{
    "disease_id": "DOID:0080353",
    "recommended_name": {
        "id": "DOID:0080353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080353",
        "name": "X-linked recessive hypophosphatemic rickets",
        "description": "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22."
    },
    "synonyms": [
        {
            "id": "MONDO:0010358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010358",
            "name": "hypophosphatemic rickets, X-linked recessive",
            "description": "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene."
        },
        {
            "id": "MONDO:0010358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010358",
            "name": "CLCN5 X-linked hypophosphatemic rickets",
            "description": ""
        },
        {
            "id": "MONDO:0010358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010358",
            "name": "X-linked hypophosphatemic rickets caused by mutation in CLCN5",
            "description": ""
        },
        {
            "id": "MONDO:0010358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010358",
            "name": "hypophosphatemic rickets, X-linked recessive",
            "description": ""
        },
        {
            "id": "MIM:300554",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300554",
            "name": "Hypophosphatemic rickets, X-linked recessive",
            "description": "Hypophosphatemic rickets, X-linked recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080353"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080353",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080353",
            "categories": []
        },
        {
            "id": "MONDO:0010358",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010358",
            "categories": []
        },
        {
            "id": "MIM:300554",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300554",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6U5-1",
            "uniprot_ac": "A0ACD6B6U5",
            "uniprot_id": "A0ACD6B6U5_DANRE",
            "refseq_ac": "XP_685762",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn5b",
                    "type": "recommended"
                },
                {
                    "name": "clcn5b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6U5-1",
            "evidence": [
                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X1WEF7-1",
            "uniprot_ac": "X1WEF7",
            "uniprot_id": "X1WEF7_DANRE",
            "refseq_ac": "XP_001920783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn5a",
                    "type": "recommended"
                },
                {
                    "name": "clcn5a",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WEF7-1",
            "evidence": [
                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVD4-1",
            "uniprot_ac": "Q9WVD4",
            "uniprot_id": "CLCN5_MOUSE",
            "refseq_ac": "NP_057900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 4-1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn5",
                    "type": "recommended"
                },
                {
                    "name": "5430408K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "Clc4-1",
                    "type": "synonym"
                },
                {
                    "name": "Clc5",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4-1",
                    "type": "synonym"
                },
                {
                    "name": "Clcn5",
                    "type": "synonym"
                },
                {
                    "name": "D930009B12Rik",
                    "type": "synonym"
                },
                {
                    "name": "DXImx42e",
                    "type": "synonym"
                },
                {
                    "name": "Sfc13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVD4-1",
            "evidence": [
                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51795-2",
            "uniprot_ac": "P51795",
            "uniprot_id": "CLCN5_HUMAN",
            "refseq_ac": "NP_000075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated chloride ion channel CLCN5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN5",
                    "type": "recommended"
                },
                {
                    "name": "CLC5",
                    "type": "synonym"
                },
                {
                    "name": "CLCK2",
                    "type": "synonym"
                },
                {
                    "name": "CLCN5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "DENT1",
                    "type": "synonym"
                },
                {
                    "name": "DENTS",
                    "type": "synonym"
                },
                {
                    "name": "NPHL1",
                    "type": "synonym"
                },
                {
                    "name": "NPHL2",
                    "type": "synonym"
                },
                {
                    "name": "XLRH",
                    "type": "synonym"
                },
                {
                    "name": "XRN",
                    "type": "synonym"
                },
                {
                    "name": "hCIC-K2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51795-2",
            "evidence": [
                {
                    "id": "300554",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300554"
                },
                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37020-1",
            "uniprot_ac": "P37020",
            "uniprot_id": "GEF1_YEAST",
            "refseq_ac": "NP_012574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion/proton exchange transporter GEF1",
                    "type": "recommended"
                },
                {
                    "name": "CLC protein GEF1",
                    "type": "synonym"
                },
                {
                    "name": "ClC-A",
                    "type": "synonym"
                },
                {
                    "name": "ClC-Y1",
                    "type": "synonym"
                },
                {
                    "name": "Gef1p",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated chloride channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GEF1",
                    "type": "recommended"
                },
                {
                    "name": "CLCY1",
                    "type": "synonym"
                },
                {
                    "name": "CLC",
                    "type": "synonym"
                },
                {
                    "name": "GEF1",
                    "type": "synonym"
                },
                {
                    "name": "J1616",
                    "type": "synonym"
                }
            ],
            "record_id": "P37020-1",
            "evidence": [
                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51796-1",
            "uniprot_ac": "P51796",
            "uniprot_id": "CLCN5_RAT",
            "refseq_ac": "NP_001401322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 5",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-5",
                    "type": "synonym"
                },
                {
                    "name": "ClC-5",
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                {
                    "name": "H(+)/Cl(-) exchange transporter 5 isoform 1",
                    "type": "synonym"
                },
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                    "name": "chloride channel 5",
                    "type": "synonym"
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                {
                    "name": "chloride channel protein 5",
                    "type": "synonym"
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                {
