{
    "disease_id": "DOID:0110640",
    "recommended_name": {
        "id": "DOID:0110640",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110640",
        "name": "congenital muscular dystrophy due to LMNA mutation",
        "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110640",
            "name": "L-CMD",
            "description": ""
        },
        {
            "id": "DOID:0110640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110640",
            "name": "LMNA-related congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110640",
            "name": "congenital muscular dystrophy LMNA-related",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "congenital muscular dystrophy due to LMNA mutation",
            "description": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported."
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "L-CMD",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "LMNA congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "LMNA-related congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "congenital muscular dystrophy caused by mutation in LMNA",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "muscular dystrophy Congenital, LMNA-related",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "muscular dystrophy, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "MDCL",
            "description": ""
        },
        {
            "id": "MONDO:0013178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "name": "muscular dystrophy, congenital, LMNA-related",
            "description": ""
        },
        {
            "id": "MIM:613205",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613205",
            "name": "Muscular dystrophy congenital LMNA-related",
            "description": "Muscular dystrophy congenital LMNA-related"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110640"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110640",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110640",
            "categories": []
        },
        {
            "id": "MONDO:0013178",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013178",
            "categories": []
        },
        {
            "id": "MIM:613205",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613205",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHC4-1",
            "uniprot_ac": "F1QHC4",
            "uniprot_id": "F1QHC4_DANRE",
            "refseq_ac": "XP_005155613",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "lamin-B1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmnb1",
                    "type": "recommended"
                },
                {
                    "name": "fc06g01",
                    "type": "synonym"
                },
                {
                    "name": "lmnb1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06g01",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHC4-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48678-1",
            "uniprot_ac": "P48678",
            "uniprot_id": "LMNA_MOUSE",
            "refseq_ac": "NP_001002011",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin-A/C",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C isoform A precursor",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmna",
                    "type": "recommended"
                },
                {
                    "name": "Dhe",
                    "type": "synonym"
                },
                {
                    "name": "Lmn1",
                    "type": "synonym"
                },
                {
                    "name": "Lmna",
                    "type": "synonym"
                }
            ],
            "record_id": "P48678-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14733-1",
            "uniprot_ac": "P14733",
            "uniprot_id": "LMNB1_MOUSE",
            "refseq_ac": "NP_034851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb1",
                    "type": "recommended"
                },
                {
                    "name": "Lmnb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P14733-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21619-1",
            "uniprot_ac": "P21619",
            "uniprot_id": "LMNB2_MOUSE",
            "refseq_ac": "NP_001334069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B2",
                    "type": "recommended"
                },
                {
                    "name": "lamin B3",
                    "type": "synonym"
                },
                {
                    "name": "lamin-B2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb2",
                    "type": "recommended"
                },
                {
                    "name": "Lmnb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21619-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "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": "613205",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613205"
                },
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48679-1",
            "uniprot_ac": "P48679",
            "uniprot_id": "LMNA_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmna",
                    "type": "recommended"
                },
                {
                    "name": "Lmn1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48679-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70615-1",
            "uniprot_ac": "P70615",
            "uniprot_id": "LMNB1_RAT",
            "refseq_ac": "NP_446357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb1",
                    "type": "recommended"
                },
                {
                    "name": "Lmnb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70615-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZLC1-1",
            "uniprot_ac": "D3ZLC1",
            "uniprot_id": "D3ZLC1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin B2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmnb2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZLC1-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03427-1",
            "uniprot_ac": "Q03427",
            "uniprot_id": "LMNA_DROME",
            "refseq_ac": "NP_523742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-C",
                    "type": "recommended"
                },
                {
                    "name": "CG10119-PA",
                    "type": "synonym"
                },
                {
                    "name": "G intermediate filament",
                    "type": "synonym"
                },
                {
                    "name": "LamC-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-C",
                    "type": "synonym"
                },
                {
                    "name": "LaminC",
                    "type": "synonym"
                },
                {
                    "name": "lamin A",
                    "type": "synonym"
                },
                {
                    "name": "lamin C, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin DmC",
                    "type": "synonym"
                },
                {
                    "name": "pG-IF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LamC",
                    "type": "recommended"
                },
                {
                    "name": "CG10119",
                    "type": "synonym"
                },
                {
                    "name": "DmC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10119",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10119",
                    "type": "synonym"
                },
                {
                    "name": "G-IF",
                    "type": "synonym"
                },
                {
                    "name": "LAMC",
                    "type": "synonym"
                },
                {
                    "name": "LamC",
                    "type": "synonym"
                },
                {
                    "name": "lamC",
                    "type": "synonym"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "pG-IF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03427-1",
            "evidence": [
                {
                    "id": "0110640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08928-1",
            "uniprot_ac": "P08928",
            "uniprot_id": "LMNB_DROME",
            "refseq_ac": "NP_001245892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin",
                    "type": "recommended"
                },
                {
                    "name": "B-type lamin",
                    "type": "synonym"
                },
                {
                    "name": "CG6944-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lam-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lamin Dm0",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B",
