{
    "disease_id": "DOID:0050781",
    "recommended_name": {
        "id": "DOID:0050781",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050781",
        "name": "Ogden syndrome",
        "description": "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "N-alpha-acetyltransferase",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "N-terminal acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "OGDNS",
            "description": ""
        },
        {
            "id": "DOID:0050781",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "name": "X-linked Malformation and Infantile Lethality Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome",
            "description": "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat."
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N-terminal acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "OGDNS",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Ogden syndrome, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "premature aging appearance-developmental delay-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "Acetyl-CoA:arylamine n-acetyltransferase",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N acetyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "N acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "NAT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "name": "arylamine n-acetyltransferase 1",
            "description": ""
        },
        {
            "id": "MIM:300855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300855",
            "name": "N-terminal acetyltransferase deficiency",
            "description": "N-terminal acetyltransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050781"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050781",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050781",
            "categories": []
        },
        {
            "id": "MONDO:0010457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010457",
            "categories": []
        },
        {
            "id": "MIM:300855",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300855",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QY36-1",
            "uniprot_ac": "Q9QY36",
            "uniprot_id": "NAA10_MOUSE",
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            "glycoprotein": "no",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "ARD1 homolog A, N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 10, NatA catalytic subunitNalpha acetyltransferase 10",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Nalpha acetyltransferase 10",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa10",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetyltransferase 1A",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa10",
                    "type": "recommended"
                },
                {
                    "name": "2310039H09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ard1a",
                    "type": "synonym"
                },
                {
                    "name": "Ard1",
                    "type": "synonym"
                },
                {
                    "name": "Naa10",
                    "type": "synonym"
                },
                {
                    "name": "Te2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY36-1",
            "evidence": [
                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83877-1",
            "uniprot_ac": "P83877",
            "uniprot_id": "TXN4A_MOUSE",
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            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin-like protein 4A",
                    "type": "recommended"
                },
                {
                    "name": "DIM1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "spliceosomal U5 snRNP-specific 15 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like 4",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like U5 snRNP protein U5-15kD",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-like protein 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Txnl4a",
                    "type": "recommended"
                },
                {
                    "name": "D18Wsu98e",
                    "type": "synonym"
                },
                {
                    "name": "Dim1",
                    "type": "synonym"
                },
                {
                    "name": "Txnl4a",
                    "type": "synonym"
                },
                {
                    "name": "Txnl4",
                    "type": "synonym"
                },
                {
                    "name": "U5-15kDa",
                    "type": "synonym"
                },
                {
                    "name": "U5-15kD",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UX61-1",
            "uniprot_ac": "Q3UX61",
            "uniprot_id": "NAA11_MOUSE",
            "refseq_ac": "NP_001028363",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 11",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "ARD1 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 11",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Nalpha acteyltransferase 11",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa11",
                    "type": "synonym"
                },
                {
                    "name": "arrest defective 2",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa11",
                    "type": "recommended"
                },
                {
                    "name": "Ard1b",
                    "type": "synonym"
                },
                {
                    "name": "Ard2",
                    "type": "synonym"
                },
                {
                    "name": "Naa11",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41227-1",
            "uniprot_ac": "P41227",
            "uniprot_id": "NAA10_HUMAN",
            "refseq_ac": "NP_001243048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "ARD1 homolog A, N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase ARD1, human homolog of",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog A",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa10",
                    "type": "synonym"
                },
                {
                    "name": "arrest defective protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hARD1",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia or anophthalmia and associated anomalies",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAA10",
                    "type": "recommended"
                },
                {
                    "name": "ARD1A",
                    "type": "synonym"
                },
                {
                    "name": "ARD1P",
                    "type": "synonym"
                },
                {
                    "name": "ARD1",
                    "type": "synonym"
                },
                {
                    "name": "DXS707",
                    "type": "synonym"
                },
                {
                    "name": "LZMS",
                    "type": "synonym"
                },
                {
                    "name": "MAA",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS1",
                    "type": "synonym"
                },
                {
                    "name": "NAA10",
                    "type": "synonym"
                },
                {
                    "name": "NATD",
                    "type": "synonym"
                },
                {
                    "name": "OGDNS",
                    "type": "synonym"
                },
                {
                    "name": "TE2",
                    "type": "synonym"
                },
                {
                    "name": "hARD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41227-1",
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                {
                    "id": "300855",
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                    "url": "https://www.omim.org/entry/300855"
                },
                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07347-1",
            "uniprot_ac": "P07347",
