{
    "disease_id": "DOID:0080753",
    "recommended_name": {
        "id": "DOID:0080753",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080753",
        "name": "keratosis follicularis spinulosa decalvans",
        "description": "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0080754",
            "label": "X-linked keratosis follicularis spinulosa decalvans",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080754",
        "DOID:0080753"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080753",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080753",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JK38-1",
            "uniprot_ac": "Q9JK38",
            "uniprot_id": "GNA1_MOUSE",
            "refseq_ac": "NP_062298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine transacetylase",
                    "type": "synonym"
                },
                {
                    "name": "Protein EMeg32",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine 6-phosphate N-acetyltransferase isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine 6-phosphate N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine-6-phosphate acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine-phosphate N-acetyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine-phosphate N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucosamine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucosamine transacetylase",
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                }
            ],
            "gene_names": [
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                    "name": "Gnpnat1",
                    "type": "recommended"
                },
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                    "name": "EMeg32",
                    "type": "synonym"
                },
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                    "name": "Gna1",
                    "type": "synonym"
                },
                {
                    "name": "Gnpnat1",
                    "type": "synonym"
                },
                {
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                    "name": "Gsnpat",
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                }
            ],
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                    "id": "0080753",
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                }
            ]
        },
        {
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            "uniprot_ac": "P43577",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
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                    "name": "2.3.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine acetylase",
                    "type": "synonym"
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                    "name": "Phosphoglucosamine transacetylase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine 6-phosphate N-acetyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNA1",
                    "type": "recommended"
                },
                {
                    "name": "GNA1",
                    "type": "synonym"
                },
                {
                    "name": "PAT1",
                    "type": "synonym"
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                {
                    "id": "0080753",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080753"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AKF3-1",
            "uniprot_ac": "A0A8I6AKF3",
            "uniprot_id": "A0A8I6AKF3_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": "Glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnpnat1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AKF3-1",
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                {
                    "id": "0080753",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080753"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y6Y7-1",
            "uniprot_ac": "A0A8I5Y6Y7",
            "uniprot_id": "A0A8I5Y6Y7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07059877.1",
                    "type": "recommended"
                },
                {
                    "name": "Gnpnat1-ps1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y6Y7-1",
            "evidence": [
                {
                    "id": "0080753",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080753"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAI0-1",
            "uniprot_ac": "Q9VAI0",
            "uniprot_id": "GNA1_DROME",
            "refseq_ac": "NP_651719",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG1969-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glucosamine-phosphate N-acetyltransferase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Gnpnat-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine transacetylase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine-phosphate N-acetyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnpnat",
                    "type": "recommended"
                },
                {
                    "name": "CG1969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1969",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1969",
                    "type": "synonym"
                },
                {
                    "name": "GNPNAT",
                    "type": "synonym"
                },
                {
                    "name": "Gnpnat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAI0-1",
            "evidence": [
                {
                    "id": "0080753",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080753"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EK6-1",
            "uniprot_ac": "Q96EK6",
            "uniprot_id": "GNA1_HUMAN",
            "refseq_ac": "NP_932332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosamine 6-phosphate N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucosamine transacetylase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine 6-phosphate N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucosamine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucosamine transacetylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNPNAT1",
                    "type": "recommended"
                },
                {
                    "name": "GNA1",
                    "type": "synonym"
                },
                {
                    "name": "GNPNAT1",
                    "type": "synonym"
                },
                {
                    "name": "GNPNAT",
                    "type": "synonym"
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                {
                    "name": "Gpnat1",
                    "type": "synonym"
                },
                {
                    "name": "RHZDAN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EK6-1",
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                {
                    "id": "0080753",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080753"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080753"
}