{
    "disease_id": "DOID:0080953",
    "recommended_name": {
        "id": "DOID:0080953",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080953",
        "name": "amelogenesis imperfecta type 1J",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080953",
            "name": "Amelogenesis imperfecta, type IJ",
            "description": ""
        },
        {
            "id": "MONDO:0015008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015008",
            "name": "amelogenesis imperfecta, type 1J",
            "description": ""
        },
        {
            "id": "MONDO:0015008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015008",
            "name": "amelogenesis imperfecta, type 1J",
            "description": ""
        },
        {
            "id": "MONDO:0015008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015008",
            "name": "AI1J",
            "description": ""
        },
        {
            "id": "MIM:617297",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617297",
            "name": "Amelogenesis imperfecta 1J",
            "description": "Amelogenesis imperfecta 1J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080953"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080953",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080953",
            "categories": []
        },
        {
            "id": "MONDO:0015008",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015008",
            "categories": []
        },
        {
            "id": "MIM:617297",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617297",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "D3YTS9-1",
            "uniprot_ac": "D3YTS9",
            "uniprot_id": "PPAT_MOUSE",
            "refseq_ac": "NP_001181963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Testicular acid phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Acid phosphatase 4",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase, testicular",
                    "type": "synonym"
                },
                {
                    "name": "testicular acid phosphatase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "testicular acid phosphatase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Acp4",
                    "type": "recommended"
                },
                {
                    "name": "Acp4",
                    "type": "synonym"
                },
                {
                    "name": "Acpt",
                    "type": "synonym"
                },
                {
                    "name": "EG546967",
                    "type": "synonym"
                },
                {
                    "name": "Gm1432",
                    "type": "synonym"
                }
            ],
            "record_id": "D3YTS9-1",
            "evidence": [
                {
                    "id": "0080953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZG2-1",
            "uniprot_ac": "Q9BZG2",
            "uniprot_id": "PPAT_HUMAN",
            "refseq_ac": "NP_149059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Testicular acid phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Acid phosphatase 4",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase, testicular",
                    "type": "synonym"
                },
                {
                    "name": "testicular acid phosphatase precursor",
                    "type": "synonym"
                },
                {
                    "name": "testicular acid phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACP4",
                    "type": "recommended"
                },
                {
                    "name": "ACP4",
                    "type": "synonym"
                },
                {
                    "name": "ACPT",
                    "type": "synonym"
                },
                {
                    "name": "AI1J",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZG2-1",
            "evidence": [
                {
                    "id": "617297",
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                    "url": "https://www.omim.org/entry/617297"
                },
                {
                    "id": "0080953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GH32-1",
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            "uniprot_id": "A0A8I6GH32_RAT",
            "refseq_ac": "NP_001388455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "acid phosphatase",
                    "type": "recommended"
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                    "name": "3.1.3.2",
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                    "name": "acid phosphatase, testicular",
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                {
                    "name": "testicular acid phosphatase isoform 1",
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                    "name": "testicular acid phosphatase",
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                }
            ],
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                {
                    "name": "Acp4",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Acpt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GH32-1",
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                {
                    "id": "0080953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I0P9-1",
            "uniprot_ac": "Q8I0P9",
            "uniprot_id": "Q8I0P9_DROME",
            "refseq_ac": "NP_733332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "acid phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "Acph-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG7899-PB",
                    "type": "synonym"
                },
                {
                    "name": "acid Phosphatase-1",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "acid phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acph-1",
                    "type": "recommended"
                },
                {
                    "name": "ACPH",
                    "type": "synonym"
                },
                {
                    "name": "ACP",
                    "type": "synonym"
                },
                {
                    "name": "APH",
                    "type": "synonym"
                },
                {
                    "name": "Acph-1",
                    "type": "synonym"
                },
                {
                    "name": "Acph",
                    "type": "synonym"
                },
                {
                    "name": "CG7899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7899",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I0P9-1",
            "evidence": [
                {
                    "id": "0080953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z080-1",
            "uniprot_ac": "B7Z080",
            "uniprot_id": "B7Z080_DROME",
            "refseq_ac": "NP_001137976",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9449-PF",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9449",
                    "type": "recommended"
                },
                {
                    "name": "CG9449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9449",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z080-1",
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                {
                    "id": "0080953",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD68-1",
            "uniprot_ac": "Q9VD68",
            "uniprot_id": "Q9VD68_DROME",
            "refseq_ac": "NP_650991",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Acid phosphatase",
                    "type": "recommended"
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                {
                    "name": "CG6656-PA",
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                {
                    "name": "uncharacterized protein",
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                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6656",
                    "type": "recommended"
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                {
                    "name": "CG6656",
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                },
                {
                    "name": "Dmel\\CG6656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6656",
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                }
            ],
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                    "id": "0080953",
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                    "type": "recommended"
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            ],
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                    "name": "Dmel\\CG9452",
                    "type": "recommended"
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                    "name": "CG9452",
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                    "id": "0080953",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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            ],
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                    "name": "Dmel\\CG9451",
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                    "id": "0080953",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080953"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080953"
}
