{
    "disease_id": "DOID:0080952",
    "recommended_name": {
        "id": "DOID:0080952",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080952",
        "name": "AMED syndrome",
        "description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0080952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080952",
            "name": "AMEDS",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "AMED syndrome, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "AMED syndrome, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "AMEDS",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "AMeD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "aplastic anemia-intellectual disability-dwarfism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030894",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "name": "bone marrow failure syndrome 7, digenic",
            "description": ""
        },
        {
            "id": "MIM:619151",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619151",
            "name": "AMED syndrome, digenic",
            "description": "AMED syndrome, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080952"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080952",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080952",
            "categories": []
        },
        {
            "id": "MONDO:0030894",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030894",
            "categories": []
        },
        {
            "id": "MIM:619151",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619151",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28474-1",
            "uniprot_ac": "P28474",
            "uniprot_id": "ADHX_MOUSE",
            "refseq_ac": "NP_001275507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alcohol dehydrogenase class-3",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.284",
                    "type": "synonym"
                },
                {
                    "name": "ADH-B2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase 5",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase B2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-nitrosoglutathione reductase",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase B2",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-3",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adh5",
                    "type": "recommended"
                },
                {
                    "name": "Adh-2",
                    "type": "synonym"
                },
                {
                    "name": "Adh-5",
                    "type": "synonym"
                },
                {
                    "name": "Adh2",
                    "type": "synonym"
                },
                {
                    "name": "Adh3",
                    "type": "synonym"
                },
                {
                    "name": "Adh5",
                    "type": "synonym"
                },
                {
                    "name": "GSNOR",
                    "type": "synonym"
                }
            ],
            "record_id": "P28474-1",
            "evidence": [
                {
                    "id": "0080952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11766-1",
            "uniprot_ac": "P11766",
            "uniprot_id": "ADHX_HUMAN",
            "refseq_ac": "NP_000662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alcohol dehydrogenase class-3",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.284",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase 5",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase class chi chain",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-nitrosoglutathione reductase",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase (class III), chi polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class chi chain",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-3",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 60p",
                    "type": "synonym"
                },
                {
                    "name": "formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADH5",
                    "type": "recommended"
                },
                {
                    "name": "ADH-3",
                    "type": "synonym"
                },
                {
                    "name": "ADH5",
                    "type": "synonym"
                },
                {
                    "name": "ADHX",
                    "type": "synonym"
                },
                {
                    "name": "AMEDS",
                    "type": "synonym"
                },
                {
                    "name": "BMFS7",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "GSNOR",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-60p",
                    "type": "synonym"
                }
            ],
            "record_id": "P11766-1",
            "evidence": [
                {
                    "id": "619151",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619151"
                },
                {
                    "id": "0080952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05091-1",
            "uniprot_ac": "P05091",
            "uniprot_id": "ALDH2_HUMAN",
            "refseq_ac": "NP_000681",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ALDH class 2",
                    "type": "synonym"
                },
                {
                    "name": "ALDH-E2",
                    "type": "synonym"
                },
                {
                    "name": "ALDHI",
                    "type": "synonym"
                },
                {
                    "name": "acetaldehyde dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase 2 family (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "liver mitochondrial ALDH",
                    "type": "synonym"
                },
                {
                    "name": "nucleus-encoded mitochondrial aldehyde dehydrogenase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH2",
                    "type": "recommended"
                },
                {
                    "name": "ALDH-E2",
                    "type": "synonym"
                },
                {
                    "name": "ALDH2",
                    "type": "synonym"
                },
                {
                    "name": "ALDHI",
                    "type": "synonym"
                },
                {
                    "name": "ALDM",
                    "type": "synonym"
                }
            ],
            "record_id": "P05091-1",
            "evidence": [
                {
                    "id": "619151",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32771-1",
            "uniprot_ac": "P32771",
            "uniprot_id": "FADH_YEAST",
            "refseq_ac": "NP_010113",
            "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": "S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.284",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase SFA",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "FLD",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional alcohol dehydrogenase/S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFA1",
                    "type": "recommended"
                },
                {
                    "name": "ADH5",
                    "type": "synonym"
                },
                {
                    "name": "SFA1",
                    "type": "synonym"
                },
                {
                    "name": "SFA",
                    "type": "synonym"
                }
            ],
            "record_id": "P32771-1",
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                {
                    "id": "0080952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12711-1",
            "uniprot_ac": "P12711",
            "uniprot_id": "ADHX_RAT",
            "refseq_ac": "NP_001119592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alcohol dehydrogenase class-3",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.284",
                    "type": "synonym"
                },
                {
                    "name": "ADH-B2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase 5",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase B2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase B2",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-3",
                    "type": "synonym"
                },
                {
                    "name": "alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "class III alcohol dehydrogenase, chi subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adh4",
                    "type": "recommended"
                },
                {
                    "name": "Adh5",
                    "type": "recommended"
                },
                {
                    "name": "Adh-2",
                    "type": "synonym"
                },
                {
                    "name": "Adh2",
                    "type": "synonym"
                },
                {
                    "name": "Adh5",
                    "type": "synonym"
                }
            ],
            "record_id": "P12711-1",
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                {
                    "id": "0080952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46415-1",
            "uniprot_ac": "P46415",
            "uniprot_id": "ADHX_DROME",
            "refseq_ac": "NP_524310",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alcohol dehydrogenase class-3",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.284",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.73",
                    "type": "synonym"
                },
                {
                    "name": "ADH",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol dehydrogenase class-III",
                    "type": "synonym"
                },
                {
                    "name": "CG6598-PA",
                    "type": "synonym"
                },
                {
                    "name": "FALDH",
                    "type": "synonym"
                },
                {
                    "name": "FDH",
                    "type": "synonym"
                },
                {
                    "name": "Fdh-PA",
                    "type": "synonym"
                },
                {
                    "name": "GSH-FDH",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Octanol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "S-(hydroxymethyl)glutathione dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent formaldehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "octanol dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fdh",
                    "type": "recommended"
                },
                {
                    "name": "ADHX_DROME",
                    "type": "synonym"
                },
                {
                    "name": "ADHX",
                    "type": "synonym"
                },
                {
                    "name": "CG6598",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6598",
                    "type": "synonym"
                },
                {
                    "name": "Fdh",
                    "type": "synonym"
                },
                {
                    "name": "GSNOR",
                    "type": "synonym"
                },
                {
                    "name": "ODH",
                    "type": "synonym"
                },
                {
                    "name": "Odh",
                    "type": "synonym"
                },
                {
                    "name": "fdh",
                    "type": "synonym"
                },
                {
                    "name": "gfd/odh",
                    "type": "synonym"
                },
                {
                    "name": "gfd",
                    "type": "synonym"
                },
                {
                    "name": "odh",
                    "type": "synonym"
                }
            ],
            "record_id": "P46415-1",
            "evidence": [
                {
                    "id": "0080952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080952"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080952"
}