{
    "disease_id": "DOID:0060762",
    "recommended_name": {
        "id": "DOID:0060762",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060762",
        "name": "lethal restrictive dermopathy",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060762",
            "name": "hyperkeratosis-contracture syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060762",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060762",
            "name": "tight skin contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "lethal restrictive dermopathy",
            "description": "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities."
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "restrictive dermopathy, lethal",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "hyperkeratosis-contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "fetal hypokinesia sequence due to restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "tight skin contracture syndrome, lethal",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "lethal restrictive dermopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010143",
            "name": "tight skin contracture syndrome",
            "description": ""
        }
    ]
}