{
    "disease_id": "DOID:0080233",
    "recommended_name": {
        "id": "DOID:0080233",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080233",
        "name": "autosomal dominant intellectual developmental disorder 50",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080233",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080233",
            "name": "autosomal dominant mental retardation 50",
            "description": ""
        },
        {
            "id": "DOID:0080233",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080233",
            "name": "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "intellectual disability, autosomal dominant 50",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "intellectual disability, autosomal dominant 50",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "MRD50",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "autosomal dominant mental retardation 50",
            "description": ""
        },
        {
            "id": "MONDO:0030916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "name": "mental retardation, autosomal dominant 50",
            "description": ""
        },
        {
            "id": "MIM:617787",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617787",
            "name": "Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities",
            "description": "Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080233"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080233",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080233",
            "categories": []
        },
        {
            "id": "MONDO:0030916",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030916",
            "categories": []
        },
        {
            "id": "MIM:617787",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617787",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QE25-1",
            "uniprot_ac": "F1QE25",
            "uniprot_id": "F1QE25_DANRE",
            "refseq_ac": "NP_956940",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit a",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor-regulated gene 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "naa15a",
                    "type": "recommended"
                },
                {
                    "name": "naa15a",
                    "type": "synonym"
                },
                {
                    "name": "narg1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06f11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66136",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4I9S5-1",
            "uniprot_ac": "A0A0R4I9S5",
            "uniprot_id": "A0A0R4I9S5_DANRE",
            "refseq_ac": "NP_976066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit b",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor-regulated gene 1b",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator tubedown-100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "naa15b",
                    "type": "recommended"
                },
                {
                    "name": "fi31d06",
                    "type": "synonym"
                },
                {
                    "name": "naa15b",
                    "type": "synonym"
                },
                {
                    "name": "narg1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi31d06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4I9S5-1",
            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UM3-1",
            "uniprot_ac": "Q80UM3",
            "uniprot_id": "NAA15_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit",
                    "type": "recommended"
                },
                {
                    "name": "N-terminal acetyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein tubedown-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa15",
                    "type": "recommended"
                },
                {
                    "name": "Narg1",
                    "type": "synonym"
                },
                {
                    "name": "Nat1",
                    "type": "synonym"
                },
                {
                    "name": "Tbdn-1",
                    "type": "synonym"
                },
                {
                    "name": "Tubedown",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UM3-1",
            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXJ9-1",
            "uniprot_ac": "Q9BXJ9",
            "uniprot_id": "NAA15_HUMAN",
            "refseq_ac": "NP_476516",
            "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 15, NatA auxiliary subunit",
                    "type": "recommended"
                },
                {
                    "name": "Gastric cancer antigen Ga19",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor regulated 1",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein tubedown-1",
                    "type": "synonym"
                },
                {
                    "name": "Tbdn100",
                    "type": "synonym"
                },
                {
                    "name": "gastric cancer antigen Ga19",
                    "type": "synonym"
                },
                {
                    "name": "protein tubedown-1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator tubedown-100",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAA15",
                    "type": "recommended"
                },
                {
                    "name": "GA19",
                    "type": "synonym"
                },
                {
                    "name": "Ga19",
                    "type": "synonym"
                },
                {
                    "name": "MRD50",
                    "type": "synonym"
                },
                {
                    "name": "NAA15",
                    "type": "synonym"
                },
                {
                    "name": "NARG1",
                    "type": "synonym"
                },
                {
                    "name": "NAT1P",
                    "type": "synonym"
                },
                {
                    "name": "NATH",
                    "type": "synonym"
                },
                {
                    "name": "TBDN100",
                    "type": "synonym"
                },
                {
                    "name": "TBDN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXJ9-1",
            "evidence": [
                {
                    "id": "617787",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617787"
                },
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12945-1",
            "uniprot_ac": "P12945",
            "uniprot_id": "NAT1_YEAST",
            "refseq_ac": "NP_010244",
            "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 subunit NAT1",
                    "type": "recommended"
                },
                {
                    "name": "Amino-terminal, alpha-amino, acetyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NatA complex subunit NAT1",
                    "type": "synonym"
                },
                {
                    "name": "peptide alpha-N-acetyltransferase complex A subunit NAT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAT1",
                    "type": "recommended"
                },
                {
                    "name": "AAA1",
                    "type": "synonym"
                },
                {
                    "name": "D2720",
                    "type": "synonym"
                },
                {
                    "name": "NAA15",
                    "type": "synonym"
                },
                {
                    "name": "NAT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12945-1",
            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZD89-1",
            "uniprot_ac": "D3ZD89",
            "uniprot_id": "D3ZD89_RAT",
            "refseq_ac": "NP_001101144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N(alpha)-acetyltransferase 15, NatA auxiliary subunit",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor regulated 1",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor-regulated gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa15",
                    "type": "recommended"
                },
                {
                    "name": "Naa15",
                    "type": "synonym"
                },
                {
                    "name": "Narg1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZD89-1",
            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWI2-1",
            "uniprot_ac": "Q9VWI2",
            "uniprot_id": "Q9VWI2_DROME",
            "refseq_ac": "NP_001285439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12202-PB",
                    "type": "synonym"
                },
                {
                    "name": "N(Alpha)-acetyltransferase 15/16, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "N(Alpha)-acetyltransferase 15/16, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 15/16, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 15",
                    "type": "synonym"
                },
                {
                    "name": "NAT1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Naa15-16-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa15-16",
                    "type": "recommended"
                },
                {
                    "name": "16",
                    "type": "synonym"
                },
                {
                    "name": "CG12202",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12202",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12202",
                    "type": "synonym"
                },
                {
                    "name": "NAA15-16",
                    "type": "synonym"
                },
                {
                    "name": "NAT1",
                    "type": "synonym"
                },
                {
                    "name": "Naa15-16",
                    "type": "synonym"
                },
                {
                    "name": "Naa15/16",
                    "type": "synonym"
                },
                {
                    "name": "Naa15",
                    "type": "synonym"
                },
                {
                    "name": "Nat1",
                    "type": "synonym"
                },
                {
                    "name": "dNaa15",
                    "type": "synonym"
                },
                {
                    "name": "dNat1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0311",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWI2-1",
            "evidence": [
                {
                    "id": "0080233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080233"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080233"
}