{
    "disease_id": "DOID:0110203",
    "recommended_name": {
        "id": "DOID:0110203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110203",
        "name": "Charcot-Marie-Tooth disease recessive intermediate D",
        "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110203",
            "name": "CMTRID",
            "description": ""
        },
        {
            "id": "DOID:0110203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110203",
            "name": "RI-CMT type D",
            "description": ""
        },
        {
            "id": "DOID:0110203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110203",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type D",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "Charcot-Marie-Tooth disease recessive intermediate D",
            "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene."
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "CMTRID",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "COX6A1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "Charcot-Marie-Tooth disease caused by mutation in COX6A1",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "Charcot-Marie-Tooth disease recessive intermediate type D",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "Charcot-Marie-Tooth disease, recessive Intermediate type D",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "RI-CMT type D",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease type D",
            "description": ""
        },
        {
            "id": "MONDO:0014467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate D",
            "description": ""
        },
        {
            "id": "MIM:616039",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616039",
            "name": "Charcot-Marie-Tooth disease, recessive intermediate D",
            "description": "Charcot-Marie-Tooth disease, recessive intermediate D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110203",
            "categories": []
        },
        {
            "id": "MONDO:0014467",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014467",
            "categories": []
        },
        {
            "id": "MIM:616039",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616039",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P43024-1",
            "uniprot_ac": "P43024",
            "uniprot_id": "CX6A1_MOUSE",
            "refseq_ac": "NP_031774",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "subunit VIaL (liver-type)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6a1",
                    "type": "recommended"
                },
                {
                    "name": "Cox6a1",
                    "type": "synonym"
                },
                {
                    "name": "Cox6al",
                    "type": "synonym"
                },
                {
                    "name": "VIaL",
                    "type": "synonym"
                }
            ],
            "record_id": "P43024-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12074-1",
            "uniprot_ac": "P12074",
            "uniprot_id": "CX6A1_HUMAN",
            "refseq_ac": "NP_004364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX VIa-L",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIA-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome C oxidase subunit VIa homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIA-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa liver isoform",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6A1",
                    "type": "recommended"
                },
                {
                    "name": "CMTRID",
                    "type": "synonym"
                },
                {
                    "name": "COX6A1",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL",
                    "type": "synonym"
                },
                {
                    "name": "COX6A",
                    "type": "synonym"
                }
            ],
            "record_id": "P12074-1",
            "evidence": [
                {
                    "id": "616039",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616039"
                },
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32799-1",
            "uniprot_ac": "P32799",
            "uniprot_id": "COX13_YEAST",
            "refseq_ac": "NP_011324",
            "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": "Cytochrome c oxidase subunit 13, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX13",
                    "type": "recommended"
                },
                {
                    "name": "COX13",
                    "type": "synonym"
                },
                {
                    "name": "G1341",
                    "type": "synonym"
                }
            ],
            "record_id": "P32799-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10818-1",
            "uniprot_ac": "P10818",
            "uniprot_id": "CX6A1_RAT",
            "refseq_ac": "NP_036946",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIa (liver)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-liver",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit VIa, polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6a1",
                    "type": "recommended"
                },
                {
                    "name": "COX6AL",
                    "type": "synonym"
                },
                {
                    "name": "Cox6a1",
                    "type": "synonym"
                },
                {
                    "name": "Cox6al",
                    "type": "synonym"
                }
            ],
            "record_id": "P10818-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48442-1",
            "uniprot_ac": "P48442",
            "uniprot_id": "CASR_RAT",
            "refseq_ac": "NP_001296567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "CaSR",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid cell calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "RaKCaR",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid Cell calcium-sensing receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casr",
                    "type": "recommended"
                },
                {
                    "name": "Casr",
                    "type": "synonym"
                },
                {
                    "name": "Gprc2a",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Pcar1",
                    "type": "synonym"
                },
                {
                    "name": "RaKCaR",
                    "type": "synonym"
                }
            ],
            "record_id": "P48442-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1N3-1",
            "uniprot_ac": "Q9W1N3",
            "uniprot_id": "Q9W1N3_DROME",
            "refseq_ac": "NP_001286770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17280-PB",
                    "type": "synonym"
                },
                {
                    "name": "Levy, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Levy, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase VIa",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A",
                    "type": "synonym"
                },
                {
                    "name": "levy, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "levy-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "levy",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH03295",
                    "type": "synonym"
                },
                {
                    "name": "CG17280",
                    "type": "synonym"
                },
                {
                    "name": "COX6A",
                    "type": "synonym"
                },
                {
                    "name": "COXD",
                    "type": "synonym"
                },
                {
                    "name": "COXE",
                    "type": "synonym"
                },
                {
                    "name": "Cox6a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17280",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17280",
                    "type": "synonym"
                },
                {
                    "name": "Levy",
                    "type": "synonym"
                },
                {
                    "name": "VIa",
                    "type": "synonym"
                },
                {
                    "name": "levy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1N3-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVU8-1",
            "uniprot_ac": "Q9VVU8",
            "uniprot_id": "Q9VVU8_DROME",
            "refseq_ac": "NP_001246828",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14077-PC",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit 6A-like 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit 6A-like 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A-like 2, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6AL2",
                    "type": "recommended"
                },
                {
                    "name": "CG14077",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14077",
                    "type": "synonym"
                },
                {
                    "name": "VIa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVU8-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16526-1",
            "uniprot_ac": "Q16526",
            "uniprot_id": "CRY1_HUMAN",
            "refseq_ac": "NP_004066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cryptochrome-1",
                    "type": "recommended"
                },
                {
                    "name": "cryptochrome 1 (photolyase-like)",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome circadian clock 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome-1 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRY1",
                    "type": "recommended"
                },
                {
                    "name": "CRY1",
                    "type": "synonym"
                },
                {
                    "name": "DSPD",
                    "type": "synonym"
                },
                {
                    "name": "PHLL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16526-1",
            "evidence": [
                {
                    "id": "0110203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110203"
}