{
    "disease_id": "DOID:0060762", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "restrictive dermopathy, lethal"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "hyperkeratosis-contracture syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "restrictive dermopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "fetal hypokinesia sequence due to restrictive dermopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "tight skin contracture syndrome, lethal"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010143", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010143", 
            "name": "tight skin contracture syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060762", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060762", 
            "name": "hyperkeratosis-contracture syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060762", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060762", 
            "name": "tight skin contracture syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060762", 
        "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060762", 
        "name": "lethal restrictive dermopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060762#disease-associations", 
            "id": "0060762", 
            "database": "Alliance of Genome Resources"
        }
    ]
}