                    "type": "synonym"
                },
                {
                    "name": "LaminDm0",
                    "type": "synonym"
                },
                {
                    "name": "Protein enhancer of glrs-klar",
                    "type": "synonym"
                },
                {
                    "name": "Protein misguided",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Lamin",
                    "type": "synonym"
                },
                {
                    "name": "intermediate filament-like lamina",
                    "type": "synonym"
                },
                {
                    "name": "lamin A",
                    "type": "synonym"
                },
                {
                    "name": "lamin B",
                    "type": "synonym"
                },
                {
                    "name": "lamin D[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "lamin D[[m0]]",
                    "type": "synonym"
                },
                {
                    "name": "lamin D[[m]]0",
                    "type": "synonym"
                },
                {
                    "name": "lamin D[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "lamin Dm0",
                    "type": "synonym"
                },
                {
                    "name": "lamin Dm[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "lamin Dmo",
                    "type": "synonym"
                },
                {
                    "name": "lamin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)25Ec",
                    "type": "synonym"
                },
                {
                    "name": "misguided",
                    "type": "synonym"
                },
                {
                    "name": "misrouted",
                    "type": "synonym"
                },
                {
                    "name": "n-lamin",
                    "type": "synonym"
                },
                {
                    "name": "nuclear lamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lam",
                    "type": "recommended"
                },
                {
                    "name": "2459",
                    "type": "synonym"
                },
                {
                    "name": "74/76",
                    "type": "synonym"
                },
                {
                    "name": "CG6944",
                    "type": "synonym"
                },
                {
                    "name": "D5",
                    "type": "synonym"
                },
                {
                    "name": "DM[[O]]",
                    "type": "synonym"
                },
                {
                    "name": "D[[m0]]",
                    "type": "synonym"
                },
                {
                    "name": "Dm(0)",
                    "type": "synonym"
                },
                {
                    "name": "Dm0",
                    "type": "synonym"
                },
                {
                    "name": "Dm1",
                    "type": "synonym"
                },
                {
                    "name": "Dm2",
                    "type": "synonym"
                },
                {
                    "name": "DmLamin",
                    "type": "synonym"
                },
                {
                    "name": "DmO",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[2]]",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[mit]]",
                    "type": "synonym"
                },
                {
                    "name": "Dm[[o]]",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6944",
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                },
                {
                    "name": "Dmo",
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                },
                {
                    "name": "Dm",
                    "type": "synonym"
                },
                {
                    "name": "LAM",
                    "type": "synonym"
                },
                {
                    "name": "Lam Dm0",
                    "type": "synonym"
                },
                {
                    "name": "Lam Dm[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "Lam(Dm0)",
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                },
                {
                    "name": "LamB",
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                },
                {
                    "name": "LamDm0",
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                },
                {
                    "name": "LamDmO",
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                },
                {
                    "name": "LamDm[[0]]",
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                },
                {
                    "name": "LamDm[[o]]",
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                },
                {
                    "name": "LamDm",
                    "type": "synonym"
                },
                {
                    "name": "Lam[[Dm0]]",
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                },
                {
                    "name": "Lamin A",
                    "type": "synonym"
                },
                {
                    "name": "Lamin B",
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                },
                {
                    "name": "Lamin Dm0",
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                },
                {
                    "name": "Lamin Dm[[0]]",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-B1",
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                },
                {
                    "name": "LaminA",
                    "type": "synonym"
                },
                {
                    "name": "LaminB",
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                },
                {
                    "name": "Lam",
                    "type": "synonym"
                },
                {
                    "name": "egk1",
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                },
                {
                    "name": "jf27",
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                },
                {
                    "name": "l(2)04643",
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                },
                {
                    "name": "l(2)25Ec",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gdh-7",
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                },
                {
                    "name": "l(2)gdh7",
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                },
                {
                    "name": "l(2)jf27",
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                },
                {
                    "name": "lamB",
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                {
                    "name": "lamDm0",
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                },
                {
                    "name": "lamDm[[0]]",
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                {
                    "name": "lamin B",
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                },
                {
                    "name": "lamin Dm0",
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                },
                {
                    "name": "lamin DmO",
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                },
                {
                    "name": "lamin Dm[[0]]",
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                },
                {
                    "name": "lamin-B",
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                },
                {
                    "name": "lamin",
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                },
                {
                    "name": "lam",
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                {
                    "name": "misg",
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                {
                    "name": "nlam",
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            ],
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            ],
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                    "name": "epididymis secretory sperm binding protein",
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                    "name": "lamin B3",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110640"
}