "uniprot_id": "Q9V9Y8_DROME",
            "refseq_ac": "NP_001097987",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH6-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG3669-PB",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH6",
                    "type": "recommended"
                },
                {
                    "name": "CAH6",
                    "type": "synonym"
                },
                {
                    "name": "CG3669",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3669",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3669",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9Y8-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHX0-1",
            "uniprot_ac": "A0A0B4LHX0",
            "uniprot_id": "A0A0B4LHX0_DROME",
            "refseq_ac": "NP_001287620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH16-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG18672-PC",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 16, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH16",
                    "type": "recommended"
                },
                {
                    "name": "CAH16",
                    "type": "synonym"
                },
                {
                    "name": "CG18672",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18672",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18672",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHX0-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9Y6-1",
            "uniprot_ac": "Q9V9Y6",
            "uniprot_id": "Q9V9Y6_DROME",
            "refseq_ac": "NP_001097988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH5-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG18673-PC",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH5",
                    "type": "recommended"
                },
                {
                    "name": "CAH5",
                    "type": "synonym"
                },
                {
                    "name": "CG18673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18673",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9Y6-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMV4-1",
            "uniprot_ac": "Q8IMV4",
            "uniprot_id": "Q8IMV4_DROME",
            "refseq_ac": "NP_651298",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH4-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG10899-PA",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 4, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH4",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT02719",
                    "type": "synonym"
                },
                {
                    "name": "CAH4",
                    "type": "synonym"
                },
                {
                    "name": "CG10899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10899",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMV4-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB76-1",
            "uniprot_ac": "Q9VB76",
            "uniprot_id": "Q9VB76_DROME",
            "refseq_ac": "NP_651535",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH9-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG6074-PA",
                    "type": "synonym"
                },
                {
                    "name": "caix",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 9",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase IX",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH9",
                    "type": "recommended"
                },
                {
                    "name": "CAH9",
                    "type": "synonym"
                },
                {
                    "name": "CAIX",
                    "type": "synonym"
                },
                {
                    "name": "CG6074",
                    "type": "synonym"
                },
                {
                    "name": "CT19053",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6074",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6074",
                    "type": "synonym"
                },
                {
                    "name": "caix",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VB76-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH26-1",
            "uniprot_ac": "Q9VH26",
            "uniprot_id": "Q9VH26_DROME",
            "refseq_ac": "NP_001287267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbonic anhydrase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CAH7-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG3940-PB",
                    "type": "synonym"
                },
                {
                    "name": "carbonic anhydrase 7, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAH7",
                    "type": "recommended"
                },
                {
                    "name": "CAH7",
                    "type": "synonym"
                },
                {
                    "name": "CG3940",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3940",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3940",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH26-1",
            "evidence": [
                {
                    "id": "0111371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111371"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111371"
}