{
    "disease_id": "DOID:0110057",
    "recommended_name": {
        "id": "DOID:0110057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110057",
        "name": "amelogenesis imperfecta type 2A1",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110057",
            "name": "AI2A1",
            "description": ""
        },
        {
            "id": "DOID:0110057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110057",
            "name": "amelogenesis imperfecta type IIA1",
            "description": ""
        },
        {
            "id": "DOID:0110057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110057",
            "name": "amelogenesis imperfecta pigmented hypomaturation type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta type 2A1",
            "description": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene."
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "AI2A1",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "KLK4 amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta caused by mutation in KLK4",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta, type IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta pigmented hypomaturation type",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta, hypomaturation type, IIA1",
            "description": ""
        },
        {
            "id": "MONDO:0008772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008772",
            "name": "amelogenesis imperfecta, pigmented hypomaturation type, 1",
            "description": ""
        },
        {
            "id": "MIM:204700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204700",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A1",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110057"
    ],
    "unlinked_id_list": []
}