{
    "disease_id": "DOID:0081233",
    "recommended_name": {
        "id": "DOID:0081233",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081233",
        "name": "autosomal recessive intellectual developmental disorder 73",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0030533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030533",
            "name": "intellectual developmental disorder, autosomal recessive 73",
            "description": ""
        },
        {
            "id": "MONDO:0030533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030533",
            "name": "MRT73",
            "description": ""
        },
        {
            "id": "MIM:619717",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619717",
            "name": "Intellectual developmental disorder, autosomal recessive 73",
            "description": "Intellectual developmental disorder, autosomal recessive 73"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081233"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081233",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081233",
            "categories": []
        },
        {
            "id": "MONDO:0030533",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030533",
            "categories": []
        },
        {
            "id": "MIM:619717",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619717",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q58ED9-1",
            "uniprot_ac": "Q58ED9",
            "uniprot_id": "NAA20_DANRE",
            "refseq_ac": "NP_001014351",
            "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 20",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "Methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAA20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "NatB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "NatB complex subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "natB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "natB complex subunit NAT5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "naa20",
                    "type": "recommended"
                },
                {
                    "name": "im:7150897",
                    "type": "synonym"
                },
                {
                    "name": "naa20",
                    "type": "synonym"
                },
                {
                    "name": "nat5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110819",
                    "type": "synonym"
                }
            ],
            "record_id": "Q58ED9-1",
            "evidence": [
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61600-1",
            "uniprot_ac": "P61600",
            "uniprot_id": "NAA20_MOUSE",
            "refseq_ac": "NP_001135437",
            "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 20",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "Methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 20 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAA20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "NatB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "NatB complex subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "natB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "natB complex subunit NAT5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa20",
                    "type": "recommended"
                },
                {
                    "name": "1500004D14Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900026I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "D2Ertd186e",
                    "type": "synonym"
                },
                {
                    "name": "Naa20",
                    "type": "synonym"
                },
                {
                    "name": "Nat5",
                    "type": "synonym"
                }
            ],
            "record_id": "P61600-1",
            "evidence": [
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61599-1",
            "uniprot_ac": "P61599",
            "uniprot_id": "NAA20_HUMAN",
            "refseq_ac": "NP_057184",
            "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 20",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "Methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5 (GCN5-related, putative)",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 20 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAA20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NatB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "NatB complex subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "natB catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "natB complex subunit NAT5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAA20",
                    "type": "recommended"
                },
                {
                    "name": "MRT73",
                    "type": "synonym"
                },
                {
                    "name": "NAA20",
                    "type": "synonym"
                },
                {
                    "name": "NAT3P",
                    "type": "synonym"
                },
                {
                    "name": "NAT3",
                    "type": "synonym"
                },
                {
                    "name": "NAT5P",
                    "type": "synonym"
                },
                {
                    "name": "NAT5",
                    "type": "synonym"
                },
                {
                    "name": "dJ1002M8.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61599-1",
            "evidence": [
                {
                    "id": "619717",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619717"
                },
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06504-1",
            "uniprot_ac": "Q06504",
            "uniprot_id": "NAT3_YEAST",
            "refseq_ac": "NP_015456",
            "glycoprotein": "yes",
            "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 B complex catalytic subunit NAT3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "NatB Nalpha terminal acetyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "NatB complex subunit NAT3",
                    "type": "synonym"
                },
                {
                    "name": "peptide alpha-N-acetyltransferase complex B subunit NAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAT3",
                    "type": "recommended"
                },
                {
                    "name": "NAA20",
                    "type": "synonym"
                },
                {
                    "name": "NAT3",
                    "type": "synonym"
                },
                {
                    "name": "RAD56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06504-1",
            "evidence": [
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RZ44-1",
            "uniprot_ac": "B2RZ44",
            "uniprot_id": "B2RZ44_RAT",
            "refseq_ac": "NP_001421284",
            "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 20",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "Methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 20 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAA20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "NatB catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa20",
                    "type": "recommended"
                },
                {
                    "name": "Naa20",
                    "type": "synonym"
                },
                {
                    "name": "Nat5",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RZ44-1",
            "evidence": [
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI14-1",
            "uniprot_ac": "M9PI14",
            "uniprot_id": "M9PI14_DROME",
            "refseq_ac": "NP_001259714",
            "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-alpha-acetyltransferase 20",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.254",
                    "type": "synonym"
                },
                {
                    "name": "CG14222-PB",
                    "type": "synonym"
                },
                {
                    "name": "Methionine N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 20 A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "N(alpha)-acetyltransferase 20",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAA20",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase B complex catalytic subunit NAT5",
                    "type": "synonym"
                },
                {
                    "name": "NAA20 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Naa20A-PB",
                    "type": "synonym"
                },
                {
                    "name": "NatB catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Naa20A",
                    "type": "recommended"
                },
                {
                    "name": "CG14222",
                    "type": "synonym"
                },
                {
                    "name": "DmAAF48987",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14222",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14222",
                    "type": "synonym"
                },
                {
                    "name": "NAA20",
                    "type": "synonym"
                },
                {
                    "name": "Naa20A",
                    "type": "synonym"
                },
                {
                    "name": "Naa20",
                    "type": "synonym"
                },
                {
                    "name": "dNAA20",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI14-1",
            "evidence": [
                {
                    "id": "0081233",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081233"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081233"
}