{
    "disease_id": "DOID:0110933",
    "recommended_name": {
        "id": "DOID:0110933",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110933",
        "name": "nemaline myopathy 11",
        "description": "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "NEM11",
            "description": ""
        },
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "nemaline myopathy 11, autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "congenital myopathy 24",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN-related myopathy",
            "description": "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions."
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "NEM11",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy 11",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy 11, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy caused by mutation in MYPN",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy type 11",
            "description": ""
        },
        {
            "id": "MIM:617336",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617336",
            "name": "Congenital myopathy 24",
            "description": "Congenital myopathy 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110933"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110933",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "categories": []
        },
        {
            "id": "MONDO:0015023",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "categories": []
        },
        {
            "id": "MIM:617336",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617336",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A9B6-1",
            "uniprot_ac": "A0AB13A9B6",
            "uniprot_id": "A0AB13A9B6_DANRE",
            "refseq_ac": "NP_001352226",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myopalladin",
                    "type": "recommended"
                },
                {
                    "name": "myopalladin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mypn",
                    "type": "recommended"
                },
                {
                    "name": "mypn",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc17a02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9B6-1",
            "evidence": [
                {
                    "id": "0110933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5DTJ9-1",
            "uniprot_ac": "Q5DTJ9",
            "uniprot_id": "MYPN_MOUSE",
            "refseq_ac": "NP_892037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myopalladin",
                    "type": "recommended"
                },
                {
                    "name": "myopalladin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mypn",
                    "type": "recommended"
                },
                {
                    "name": "1110056A04Rik",
                    "type": "synonym"
                },
                {
                    "name": "9830112J03",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4170",
                    "type": "synonym"
                },
                {
                    "name": "Mypn",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4170",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5DTJ9-1",
            "evidence": [
                {
                    "id": "0110933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86TC9-1",
            "uniprot_ac": "Q86TC9",
            "uniprot_id": "MYPN_HUMAN",
            "refseq_ac": "NP_001243196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myopalladin",
                    "type": "recommended"
                },
                {
                    "name": "145 kDa sarcomeric protein",
                    "type": "synonym"
                },
                {
                    "name": "myopalladin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric protein myopalladin, 145 kDa (MYOP)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYPN",
                    "type": "recommended"
                },
                {
                    "name": "CMD1DD",
                    "type": "synonym"
                },
                {
                    "name": "CMH22",
                    "type": "synonym"
                },
                {
                    "name": "CMYO24",
                    "type": "synonym"
                },
                {
                    "name": "CMYP24",
                    "type": "synonym"
                },
                {
                    "name": "MYOP",
                    "type": "synonym"
                },
                {
                    "name": "MYPN",
                    "type": "synonym"
                },
                {
                    "name": "NEM11",
                    "type": "synonym"
                },
                {
                    "name": "RCM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86TC9-1",
            "evidence": [
                {
                    "id": "617336",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617336"
                },
                {
                    "id": "0110933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K046-1",
            "uniprot_ac": "A0A0G2K046",
            "uniprot_id": "A0A0G2K046_RAT",
            "refseq_ac": "NP_001355746",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myopalladin",
                    "type": "recommended"
                },
                {
                    "name": "myopalladin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mypn",
                    "type": "recommended"
                },
                {
                    "name": "Mypn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K046-1",
            "evidence": [
                {
                    "id": "0110933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110933"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110933"
}