{
    "disease_id": "DOID:0110929",
    "recommended_name": {
        "id": "DOID:0110929",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110929",
        "name": "nemaline myopathy 9",
        "description": "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110929",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110929",
            "name": "NEM9",
            "description": ""
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "nemaline myopathy 9",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene."
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "KLHL41 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "NEM9",
            "description": ""
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "nemaline myopathy 9",
            "description": ""
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "nemaline myopathy caused by mutation in KLHL41",
            "description": ""
        },
        {
            "id": "MONDO:0014326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "name": "nemaline myopathy type 9",
            "description": ""
        },
        {
            "id": "MIM:615731",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615731",
            "name": "Nemaline myopathy 9",
            "description": "Nemaline myopathy 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110929"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110929",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110929",
            "categories": []
        },
        {
            "id": "MONDO:0014326",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014326",
            "categories": []
        },
        {
            "id": "MIM:615731",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615731",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QIN8-1",
            "uniprot_ac": "E9QIN8",
            "uniprot_id": "KL41A_DANRE",
            "refseq_ac": "NP_001410756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 41a",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 10b",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10a",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 10b",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 41a",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 41a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klhl41a",
                    "type": "recommended"
                },
                {
                    "name": "kbtbd10a",
                    "type": "synonym"
                },
                {
                    "name": "klhl41a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-211m23.4",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QIN8-1",
            "evidence": [
                {
                    "id": "0110929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QEG2-1",
            "uniprot_ac": "F1QEG2",
            "uniprot_id": "KL41B_DANRE",
            "refseq_ac": "NP_945330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 41b",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 10b",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10b",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 10b",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 41b",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 41b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klhl41b",
                    "type": "recommended"
                },
                {
                    "name": "cb52",
                    "type": "synonym"
                },
                {
                    "name": "kbtbd10b",
                    "type": "synonym"
                },
                {
                    "name": "kbtbd10",
                    "type": "synonym"
                },
                {
                    "name": "klhl41b",
                    "type": "synonym"
                },
                {
                    "name": "sarcosin",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb52",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb24f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc15e07",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEG2-1",
            "evidence": [
                {
                    "id": "0110929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AUC9-1",
            "uniprot_ac": "A2AUC9",
            "uniprot_id": "KLH41_MOUSE",
            "refseq_ac": "NP_001074556",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 41",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl41",
                    "type": "recommended"
                },
                {
                    "name": "Gm112",
                    "type": "synonym"
                },
                {
                    "name": "Kbtbd10",
                    "type": "synonym"
                },
                {
                    "name": "Klhl41",
                    "type": "synonym"
                },
                {
                    "name": "SARCOSIN",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AUC9-1",
            "evidence": [
                {
                    "id": "0110929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60662-1",
            "uniprot_ac": "O60662",
            "uniprot_id": "KLH41_HUMAN",
            "refseq_ac": "NP_006054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 41",
                    "type": "recommended"
                },
                {
                    "name": "Kel-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Kelch-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sarcosin",
                    "type": "synonym"
                },
                {
                    "name": "kel-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 41",
                    "type": "synonym"
                },
                {
                    "name": "kelch-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric muscle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLHL41",
                    "type": "recommended"
                },
                {
                    "name": "KBTBD10",
                    "type": "synonym"
                },
                {
                    "name": "KLHL41",
                    "type": "synonym"
                },
                {
                    "name": "KRP1",
                    "type": "synonym"
                },
                {
                    "name": "Krp1",
                    "type": "synonym"
                },
                {
                    "name": "SARCOSIN",
                    "type": "synonym"
                }
            ],
            "record_id": "O60662-1",
            "evidence": [
                {
                    "id": "615731",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615731"
                },
                {
                    "id": "0110929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER30-1",
            "uniprot_ac": "Q9ER30",
            "uniprot_id": "KLH41_RAT",
            "refseq_ac": "NP_476539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 41",
                    "type": "recommended"
                },
                {
                    "name": "Kel-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Kelch-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sarcosin",
                    "type": "synonym"
                },
                {
                    "name": "kel-like protein 23",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 41",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 41",
                    "type": "synonym"
                },
                {
                    "name": "kelch-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric muscle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl41",
                    "type": "recommended"
                },
                {
                    "name": "Kbtbd10",
                    "type": "synonym"
                },
                {
                    "name": "Klhl41",
                    "type": "synonym"
                },
                {
                    "name": "Krp1",
                    "type": "synonym"
                },
                {
                    "name": "Sarcosin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER30-1",
            "evidence": [
                {
                    "id": "0110929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110929"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110929"
}