{
    "disease_id": "DOID:0061183",
    "recommended_name": {
        "id": "DOID:0061183",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061183",
        "name": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1",
        "description": "A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0859322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859322",
            "name": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1",
            "description": ""
        },
        {
            "id": "MIM:620138",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620138",
            "name": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1",
            "description": "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061183"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061183",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061183",
            "categories": []
        },
        {
            "id": "MONDO:0859322",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859322",
            "categories": []
        },
        {
            "id": "MIM:620138",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620138",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AYS2-1",
            "uniprot_ac": "A0A8M3AYS2",
            "uniprot_id": "A0A8M3AYS2_DANRE",
            "refseq_ac": "XP_009305329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscular LMNA-interacting protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "muscular LMNA-interacting protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlip",
                    "type": "recommended"
                },
                {
                    "name": "mlip",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AYS2-1",
            "evidence": [
                {
                    "id": "0061183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FW52-3",
            "uniprot_ac": "Q5FW52",
            "uniprot_id": "MLIP_MOUSE",
            "refseq_ac": "NP_081426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscular LMNA-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "CIP",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac Isl1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Muscular-enriched A-type laminin-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac Isl1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "muscular LMNA-interacting protein isoform 32",
                    "type": "synonym"
                },
                {
                    "name": "muscular-enriched A-type laminin-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlip",
                    "type": "recommended"
                },
                {
                    "name": "2310046A06Rik",
                    "type": "synonym"
                },
                {
                    "name": "CIP",
                    "type": "synonym"
                },
                {
                    "name": "Cip",
                    "type": "synonym"
                },
                {
                    "name": "Mlip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FW52-3",
            "evidence": [
                {
                    "id": "0061183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VWP3-3",
            "uniprot_ac": "Q5VWP3",
            "uniprot_id": "MLIP_HUMAN",
            "refseq_ac": "NP_001268675",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscular LMNA-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "CIP",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac Isl1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Muscular-enriched A-type laminin-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac ISL1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "muscle-enriched A-type lamin interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "muscular LMNA-interacting protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscular-enriched A-type laminin-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLIP",
                    "type": "recommended"
                },
                {
                    "name": "C6orf142",
                    "type": "synonym"
                },
                {
                    "name": "CIP",
                    "type": "synonym"
                },
                {
                    "name": "Cip",
                    "type": "synonym"
                },
                {
                    "name": "MLIP",
                    "type": "synonym"
                },
                {
                    "name": "MMCKR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VWP3-3",
            "evidence": [
                {
                    "id": "620138",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620138"
                },
                {
                    "id": "0061183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MK47-4",
            "uniprot_ac": "A0A096MK47",
            "uniprot_id": "MLIP_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": "Muscular LMNA-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "CIP",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac Isl1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlip",
                    "type": "recommended"
                },
                {
                    "name": "Cip",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MK47-4",
            "evidence": [
                {
                    "id": "0061183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061183"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061183"
}