{
    "disease_id": "DOID:0110060",
    "recommended_name": {
        "id": "DOID:0110060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110060",
        "name": "amelogenesis imperfecta hypomaturation type 2A2",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20)."
    },
    "synonyms": [
        {
            "id": "DOID:0110060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110060",
            "name": "AI2A2",
            "description": ""
        },
        {
            "id": "DOID:0110060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110060",
            "name": "amelogenesis imperfecta hypomaturation type IIA2",
            "description": ""
        },
        {
            "id": "DOID:0110060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110060",
            "name": "amelogenesis imperfecta type IIA2",
            "description": ""
        },
        {
            "id": "DOID:0110060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110060",
            "name": "amelogenesis imperfecta pigmented hypomaturation type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "amelogenesis imperfecta hypomaturation type 2A2",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene."
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "AI2A2",
            "description": ""
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "MMP20 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "amelogenesis imperfecta caused by mutation in MMP20",
            "description": ""
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "amelogenesis imperfecta, type IIA2",
            "description": ""
        },
        {
            "id": "MONDO:0012926",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "name": "amelogenesis imperfecta, hypomaturation type, IIA2",
            "description": ""
        },
        {
            "id": "MIM:612529",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612529",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A2",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110060",
            "categories": []
        },
        {
            "id": "MONDO:0012926",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012926",
            "categories": []
        },
        {
            "id": "MIM:612529",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612529",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YV12-1",
            "uniprot_ac": "A0A8M6YV12",
            "uniprot_id": "A0A8M6YV12_DANRE",
            "refseq_ac": "XP_017206678",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-20",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmp20a",
                    "type": "recommended"
                },
                {
                    "name": "mmp20a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YV12-1",
            "evidence": [
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F3C3-1",
            "uniprot_ac": "E7F3C3",
            "uniprot_id": "E7F3C3_DANRE",
            "refseq_ac": "XP_009290029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-20",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmp20b",
                    "type": "recommended"
                },
                {
                    "name": "mmp20b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F3C3-1",
            "evidence": [
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57748-1",
            "uniprot_ac": "P57748",
            "uniprot_id": "MMP20_MOUSE",
            "refseq_ac": "NP_038931",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-20",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Enamel metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "Enamelysin",
                    "type": "synonym"
                },
                {
                    "name": "MMP-20",
                    "type": "synonym"
                },
                {
                    "name": "enamel metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 20 (enamelysin)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp20",
                    "type": "recommended"
                },
                {
                    "name": "Mmp20",
                    "type": "synonym"
                }
            ],
            "record_id": "P57748-1",
            "evidence": [
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60882-1",
            "uniprot_ac": "O60882",
            "uniprot_id": "MMP20_HUMAN",
            "refseq_ac": "NP_004762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-20",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Enamel metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "Enamelysin",
                    "type": "synonym"
                },
                {
                    "name": "MMP-20",
                    "type": "synonym"
                },
                {
                    "name": "enamel metalloproteinase",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 20 (enamelysin)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMP20",
                    "type": "recommended"
                },
                {
                    "name": "AI2A2",
                    "type": "synonym"
                },
                {
                    "name": "MMP-20",
                    "type": "synonym"
                },
                {
                    "name": "MMP20",
                    "type": "synonym"
                }
            ],
            "record_id": "O60882-1",
            "evidence": [
                {
                    "id": "612529",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612529"
                },
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXD9-1",
            "uniprot_ac": "D3ZXD9",
            "uniprot_id": "D3ZXD9_RAT",
            "refseq_ac": "NP_001100270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metallopeptidase 20",
                    "type": "synonym"
                },
                {
                    "name": "matrix metallopeptidase 20 (enamelysin)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 20 (enamelysin)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20 precursor",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp20",
                    "type": "recommended"
                },
                {
                    "name": "Mmp20",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXD9-1",
            "evidence": [
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MPP3-1",
            "uniprot_ac": "Q8MPP3",
            "uniprot_id": "D2MP_DROME",
            "refseq_ac": "NP_001260830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1794-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dm2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Mmp2-PC",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloprotease 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-2",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloprotinase 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of NA9 2-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp2",
                    "type": "recommended"
                },
                {
                    "name": "2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "CG1794",
                    "type": "synonym"
                },
                {
                    "name": "Dm2-MMP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1794",
                    "type": "synonym"
                },
                {
                    "name": "MMP2",
                    "type": "synonym"
                },
                {
                    "name": "Mmp2",
                    "type": "synonym"
                },
                {
                    "name": "SN2-2",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.84",
                    "type": "synonym"
                },
                {
                    "name": "dMMP2",
                    "type": "synonym"
                },
                {
                    "name": "dm-2MMP",
                    "type": "synonym"
                },
                {
                    "name": "dmmp2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02353",
                    "type": "synonym"
                },
                {
                    "name": "mmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MPP3-1",
            "evidence": [
                {
                    "id": "0110060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110060"
}