{
    "disease_id": "DOID:0080095",
    "recommended_name": {
        "id": "DOID:0080095",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080095",
        "name": "myofibrillar myopathy 4",
        "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10."
    },
    "synonyms": [
        {
            "id": "DOID:0080095",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080095",
            "name": "zaspopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "myofibrillar myopathy 4",
            "description": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "LDB3 myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "LDB3-related myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "ZASP-related myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "myofibrillar myopathy (disease) caused by mutation in LDB3",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "myofibrillar myopathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "myopathy, myofibrillar, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "MFM4",
            "description": ""
        },
        {
            "id": "MONDO:0012277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "name": "myopathy, myofibrillar, 4",
            "description": ""
        },
        {
            "id": "MIM:609452",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609452",
            "name": "Myopathy, myofibrillar, 4",
            "description": "Myopathy, myofibrillar, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080095"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080095",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080095",
            "categories": []
        },
        {
            "id": "MONDO:0012277",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012277",
            "categories": []
        },
        {
            "id": "MIM:609452",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609452",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0AB13ABV2",
            "uniprot_id": "A0AB13ABV2_DANRE",
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            "species": [
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                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
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                    "name": "LIM domain-binding protein 3a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM-domain binding factor 3, like",
                    "type": "synonym"
                },
                {
                    "name": "LIM-domain binding factor 3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ldb3a",
                    "type": "recommended"
                },
                {
                    "name": "ZASP",
                    "type": "synonym"
                },
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                    "name": "cypher",
                    "type": "synonym"
                },
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                    "name": "hm:zehn1639",
                    "type": "synonym"
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                },
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                    "name": "ldb3",
                    "type": "synonym"
                },
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                }
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            "evidence": [
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                    "id": "0080095",
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            ]
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                }
            ],
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                    "name": "LIM domain-binding protein 3b isoform X1",
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                    "type": "recommended"
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                },
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                    "name": "ldb3l",
                    "type": "synonym"
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                    "name": "wu:fi31d08",
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                }
            ],
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                    "name": "DKEYP-100D11.1",
                    "type": "synonym"
                },
                {
                    "name": "ENH",
                    "type": "synonym"
                },
                {
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                {
                    "name": "PDZ and LIM domain protein 5a",
                    "type": "synonym"
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                    "name": "pdlim5a",
                    "type": "recommended"
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                {
                    "name": "pdlim5a",
                    "type": "synonym"
                },
                {
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                    "name": "zgc:91978",
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                {
                    "id": "0080095",
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                }
            ]
        },
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            "uniprot_ac": "Q6P7E4",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Danio rerio",
                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
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                }
            ],
            "protein_names": [
                {
                    "name": "PDZ and LIM domain protein 7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "pdlim7",
                    "type": "recommended"
                },
                {
                    "name": "zgc:65907",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85607",
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                {
                    "id": "0080095",
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        },
        {
            "uniprot_canonical_ac": "Q9JKS4-1",
            "uniprot_ac": "Q9JKS4",
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                    "taxid": 10090,
                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "LIM domain-binding protein 3",
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                {
                    "name": "LIM domain-binding protein 3",
                    "type": "synonym"
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                {
                    "name": "PDZ-LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein cypher",
                    "type": "synonym"
                },
                {
                    "name": "Protein oracle",
                    "type": "synonym"
                },
                {
                    "name": "Z-band alternatively spliced PDZ-motif protein",
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                },
                {
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                    "type": "synonym"
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                },
                {
                    "name": "protein cypher",
                    "type": "synonym"
                },
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                    "name": "protein oracle",
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                }
            ],
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                    "name": "Ldb3",
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                {
                    "name": "ZASP",
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                    "id": "0080095",
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            "uniprot_canonical_ac": "Q8CI51-1",
