{
    "disease_id": "DOID:0081332",
    "recommended_name": {
        "id": "DOID:0081332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081332",
        "name": "progeroid syndrome",
        "description": "A syndrome that is characterized by the premature onset of age-related pathologies."
    },
    "synonyms": [
        {
            "id": "DOID:0081332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081332",
            "name": "progeroid disease",
            "description": ""
        },
        {
            "id": "DOID:0081332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081332",
            "name": "progeroid syndromes",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "Hutchinson-Gilford progeria syndrome",
            "description": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)."
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "progeria",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "HGPS",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "Hutchinson-Gilford disease",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "Hutchinson-Gilford progeria",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "Hutchinson-Gilford progeria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "premature senility syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "name": "Hutchinson Gilford progeria syndrome",
            "description": ""
        },
        {
            "id": "MIM:176670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176670",
            "name": "Hutchinson-Gilford progeria syndrome",
            "description": "Hutchinson-Gilford progeria syndrome"
        }
    ],
    "children": [
        {
            "id": "DOID:0051067",
            "label": "Fontaine progeroid syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060590",
            "label": "XFE progeroid syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081333",
            "label": "Wiedemann-Rautenstrauch syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081334",
            "label": "Nestor-Guillermo progeria syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:3911",
            "label": "progeria",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:5688",
            "label": "Werner syndrome",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060590",
        "DOID:0081333",
        "DOID:5688",
        "DOID:3911",
        "DOID:0051067",
        "DOID:0081332",
        "DOID:0081334"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081332",
            "categories": []
        },
        {
            "id": "MONDO:0008310",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008310",
            "categories": []
        },
        {
            "id": "MIM:176670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P02545-1",
            "uniprot_ac": "P02545",
            "uniprot_id": "LMNA_HUMAN",
            "refseq_ac": "NP_001244303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                },
                {
                    "name": "70 kDa lamin",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "lamin A/C-like 1",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin isoform D",
                    "type": "synonym"
                },
                {
                    "name": "mandibuloacral dysplasia type A",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C",
                    "type": "synonym"
                },
                {
                    "name": "progerin",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMNA",
                    "type": "recommended"
                },
                {
                    "name": "CDCD1",
                    "type": "synonym"
                },
                {
                    "name": "CDDC",
                    "type": "synonym"
                },
                {
                    "name": "CMD1A",
                    "type": "synonym"
                },
                {
                    "name": "CMT2B1",
                    "type": "synonym"
                },
                {
                    "name": "EMD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD2",
                    "type": "synonym"
                },
                {
                    "name": "FPLD",
                    "type": "synonym"
                },
                {
                    "name": "FPL",
                    "type": "synonym"
                },
                {
                    "name": "HGPS",
                    "type": "synonym"
                },
                {
                    "name": "IDC",
                    "type": "synonym"
                },
                {
                    "name": "LDP1",
                    "type": "synonym"
                },
                {
                    "name": "LFP",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1B",
                    "type": "synonym"
                },
                {
                    "name": "LMN1",
                    "type": "synonym"
                },
                {
                    "name": "LMNA",
                    "type": "synonym"
                },
                {
                    "name": "LMNC",
                    "type": "synonym"
                },
                {
                    "name": "LMNL1",
                    "type": "synonym"
                },
                {
                    "name": "MADA",
                    "type": "synonym"
                },
                {
                    "name": "PRO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02545-1",
            "evidence": [
                {
                    "id": "176670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176670"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081332"
}