{
    "disease_id": "DOID:0110058",
    "recommended_name": {
        "id": "DOID:0110058",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0110058",
            "name": "AIH1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110058",
            "name": "X-linked amelogenesis imperfecta 1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110058",
            "name": "amelogenesis imperfecta type IE",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110058",
            "name": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1",
            "description": ""
        },
        {
            "id": "DOID:0110058",
            "resource": "Disease Ontology",
            "url": "http://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": "amelogenesis imperfecta, type IE; AI1E",
            "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, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "X-linked enamel hypoplasia",
            "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": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "amelogenesis imperfecta hypomaturationtype with snow-capped teeth",
            "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 1E",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 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": "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010521",
            "name": "enamel hypoplasia X-linked",
            "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": "X-linked amelogenesis imperfecta 1",
            "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": "AMELX amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:301200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301200",
            "name": "Amelogenesis imperfecta 1E",
            "description": "Amelogenesis imperfecta 1E"
        }
    ]
}