            "uniprot_ac": "Q8CI51",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "PDZ and LIM domain protein 5",
                    "type": "recommended"
                },
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                    "name": "Enigma homolog",
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                },
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                },
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                    "name": "PDZ and LIM domain protein 5 isoform ENH1e",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                    "name": "cardiomyopathy, dilated 1C (autosomal dominant)",
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                    "id": "0080095",
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                {
                    "name": "enigma-like PDZ and LIM domains protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdlim5",
                    "type": "recommended"
                },
                {
                    "name": "Enh1",
                    "type": "synonym"
                },
                {
                    "name": "Enh",
                    "type": "synonym"
                },
                {
                    "name": "Pdlim5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62920-1",
            "evidence": [
                {
                    "id": "0080095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA47-1",
            "uniprot_ac": "A1ZA47",
            "uniprot_id": "ZASP_DROME",
            "refseq_ac": "NP_001027420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ and LIM domain protein Zasp",
                    "type": "recommended"
                },
                {
                    "name": "CG30084-PF",
                    "type": "synonym"
                },
                {
                    "name": "Z band alternatively spliced PDZ-motif containing protein 52",
                    "type": "synonym"
                },
                {
                    "name": "Z band alternatively spliced PDZ-motif protein 52, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Z band alternatively spliced PDZ-motif protein",
                    "type": "synonym"
                },
                {
                    "name": "Z-band-protein-210",
                    "type": "synonym"
                },
                {
                    "name": "Zasp52-PF",
                    "type": "synonym"
                },
                {
                    "name": "tungus",
                    "type": "synonym"
                },
                {
                    "name": "zetalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zasp52",
                    "type": "recommended"
                },
                {
                    "name": "CG12968",
                    "type": "synonym"
                },
                {
                    "name": "CG12969",
                    "type": "synonym"
                },
                {
                    "name": "CG30084",
                    "type": "synonym"
                },
                {
                    "name": "CG8242",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30084",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30084",
                    "type": "synonym"
                },
                {
                    "name": "Z(210)",
                    "type": "synonym"
                },
                {
                    "name": "ZASP52",
                    "type": "synonym"
                },
                {
                    "name": "ZASP",
                    "type": "synonym"
                },
                {
                    "name": "Zasp52",
                    "type": "synonym"
                },
                {
                    "name": "Zasp",
                    "type": "synonym"
                },
                {
                    "name": "Zbp210",
                    "type": "synonym"
                },
                {
                    "name": "dzasp",
                    "type": "synonym"
                },
                {
                    "name": "tun",
                    "type": "synonym"
                },
                {
                    "name": "zasp52",
                    "type": "synonym"
                },
                {
                    "name": "zasp",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZA47-1",
            "evidence": [
                {
                    "id": "0080095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96HC4-1",
            "uniprot_ac": "Q96HC4",
            "uniprot_id": "PDLI5_HUMAN",
            "refseq_ac": "NP_001011515",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ and LIM domain protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Enigma homolog",
                    "type": "synonym"
                },
                {
                    "name": "Enigma-like PDZ and LIM domains protein",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain protein 5 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain protein 5",
                    "type": "synonym"
                },
                {
                    "name": "enigma homolog",
                    "type": "synonym"
                },
                {
                    "name": "enigma-like LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "enigma-like PDZ and LIM domains protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDLIM5",
                    "type": "recommended"
                },
                {
                    "name": "ENH1",
                    "type": "synonym"
                },
                {
                    "name": "ENH",
                    "type": "synonym"
                },
                {
                    "name": "L9",
                    "type": "synonym"
                },
                {
                    "name": "LIM",
                    "type": "synonym"
                },
                {
                    "name": "PDLIM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96HC4-1",
            "evidence": [
                {
                    "id": "0080095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR12-1",
            "uniprot_ac": "Q9NR12",
            "uniprot_id": "PDLI7_HUMAN",
            "refseq_ac": "NP_005442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ and LIM domain protein 7",
                    "type": "recommended"
                },
                {
                    "name": "1110003B01Rik",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "LIM mineralization protein",
                    "type": "synonym"
                },
                {
                    "name": "LMP",
                    "type": "synonym"
                },
                {
                    "name": "Lim mineralization protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain 7 (enigma)",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Protein enigma",
                    "type": "synonym"
                },
                {
                    "name": "protein enigma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDLIM7",
                    "type": "recommended"
                },
                {
                    "name": "ENIGMA",
                    "type": "synonym"
                },
                {
                    "name": "LMP1",
                    "type": "synonym"
                },
                {
                    "name": "LMP3",
                    "type": "synonym"
                },
                {
                    "name": "PDLIM7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR12-1",
            "evidence": [
                {
                    "id": "0080095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080095"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080095"
}