{
    "disease_id": "DOID:0110170",
    "recommended_name": {
        "id": "DOID:0110170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110170",
        "name": "Charcot-Marie-Tooth disease axonal type 2Q",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."
    },
    "synonyms": [
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110170",
            "name": "CMT2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110170",
            "name": "Charcot-Marie-Tooth neuropathy type 2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110170",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "DOID:0110170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110170",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease axonal type 2Q",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment."
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "CMT2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease caused by mutation in DHTKD1",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "DHTKD1 Charcot-Marie-Tooth disease",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease type 2Q",
            "description": ""
        },
        {
            "id": "MONDO:0014012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2Q",
            "description": ""
        },
        {
            "id": "MIM:615025",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615025",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2Q",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2Q"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110170"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110170",
            "categories": []
        },
        {
            "id": "MONDO:0014012",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014012",
            "categories": []
        },
        {
            "id": "MIM:615025",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615025",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5PRA2-1",
            "uniprot_ac": "Q5PRA2",
            "uniprot_id": "DHTK1_DANRE",
            "refseq_ac": "NP_001008619",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.-",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dhtkd1",
                    "type": "recommended"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "dhtkd1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101818",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PRA2-1",
            "evidence": [
                {
                    "id": "0110170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ATU0-1",
            "uniprot_ac": "A2ATU0",
            "uniprot_id": "DHTK1_MOUSE",
            "refseq_ac": "NP_001074600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.-",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhtkd1",
                    "type": "recommended"
                },
                {
                    "name": "C330018I04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dhtkd1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1630",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ATU0-1",
            "evidence": [
                {
                    "id": "0110170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96HY7-1",
            "uniprot_ac": "Q96HY7",
            "uniprot_id": "DHTK1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.-",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHTKD1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1630",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96HY7-1",
            "evidence": [
                {
                    "id": "615025",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615025"
                },
                {
                    "id": "0110170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLP0-1",
            "uniprot_ac": "Q4KLP0",
            "uniprot_id": "DHTK1_RAT",
            "refseq_ac": "NP_001020891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.-",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase complex component E1",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoadipate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KADH-E1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoadipate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "dehydrogenase E1 and transketolase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhtkd1",
                    "type": "recommended"
                },
                {
                    "name": "Dhtkd1",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                },
                {
                    "name": "OADC-E1",
                    "type": "synonym"
                },
                {
                    "name": "OADH-E1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLP0-1",
            "evidence": [
                {
                    "id": "0110170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA02-1",
            "uniprot_ac": "Q9VA02",
            "uniprot_id": "DHTK1_DROME",
            "refseq_ac": "NP_651849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable 2-oxoadipate dehydrogenase complex component E1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1544-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oadh",
                    "type": "recommended"
                },
                {
                    "name": "CG1544",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1544",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA02-1",
            "evidence": [
                {
                    "id": "0110170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110170"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110170"
}