{
    "disease_id": "DOID:2729", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita, autosomal dominant 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "autosomal dominant dyskeratosis congenita 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita, autosomal dominant 1; DKCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita, autosomal dominant type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "DKCA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita, Scoggins type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "autosomal dominant dyskeratosis congenita"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "DKCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007485", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007485", 
            "name": "dyskeratosis congenita Scoggins type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:2729", 
        "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.", 
        "resource": "Disease Ontology", 
        "id": "DOID:2729", 
        "name": "dyskeratosis congenita"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/2729#disease-associations", 
            "id": "2729", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
