{
    "disease_id": "DOID:0110065",
    "recommended_name": {
        "id": "DOID:0110065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110065",
        "name": "amelogenesis imperfecta type 1F",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110065",
            "name": "AI1F",
            "description": ""
        },
        {
            "id": "DOID:0110065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110065",
            "name": "amelogenesis imperfecta hypoplastic type IF",
            "description": ""
        },
        {
            "id": "DOID:0110065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110065",
            "name": "amelogenesis imperfecta type IF",
            "description": ""
        },
        {
            "id": "MONDO:0014560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "name": "amelogenesis imperfecta type 1F",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene."
        },
        {
            "id": "MONDO:0014560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "name": "AI1F",
            "description": ""
        },
        {
            "id": "MONDO:0014560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "name": "AMBN amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0014560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "name": "amelogenesis imperfecta caused by mutation in AMBN",
            "description": ""
        },
        {
            "id": "MONDO:0014560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "name": "amelogenesis imperfecta, type IF",
            "description": ""
        },
        {
            "id": "MIM:616270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616270",
            "name": "Amelogenesis imperfecta 1F",
            "description": "Amelogenesis imperfecta 1F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110065",
            "categories": []
        },
        {
            "id": "MONDO:0014560",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014560",
            "categories": []
        },
        {
            "id": "MIM:616270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55189-1",
            "uniprot_ac": "O55189",
            "uniprot_id": "AMBN_MOUSE",
            "refseq_ac": "NP_033794",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ameloblastin",
                    "type": "recommended"
                },
                {
                    "name": "ameloblastin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ambn",
                    "type": "recommended"
                },
                {
                    "name": "Ambn",
                    "type": "synonym"
                }
            ],
            "record_id": "O55189-1",
            "evidence": [
                {
                    "id": "0110065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NP70-1",
            "uniprot_ac": "Q9NP70",
            "uniprot_id": "AMBN_HUMAN",
            "refseq_ac": "NP_057603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ameloblastin",
                    "type": "recommended"
                },
                {
                    "name": "ameloblastin precursor",
                    "type": "synonym"
                },
                {
                    "name": "enamel matrix protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMBN",
                    "type": "recommended"
                },
                {
                    "name": "AI1F",
                    "type": "synonym"
                },
                {
                    "name": "AMBN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP70-1",
            "evidence": [
                {
                    "id": "616270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616270"
                },
                {
                    "id": "0110065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62840-1",
            "uniprot_ac": "Q62840",
            "uniprot_id": "AMBN_RAT",
            "refseq_ac": "NP_037032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ameloblastin",
                    "type": "recommended"
                },
                {
                    "name": "Amelin",
                    "type": "synonym"
                },
                {
                    "name": "amelin",
                    "type": "synonym"
                },
                {
                    "name": "ameloblastin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ambn",
                    "type": "recommended"
                },
                {
                    "name": "Ambn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62840-1",
            "evidence": [
                {
                    "id": "0110065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110065"
}