{
    "disease_id": "DOID:0080243",
    "recommended_name": {
        "id": "DOID:0080243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080243",
        "name": "amelogenesis imperfecta type 3B",
        "description": "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0021547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021547",
            "name": "amelogenesis imperfecta type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0021547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021547",
            "name": "AI3B",
            "description": ""
        },
        {
            "id": "MONDO:0021547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021547",
            "name": "amelogenesis imperfecta, type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0021547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021547",
            "name": "amelogenesis imperfecta, type IIIB",
            "description": ""
        },
        {
            "id": "MIM:617607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617607",
            "name": "Amelogenesis imperfecta 3B",
            "description": "Amelogenesis imperfecta 3B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080243"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080243",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080243",
            "categories": []
        },
        {
            "id": "MONDO:0021547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021547",
            "categories": []
        },
        {
            "id": "MIM:617607",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617607",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D3J8-1",
            "uniprot_ac": "Q9D3J8",
            "uniprot_id": "AMTN_MOUSE",
            "refseq_ac": "NP_082069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelotin",
                    "type": "recommended"
                },
                {
                    "name": "amelotin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amtn",
                    "type": "recommended"
                },
                {
                    "name": "5430427O21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Amtn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D3J8-1",
            "evidence": [
                {
                    "id": "0080243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UX39-1",
            "uniprot_ac": "Q6UX39",
            "uniprot_id": "AMTN_HUMAN",
            "refseq_ac": "NP_001273660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelotin",
                    "type": "recommended"
                },
                {
                    "name": "RSTI689",
                    "type": "synonym"
                },
                {
                    "name": "amelotin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMTN",
                    "type": "recommended"
                },
                {
                    "name": "AI3B",
                    "type": "synonym"
                },
                {
                    "name": "AMTN",
                    "type": "synonym"
                },
                {
                    "name": "PRO1329",
                    "type": "synonym"
                },
                {
                    "name": "UNQ689",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UX39-1",
            "evidence": [
                {
                    "id": "617607",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617607"
                },
                {
                    "id": "0080243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3HS82-1",
            "uniprot_ac": "Q3HS82",
            "uniprot_id": "AMTN_RAT",
            "refseq_ac": "NP_001037761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelotin",
                    "type": "recommended"
                },
                {
                    "name": "amelotin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amtn",
                    "type": "recommended"
                },
                {
                    "name": "Amtn",
                    "type": "synonym"
                },
                {
                    "name": "EO-017",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3HS82-1",
            "evidence": [
                {
                    "id": "0080243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080243"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080243"
}