{
    "disease_id": "DOID:0112060",
    "recommended_name": {
        "id": "DOID:0112060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112060",
        "name": "Raynaud-Claes syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "name": "MRX15",
            "description": ""
        },
        {
            "id": "DOID:0112060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "name": "MRX49",
            "description": ""
        },
        {
            "id": "DOID:0112060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "name": "MRXSRC",
            "description": ""
        },
        {
            "id": "DOID:0112060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "name": "X-linked mental retardation 15",
            "description": ""
        },
        {
            "id": "DOID:0112060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "name": "X-linked mental retardation 49",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "intellectual disability, X-linked 49",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "CLCN4-related X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "MRX49",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "Raynaud-Claes syndrome, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "intellectual disability, X-linked 15",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "intellectual disability, X-linked 49",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "mental retardation, X-linked 15",
            "description": ""
        },
        {
            "id": "MONDO:0010250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "name": "mental retardation, X-linked 49",
            "description": ""
        },
        {
            "id": "MIM:300114",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300114",
            "name": "Raynaud-Claes syndrome",
            "description": "Raynaud-Claes syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112060",
            "categories": []
        },
        {
            "id": "MONDO:0010250",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010250",
            "categories": []
        },
        {
            "id": "MIM:300114",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300114",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61418-1",
            "uniprot_ac": "Q61418",
            "uniprot_id": "CLCN4_MOUSE",
            "refseq_ac": "NP_035464",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 4-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated chloride channel ClC-4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn4",
                    "type": "recommended"
                },
                {
                    "name": "Clc4-2",
                    "type": "synonym"
                },
                {
                    "name": "Clc4",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4-2",
                    "type": "synonym"
                },
                {
                    "name": "Clcn4",
                    "type": "synonym"
                },
                {
                    "name": "clC-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61418-1",
            "evidence": [
                {
                    "id": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51793-1",
            "uniprot_ac": "P51793",
            "uniprot_id": "CLCN4_HUMAN",
            "refseq_ac": "NP_001243873",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 4",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 4",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 4",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN4",
                    "type": "recommended"
                },
                {
                    "name": "CLC4",
                    "type": "synonym"
                },
                {
                    "name": "CLCN4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4A",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "MRX15",
                    "type": "synonym"
                },
                {
                    "name": "MRX49",
                    "type": "synonym"
                },
                {
                    "name": "MRXSRC",
                    "type": "synonym"
                }
            ],
            "record_id": "P51793-1",
            "evidence": [
                {
                    "id": "300114",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300114"
                },
                {
                    "id": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        },
        {
            "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": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51794-1",
            "uniprot_ac": "P51794",
            "uniprot_id": "CLCN4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 4",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-4",
                    "type": "synonym"
                },
                {
                    "name": "ClC-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn4",
                    "type": "recommended"
                },
                {
                    "name": "Clcn4-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51794-1",
            "evidence": [
                {
                    "id": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29288-1",
            "uniprot_ac": "P29288",
            "uniprot_id": "PPA5_RAT",
            "refseq_ac": "NP_001257818",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tartrate-resistant acid phosphatase type 5",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "TR-AP",
                    "type": "synonym"
                },
                {
                    "name": "Tartrate-resistant acid ATPase",
                    "type": "synonym"
                },
                {
                    "name": "TrATPase",
                    "type": "synonym"
                },
                {
                    "name": "Type 5 acid phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase type V",
                    "type": "synonym"
                },
                {
                    "name": "tartrate-resistant acid ATPase",
                    "type": "synonym"
                },
                {
                    "name": "tartrate-resistant acid phosphatase type 5 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tartrate-resistant acid phosphatase type 5",
                    "type": "synonym"
                },
                {
                    "name": "trATPase",
                    "type": "synonym"
                },
                {
                    "name": "type 5 acid phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acp5",
                    "type": "recommended"
                },
                {
                    "name": "Acp5",
                    "type": "synonym"
                },
                {
                    "name": "TTRRAP",
                    "type": "synonym"
                },
                {
                    "name": "Trap",
                    "type": "synonym"
                }
            ],
            "record_id": "P29288-1",
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                {
                    "id": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUY1-1",
            "uniprot_ac": "Q9VUY1",
            "uniprot_id": "Q9VUY1_DROME",
            "refseq_ac": "NP_001261922",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5284-PD",
                    "type": "synonym"
                },
                {
                    "name": "ClC-c-PD",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel-c, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ClC-c",
                    "type": "recommended"
                },
                {
                    "name": "CG5284",
                    "type": "synonym"
                },
                {
                    "name": "ClC-c",
                    "type": "synonym"
                },
                {
                    "name": "ClCc",
                    "type": "synonym"
                },
                {
                    "name": "Clc-c",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-c",
                    "type": "synonym"
                },
                {
                    "name": "DmClCc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5284",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5284",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0138359.7",
                    "type": "synonym"
                },
                {
                    "name": "clc-c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUY1-1",
            "evidence": [
                {
                    "id": "0112060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112060"
}