                    "name": "chloride channel, voltage-sensitive 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-5",
                    "type": "synonym"
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                {
                    "name": "chloride voltage-gated channel 5",
                    "type": "synonym"
                },
                {
                    "name": "clC-5",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 5",
                    "type": "synonym"
                }
            ],
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                    "name": "Clcn5",
                    "type": "recommended"
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                    "name": "CLC5",
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                {
                    "name": "Clcn5",
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                    "id": "0080353",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
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            ]
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            "uniprot_canonical_ac": "P20646-1",
            "uniprot_ac": "P20646",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Prostatic acid phosphatase",
                    "type": "recommended"
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                {
                    "name": "3.1.3.2",
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                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
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                {
                    "name": "3.1.3.5",
                    "type": "synonym"
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                {
                    "name": "5'-NT",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "Acid phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "FRAP",
                    "type": "synonym"
                },
                {
                    "name": "Fluoride-resistant acid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Protein tyrosine phosphatase ACP3",
                    "type": "synonym"
                },
                {
                    "name": "TMPase",
                    "type": "synonym"
                },
                {
                    "name": "Thiamine monophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase, prostate",
                    "type": "synonym"
                },
                {
                    "name": "ecto-5'-nucleotidase",
                    "type": "synonym"
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                {
                    "name": "fluoride-resistant acid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "prostatic acid phosphatase (rPAP)",
                    "type": "synonym"
                },
                {
                    "name": "prostatic acid phosphatase long isoform precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase ACP3",
                    "type": "synonym"
                },
                {
                    "name": "thiamine monophosphatase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Acp3",
                    "type": "recommended"
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                {
                    "name": "5'-NT",
                    "type": "synonym"
                },
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                    "name": "Acp3",
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                {
                    "name": "Acpp11",
                    "type": "synonym"
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                {
                    "name": "Acpp",
                    "type": "synonym"
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                {
                    "name": "FRAP",
                    "type": "synonym"
                },
                {
                    "name": "Ppal",
                    "type": "synonym"
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                {
                    "name": "RNACPP11",
                    "type": "synonym"
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                    "name": "pap",
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                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
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            "uniprot_canonical_ac": "Q9VUY1-1",
            "uniprot_ac": "Q9VUY1",
            "uniprot_id": "Q9VUY1_DROME",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Chloride channel protein",
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                {
                    "name": "CG5284-PD",
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                {
                    "name": "ClC-c-PD",
                    "type": "synonym"
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                {
                    "name": "chloride channel-c, isoform D",
                    "type": "synonym"
                }
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                    "name": "ClC-c",
                    "type": "recommended"
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                    "name": "CG5284",
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                    "name": "ClC-c",
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                    "name": "ClCc",
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                {
                    "name": "Clc-c",
                    "type": "synonym"
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                {
                    "name": "DmClC-c",
                    "type": "synonym"
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                    "name": "DmClCc",
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                    "name": "Dmel\\CG5284",
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                {
                    "name": "Dmel_CG5284",
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                {
                    "name": "anon-WO0138359.7",
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                {
                    "name": "clc-c",
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            ],
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                    "id": "0080353",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
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            "uniprot_canonical_ac": "P46108-1",
            "uniprot_ac": "P46108",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adapter molecule crk",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene c-Crk",
                    "type": "synonym"
                },
                {
                    "name": "adapter molecule crk isoform b",
                    "type": "synonym"
                },
                {
                    "name": "adapter molecule crk",
                    "type": "synonym"
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                {
                    "name": "p38",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Crk",
                    "type": "synonym"
                },
                {
                    "name": "v-crk avian sarcoma virus CT10 oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "v-crk sarcoma virus CT10 oncogene-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRK",
                    "type": "recommended"
                },
                {
                    "name": "CRKII",
                    "type": "synonym"
                },
                {
                    "name": "CRK",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
                }
            ],
            "record_id": "P46108-1",
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                {
                    "id": "0080353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080353"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080353"
}