{
    "disease_id": "DOID:0060945",
    "recommended_name": {
        "id": "DOID:0060945",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060945",
        "name": "amelogenesis imperfecta type 1K",
        "description": "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0031084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031084",
            "name": "amelogenesis imperfecta, IIa 1K",
            "description": ""
        },
        {
            "id": "MONDO:0031084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031084",
            "name": "AI1K",
            "description": ""
        },
        {
            "id": "MONDO:0031084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031084",
            "name": "amelogenesis imperfecta, IIa 1K",
            "description": ""
        },
        {
            "id": "MONDO:0031084",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031084",
            "name": "amelogenesis imperfecta, hypoplastic IIa 1K",
            "description": ""
        },
        {
            "id": "MIM:620104",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620104",
            "name": "Amelogenesis imperfecta 1K",
            "description": "Amelogenesis imperfecta 1K"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060945"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060945",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060945",
            "categories": []
        },
        {
            "id": "MONDO:0031084",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031084",
            "categories": []
        },
        {
            "id": "MIM:620104",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620104",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IPM5-1",
            "uniprot_ac": "A0A0R4IPM5",
            "uniprot_id": "A0A0R4IPM5_DANRE",
            "refseq_ac": "XP_009294533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sp6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sp6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sp6",
                    "type": "recommended"
                },
                {
                    "name": "sp6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77358",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IPM5-1",
            "evidence": [
                {
                    "id": "0060945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESX2-1",
            "uniprot_ac": "Q9ESX2",
            "uniprot_id": "SP6_MOUSE",
            "refseq_ac": "NP_112460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sp6",
                    "type": "recommended"
                },
                {
                    "name": "Epiprofin",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "Sp6 transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "epiprofin",
                    "type": "synonym"
                },
                {
                    "name": "krueppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "specificity protein 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sp6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sp6",
                    "type": "recommended"
                },
                {
                    "name": "1110025J03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Epfn",
                    "type": "synonym"
                },
                {
                    "name": "Klf14",
                    "type": "synonym"
                },
                {
                    "name": "Sp6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESX2-1",
            "evidence": [
                {
                    "id": "0060945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SY56-1",
            "uniprot_ac": "Q3SY56",
            "uniprot_id": "SP6_HUMAN",
            "refseq_ac": "NP_001245177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sp6",
                    "type": "recommended"
                },
                {
                    "name": "Krueppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "krueppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sp6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SP6",
                    "type": "recommended"
                },
                {
                    "name": "AI1K",
                    "type": "synonym"
                },
                {
                    "name": "EPFN",
                    "type": "synonym"
                },
                {
                    "name": "EPIPROFIN",
                    "type": "synonym"
                },
                {
                    "name": "KLF14",
                    "type": "synonym"
                },
                {
                    "name": "SP6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SY56-1",
            "evidence": [
                {
                    "id": "620104",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620104"
                },
                {
                    "id": "0060945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT88-1",
            "uniprot_ac": "D3ZT88",
            "uniprot_id": "D3ZT88_RAT",
            "refseq_ac": "NP_001102303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sp6",
                    "type": "recommended"
                },
                {
                    "name": "Krueppel-like factor 14",
                    "type": "synonym"
                },
                {
                    "name": "trans-acting transcription factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sp6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sp6",
                    "type": "recommended"
                },
                {
                    "name": "Sp6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZT88-1",
            "evidence": [
                {
                    "id": "0060945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060945"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PJG1-1",
            "uniprot_ac": "M9PJG1",
            "uniprot_id": "M9PJG1_DROME",
            "refseq_ac": "NP_001259388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1343-PF",
                    "type": "synonym"
                },
                {
                    "name": "Sp1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Sp1-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sp1",
                    "type": "recommended"
                },
                {
                    "name": "CG1343",
                    "type": "synonym"
                },
                {
                    "name": "D-Sp1",
                    "type": "synonym"
                },
                {
                    "name": "D-Sp8",
                    "type": "synonym"
                },
                {
                    "name": "D.Sp1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1343",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1343",
                    "type": "synonym"
                },
                {
                    "name": "SP1",
                    "type": "synonym"
                },
                {
                    "name": "Sp1",
                    "type": "synonym"
                },
                {
                    "name": "dSp1",
                    "type": "synonym"
                },
                {
                    "name": "sp1",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PJG1-1",
            "evidence": [
                {
                    "id": "0060945",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060945"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060945"
}