{
    "disease_id": "DOID:0110063",
    "recommended_name": {
        "id": "DOID:0110063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110063",
        "name": "amelogenesis imperfecta hypomaturation type 2A5",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110063",
            "name": "AI2A5",
            "description": ""
        },
        {
            "id": "DOID:0110063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110063",
            "name": "amelogenesis imperfecta hypomaturation type IIA5",
            "description": ""
        },
        {
            "id": "DOID:0110063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110063",
            "name": "amelogenesis imperfecta type IIA5",
            "description": ""
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "amelogenesis imperfecta hypomaturation type 2A5",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene."
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "AI2A5",
            "description": ""
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "SLC24A4 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "amelogenesis imperfecta caused by mutation in SLC24A4",
            "description": ""
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "amelogenesis imperfecta, type IIA5",
            "description": ""
        },
        {
            "id": "MONDO:0014385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "name": "amelogenesis imperfecta, hypomaturation type, IIA5",
            "description": ""
        },
        {
            "id": "MIM:615887",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615887",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A5",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110063",
            "categories": []
        },
        {
            "id": "MONDO:0014385",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014385",
            "categories": []
        },
        {
            "id": "MIM:615887",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615887",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "A0A8M2B5T1",
            "uniprot_id": "A0A8M2B5T1_DANRE",
            "refseq_ac": "XP_005158898",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 4a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc24a4a",
                    "type": "recommended"
                },
                {
                    "name": "slc24a4a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112072",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B5T1-1",
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                    "id": "0110063",
                    "database": "AGR",
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                }
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            "uniprot_ac": "F1QXK9",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Sodium/potassium/calcium exchanger 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc24a4b",
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                },
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            ],
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                }
            ]
        },
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            "uniprot_ac": "Q8CGQ8",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Sodium/potassium/calcium exchanger 4",
                    "type": "recommended"
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                {
                    "name": "K-dependent Na/Ca exchanger NCKX4",
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                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 4",
                    "type": "synonym"
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                {
                    "name": "Solute carrier family 24 member 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 24 member 4",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Slc24a4",
                    "type": "recommended"
                },
                {
                    "name": "A930002M03Rik",
                    "type": "synonym"
                },
                {
                    "name": "NCKX4",
                    "type": "synonym"
                },
                {
                    "name": "Nckx4",
                    "type": "synonym"
                },
                {
                    "name": "Slc24a4",
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                }
            ],
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                    "id": "0110063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NFF2-1",
            "uniprot_ac": "Q8NFF2",
            "uniprot_id": "NCKX4_HUMAN",
            "refseq_ac": "NP_705932",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium/calcium exchanger 4",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/K(+)/Ca(2+)-exchange protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Na/Ca-K exchanger 4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 24 member 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 (sodium/potassium/calcium exchanger), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC24A4",
                    "type": "recommended"
                },
                {
                    "name": "AI2A5",
                    "type": "synonym"
                },
                {
                    "name": "NCKX4",
                    "type": "synonym"
                },
                {
                    "name": "SHEP6",
                    "type": "synonym"
                },
                {
                    "name": "SLC24A4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NFF2-1",
            "evidence": [
                {
                    "id": "615887",
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                    "url": "https://www.omim.org/entry/615887"
                },
                {
                    "id": "0110063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K3S9-1",
            "uniprot_ac": "A0A0G2K3S9",
            "uniprot_id": "A0A0G2K3S9_RAT",
            "refseq_ac": "NP_001388274",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 24 member 4",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/calcium exchanger 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 24 (sodium/potassium/calcium exchanger), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc24a4",
                    "type": "recommended"
                },
                {
                    "name": "Nckx4",
                    "type": "synonym"
                },
                {
                    "name": "Slc24a4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K3S9-1",
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                    "id": "0110063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5LJX8-1",
            "uniprot_ac": "Q5LJX8",
            "uniprot_id": "Q5LJX8_DROME",
            "refseq_ac": "NP_001015261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2893-PF",
                    "type": "synonym"
                },
                {
                    "name": "Zydeco, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "zyd-PF",
                    "type": "synonym"
                },
                {
                    "name": "zydeco, isoform F",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "zyd",
                    "type": "recommended"
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                {
                    "name": "BEST:CK02262",
                    "type": "synonym"
                },
                {
                    "name": "CG2893",
                    "type": "synonym"
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                {
                    "name": "CG40147",
                    "type": "synonym"
                },
                {
                    "name": "CK02262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2893",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2893",
                    "type": "synonym"
                },
                {
                    "name": "Nckx-x",
                    "type": "synonym"
                },
                {
                    "name": "Ncxk-x",
                    "type": "synonym"
                },
                {
                    "name": "zyd",
                    "type": "synonym"
                }
            ],
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                    "id": "0110063",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110063"
}