{
    "disease_id": "DOID:0110058",
    "recommended_name": {
        "id": "DOID:0110058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110058",
        "name": "amelogenesis imperfecta type 1E",
        "description": "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX)."
    },
    "synonyms": [
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "name": "AIH1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "name": "X-linked amelogenesis imperfecta 1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "name": "amelogenesis imperfecta type IE",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "name": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "name": "amelogenesis imperfecta hypomaturationtype with snow-capped teeth",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta type 1E",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene."
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "AIH1",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "AMELX amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta caused by mutation in AMELX",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta, type 1E, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "AI1E",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta, type IE",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "enamel hypoplasia X-linked",
            "description": ""
        },
        {
            "id": "MIM:301200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301200",
            "name": "Amelogenesis imperfecta 1E",
            "description": "Amelogenesis imperfecta 1E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110058"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110058",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110058",
            "categories": []
        },
        {
            "id": "MONDO:0010521",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "categories": []
        },
        {
            "id": "MIM:301200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63277-4",
            "uniprot_ac": "P63277",
            "uniprot_id": "AMELX_MOUSE",
            "refseq_ac": "NP_001075447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelogenin, X isoform",
                    "type": "recommended"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich amelogenin peptide",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin, X isoform isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "enamel matrix protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich amelogenin peptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amelx",
                    "type": "recommended"
                },
                {
                    "name": "ALGN",
                    "type": "synonym"
                },
                {
                    "name": "AMGL",
                    "type": "synonym"
                },
                {
                    "name": "AMGX",
                    "type": "synonym"
                },
                {
                    "name": "Amelx",
                    "type": "synonym"
                },
                {
                    "name": "Amel",
                    "type": "synonym"
                },
                {
                    "name": "Amg",
                    "type": "synonym"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc888",
                    "type": "synonym"
                }
            ],
            "record_id": "P63277-4",
            "evidence": [
                {
                    "id": "0110058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99217-1",
            "uniprot_ac": "Q99217",
            "uniprot_id": "AMELX_HUMAN",
            "refseq_ac": "NP_001133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelogenin, X isoform",
                    "type": "recommended"
                },
                {
                    "name": "amelogenin (X chromosome, amelogenesis imperfecta 1)",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin (amelogenesis imperfecta 1, X-linked)",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin, X isoform isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMELX",
                    "type": "recommended"
                },
                {
                    "name": "AI1E",
                    "type": "synonym"
                },
                {
                    "name": "AIH1",
                    "type": "synonym"
                },
                {
                    "name": "ALGN",
                    "type": "synonym"
                },
                {
                    "name": "AMELX",
                    "type": "synonym"
                },
                {
                    "name": "AMGL",
                    "type": "synonym"
                },
                {
                    "name": "AMGX",
                    "type": "synonym"
                },
                {
                    "name": "AMG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99217-1",
            "evidence": [
                {
                    "id": "301200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301200"
                },
                {
                    "id": "0110058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63278-4",
            "uniprot_ac": "P63278",
            "uniprot_id": "AMELX_RAT",
            "refseq_ac": "NP_001258002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelogenin, X isoform",
                    "type": "recommended"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich amelogenin peptide",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin, X isoform isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich amelogenin peptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amelx",
                    "type": "recommended"
                },
                {
                    "name": "Amelx",
                    "type": "synonym"
                },
                {
                    "name": "Amel",
                    "type": "synonym"
                },
                {
                    "name": "Amgx",
                    "type": "synonym"
                },
                {
                    "name": "LRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "P63278-4",
            "evidence": [
                {
                    "id": "0110058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99218-2",
            "uniprot_ac": "Q99218",
            "uniprot_id": "AMELY_HUMAN",
            "refseq_ac": "NP_001134",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amelogenin, Y isoform",
                    "type": "recommended"
                },
                {
                    "name": "amelogenin (Y chromosome)",
                    "type": "synonym"
                },
                {
                    "name": "amelogenin, Y isoform isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMELY",
                    "type": "recommended"
                },
                {
                    "name": "AMELY",
                    "type": "synonym"
                },
                {
                    "name": "AMGL",
                    "type": "synonym"
                },
                {
                    "name": "AMGY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99218-2",
            "evidence": [
                {
                    "id": "0110058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110058"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110058"
}