{
    "disease_id": "DOID:0111453",
    "recommended_name": {
        "id": "DOID:0111453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111453",
        "name": "2-aminoadipic 2-oxoadipic aciduria",
        "description": "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14."
    },
    "synonyms": [
        {
            "id": "DOID:0111453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111453",
            "name": "AMOXAD",
            "description": ""
        },
        {
            "id": "DOID:0111453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111453",
            "name": "alpha-aminoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "2-aminoadipic 2-oxoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "2-aminoadipic 2-oxoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "AMOXAD",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "Ketoadipicaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "alpha-aminoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "alpha-aminoadipic and alpha-ketoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "2-aminoadipic 2-oxoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "2-aminoadipic 2-oxoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "AMOXAD",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "Ketoadipicaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "alpha-aminoadipic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0008774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "name": "alpha-aminoadipic and alpha-ketoadipic aciduria",
            "description": ""
        },
        {
            "id": "MIM:204750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204750",
            "name": "Alpha-aminoadipic and alpha-ketoadipic aciduria",
            "description": "Alpha-aminoadipic and alpha-ketoadipic aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111453"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111453",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111453",
            "categories": []
        },
        {
            "id": "MONDO:0008774",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008774",
            "categories": []
        },
        {
            "id": "MIM:204750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204750",
            "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": "0111453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111453"
                }
            ]
        },
        {
            "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": "0111453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111453"
                }
            ]
        },
        {
            "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": "204750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/204750"
                },
                {
                    "id": "0111453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111453"
                }
            ]
        },
        {
            "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": "0111453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111453"
                }
            ]
        },
        {
            "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": "0111453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111453"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111453"
}