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