            "uniprot_id": "ARD1_YEAST",
            "refseq_ac": "NP_011877",
            "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": "N-terminal acetyltransferase A complex catalytic subunit ARD1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "Arrest-defective protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NatA complex subunit ARD1",
                    "type": "synonym"
                },
                {
                    "name": "peptide alpha-N-acetyltransferase complex A subunit ARD1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ARD1",
                    "type": "recommended"
                },
                {
                    "name": "ARD1",
                    "type": "synonym"
                },
                {
                    "name": "NAA10",
                    "type": "synonym"
                }
            ],
            "record_id": "P07347-1",
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                {
                    "id": "0050781",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A9B2-1",
            "uniprot_ac": "A0A8I6A9B2",
            "uniprot_id": "A0A8I6A9B2_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": "N-terminal amino-acid N(alpha)-acetyltransferase NatA",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa10",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0050781",
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                }
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        {
            "uniprot_canonical_ac": "A0A0G2K7P4-1",
            "uniprot_ac": "A0A0G2K7P4",
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                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal amino-acid N(alpha)-acetyltransferase NatA",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Txnl4a",
                    "type": "recommended"
                },
                {
                    "name": "Naa12",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560212",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7P4-1",
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                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
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            "uniprot_canonical_ac": "Q4V8K3-1",
            "uniprot_ac": "Q4V8K3",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "N-alpha-acetyltransferase 11",
                    "type": "recommended"
                },
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                    "name": "2.3.1.255",
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                },
                {
                    "name": "Ard2",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 11",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog B",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa11",
                    "type": "synonym"
                },
                {
                    "name": "alpha-N-acetyltransferase 1B",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa11",
                    "type": "synonym"
                }
            ],
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                    "name": "Naa11",
                    "type": "recommended"
                },
                {
                    "name": "Ard1b",
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                },
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                    "name": "Ard2",
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                },
                {
                    "name": "Naa11",
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            ],
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                    "id": "0050781",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT75-1",
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            "uniprot_id": "Q9VT75_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal amino-acid N(alpha)-acetyltransferase NatA",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "Ard1",
                    "type": "synonym"
                },
                {
                    "name": "CG11989-PA",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 10",
                    "type": "synonym"
                },
                {
                    "name": "arrest defective 1",
                    "type": "synonym"
                },
                {
                    "name": "arrest defective1",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 67BDk",
                    "type": "synonym"
                },
                {
                    "name": "variable nurse cells, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "variable nurse cell",
                    "type": "synonym"
                },
                {
                    "name": "vnc-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vnc",
                    "type": "recommended"
                },
                {
                    "name": "11",
                    "type": "synonym"
                },
                {
                    "name": "ARD1",
                    "type": "synonym"
                },
                {
                    "name": "Ard1",
                    "type": "synonym"
                },
                {
                    "name": "CG11989",
                    "type": "synonym"
                },
                {
                    "name": "DmAAF50178",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11989",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11989",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG11989_FBtr0076348_ard1_mORF",
                    "type": "synonym"
                },
                {
                    "name": "NAA10",
                    "type": "synonym"
                },
                {
                    "name": "Naa10/11",
                    "type": "synonym"
                },
                {
                    "name": "Naa10",
                    "type": "synonym"
                },
                {
                    "name": "ard1",
                    "type": "synonym"
                },
                {
                    "name": "dArd1",
                    "type": "synonym"
                },
                {
                    "name": "dNaa10",
                    "type": "synonym"
                },
                {
                    "name": "l(3)67BDk",
                    "type": "synonym"
                },
                {
                    "name": "vnc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT75-1",
            "evidence": [
                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSU3-1",
            "uniprot_ac": "Q9BSU3",
            "uniprot_id": "NAA11_HUMAN",
            "refseq_ac": "NP_116082",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 11",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "=N-terminal acetyltransferase complex ARD1 subunit homolog B",
                    "type": "synonym"
                },
                {
                    "name": "ARD1 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 11",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog B",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa11",
                    "type": "synonym"
                },
                {
                    "name": "hARD2",
                    "type": "synonym"
                },
                {
                    "name": "human arrest defective 2",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAA11",
                    "type": "recommended"
                },
                {
                    "name": "ARD1B",
                    "type": "synonym"
                },
                {
                    "name": "ARD2",
                    "type": "synonym"
                },
                {
                    "name": "NAA11",
                    "type": "synonym"
                },
                {
                    "name": "hARD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BSU3-1",
            "evidence": [
                {
                    "id": "0050781",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050781"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050781"
}
