{
    "disease_id": "DOID:0081446",
    "recommended_name": {
        "id": "DOID:0081446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081446",
        "name": "dimethylglycine dehydrogenase deficiency",
        "description": "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14."
    },
    "synonyms": [
        {
            "id": "DOID:0081446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081446",
            "name": "DMG dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase deficiency",
            "description": "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder."
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMG dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMGDH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "disorder of dimethylglycine dehydrogenase activity",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMGDHD",
            "description": ""
        },
        {
            "id": "MIM:605850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605850",
            "name": "DMGDH deficiency",
            "description": "DMGDH deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081446"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081446",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081446",
            "categories": []
        },
        {
            "id": "MONDO:0011610",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "categories": []
        },
        {
            "id": "MIM:605850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DBT9-1",
            "uniprot_ac": "Q9DBT9",
            "uniprot_id": "M2GD_MOUSE",
            "refseq_ac": "NP_083048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dimethylglycine dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.8.4",
                    "type": "synonym"
                },
                {
                    "name": "ME2GLYDH",
                    "type": "synonym"
                },
                {
                    "name": "dimethylglycine dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dimethylglycine dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmgdh",
                    "type": "recommended"
                },
                {
                    "name": "1200014D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dmgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBT9-1",
            "evidence": [
                {
                    "id": "0081446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI17-1",
            "uniprot_ac": "Q9UI17",
            "uniprot_id": "M2GD_HUMAN",
            "refseq_ac": "NP_037523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dimethylglycine dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.8.4",
                    "type": "synonym"
                },
                {
                    "name": "ME2GLYDH",
                    "type": "synonym"
                },
                {
                    "name": "dimethylglycine dehydrogenase, mitochondrial isoform 1precursor",
                    "type": "synonym"
                },
                {
                    "name": "dimethylglycine dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMGDH",
                    "type": "recommended"
                },
                {
                    "name": "DMGDHD",
                    "type": "synonym"
                },
                {
                    "name": "DMGDH",
                    "type": "synonym"
                },
                {
                    "name": "ME2GLYDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI17-1",
            "evidence": [
                {
                    "id": "605850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605850"
                },
                {
                    "id": "0081446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63342-1",
            "uniprot_ac": "Q63342",
            "uniprot_id": "M2GD_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dimethylglycine dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.5.8.4",
                    "type": "synonym"
                },
                {
                    "name": "ME2GLYDH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmgdh",
                    "type": "recommended"
                }
            ],
            "record_id": "Q63342-1",
            "evidence": [
                {
                    "id": "0081446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081446"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081446"
}