{
    "disease_id": "DOID:0110207",
    "recommended_name": {
        "id": "DOID:0110207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110207",
        "name": "Charcot-Marie-Tooth disease X-linked dominant 6",
        "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0110207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110207",
            "name": "CMT6X",
            "description": ""
        },
        {
            "id": "DOID:0110207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110207",
            "name": "CMTX6",
            "description": ""
        },
        {
            "id": "DOID:0110207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110207",
            "name": "Charcot-Marie-Tooth neuropathy X-linked dominant 6",
            "description": ""
        },
        {
            "id": "DOID:0110207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110207",
            "name": "X-linked Charcot-Marie-Tooth disease type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "Charcot-Marie-Tooth disease X-linked dominant 6",
            "description": "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)."
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "CMTX6",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "Charcot-Marie-Tooth disease X-linked dominant type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "Charcot-Marie-Tooth disease, X-linked dominant, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "X-linked Charcot-Marie-Tooth disease type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "CMT6X",
            "description": ""
        },
        {
            "id": "MONDO:0010479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "name": "Charcot-Marie-Tooth disease, X-linked dominant, 6",
            "description": ""
        },
        {
            "id": "MIM:300905",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300905",
            "name": "Charcot-Marie-Tooth disease, X-linked dominant, 6",
            "description": "Charcot-Marie-Tooth disease, X-linked dominant, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110207"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110207",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110207",
            "categories": []
        },
        {
            "id": "MONDO:0010479",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010479",
            "categories": []
        },
        {
            "id": "MIM:300905",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300905",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QMA3-1",
            "uniprot_ac": "A0A2R8QMA3",
            "uniprot_id": "A0A2R8QMA3_DANRE",
            "refseq_ac": "XP_005162814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.-",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase (acetyl-transferring) kinase isozyme 3, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdk3a",
                    "type": "recommended"
                },
                {
                    "name": "pdk3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QMA3-1",
            "evidence": [
                {
                    "id": "0110207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922H2-1",
            "uniprot_ac": "Q922H2",
            "uniprot_id": "PDK3_MOUSE",
            "refseq_ac": "NP_663605",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase, isozyme 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdk3",
                    "type": "recommended"
                },
                {
                    "name": "2610001M10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pdk3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922H2-1",
            "evidence": [
                {
                    "id": "0110207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15120-1",
            "uniprot_ac": "Q15120",
            "uniprot_id": "PDK3_HUMAN",
            "refseq_ac": "NP_001135858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase, isoenzyme 3",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase, isozyme 3",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDK3",
                    "type": "recommended"
                },
                {
                    "name": "CMTX6",
                    "type": "synonym"
                },
                {
                    "name": "GS1-358P8.4",
                    "type": "synonym"
                },
                {
                    "name": "PDHK3",
                    "type": "synonym"
                },
                {
                    "name": "PDK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15120-1",
            "evidence": [
                {
                    "id": "300905",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300905"
                },
                {
                    "id": "0110207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40530-1",
            "uniprot_ac": "P40530",
            "uniprot_id": "PDK1_YEAST",
            "refseq_ac": "NP_012222",
            "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": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "PDC kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "PDK 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase of PDH protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase [lipoamide]] kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase PKP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKP1",
                    "type": "recommended"
                },
                {
                    "name": "PKP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40530-1",
            "evidence": [
                {
                    "id": "0110207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91622-1",
            "uniprot_ac": "P91622",
            "uniprot_id": "PDK_DROME",
            "refseq_ac": "NP_001246224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "CG8808-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmPDK",
                    "type": "synonym"
                },
                {
                    "name": "Pdk-PC",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdk",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD09837",
                    "type": "synonym"
                },
                {
                    "name": "CG8808",
                    "type": "synonym"
                },
                {
                    "name": "DmPDK",
                    "type": "synonym"
                },
                {
                    "name": "DmPdk",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8808",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8808",
                    "type": "synonym"
                },
                {
                    "name": "PDHK",
                    "type": "synonym"
                },
                {
                    "name": "PDK",
                    "type": "synonym"
                },
                {
                    "name": "Pdk",
                    "type": "synonym"
                },
                {
                    "name": "pdk",
                    "type": "synonym"
                }
            ],
            "record_id": "P91622-1",
            "evidence": [
                {
                    "id": "0110207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110207"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110207"
}