{
    "disease_id": "DOID:0110930",
    "recommended_name": {
        "id": "DOID:0110930",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110930",
        "name": "nemaline myopathy 8",
        "description": "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110930",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110930",
            "name": "NEM8",
            "description": ""
        },
        {
            "id": "DOID:0110930",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110930",
            "name": "nemaline myopathy 8, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "nemaline myopathy 8",
            "description": "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles."
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "KLHL40 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "NEM8",
            "description": ""
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "nemaline myopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "nemaline myopathy caused by mutation in KLHL40",
            "description": ""
        },
        {
            "id": "MONDO:0014138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "name": "nemaline myopathy type 8",
            "description": ""
        },
        {
            "id": "MIM:615348",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615348",
            "name": "Nemaline myopathy 8",
            "description": "Nemaline myopathy 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110930"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110930",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110930",
            "categories": []
        },
        {
            "id": "MONDO:0014138",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014138",
            "categories": []
        },
        {
            "id": "MIM:615348",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615348",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B3DIV9-1",
            "uniprot_ac": "B3DIV9",
            "uniprot_id": "KL40A_DANRE",
            "refseq_ac": "NP_001122154",
            "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 40a",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 5a",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 5a",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 5a",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 40a",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 40a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klhl40a",
                    "type": "recommended"
                },
                {
                    "name": "kbtbd5a",
                    "type": "synonym"
                },
                {
                    "name": "kbtbd5",
                    "type": "synonym"
                },
                {
                    "name": "klhl40a",
                    "type": "synonym"
                }
            ],
            "record_id": "B3DIV9-1",
            "evidence": [
                {
                    "id": "0110930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QJ30-1",
            "uniprot_ac": "E9QJ30",
            "uniprot_id": "KL40B_DANRE",
            "refseq_ac": "",
            "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 40b",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 5b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "klhl40b",
                    "type": "recommended"
                },
                {
                    "name": "kbtbd5b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QJ30-1",
            "evidence": [
                {
                    "id": "0110930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D783-1",
            "uniprot_ac": "Q9D783",
            "uniprot_id": "KLH40_MOUSE",
            "refseq_ac": "NP_082478",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 40",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl40",
                    "type": "recommended"
                },
                {
                    "name": "2310024D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kbtbd5",
                    "type": "synonym"
                },
                {
                    "name": "Klhl40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D783-1",
            "evidence": [
                {
                    "id": "0110930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TBA0-1",
            "uniprot_ac": "Q2TBA0",
            "uniprot_id": "KLH40_HUMAN",
            "refseq_ac": "NP_689606",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like protein 40",
                    "type": "recommended"
                },
                {
                    "name": "Kelch repeat and BTB domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Sarcosynapsin",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 40",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 8",
                    "type": "synonym"
                },
                {
                    "name": "sarcosynapsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLHL40",
                    "type": "recommended"
                },
                {
                    "name": "KBTBD5",
                    "type": "synonym"
                },
                {
                    "name": "KLHL40",
                    "type": "synonym"
                },
                {
                    "name": "NEM8",
                    "type": "synonym"
                },
                {
                    "name": "SRYP",
                    "type": "synonym"
                },
                {
                    "name": "SYRP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TBA0-1",
            "evidence": [
                {
                    "id": "615348",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615348"
                },
                {
                    "id": "0110930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AA43-1",
            "uniprot_ac": "D4AA43",
            "uniprot_id": "D4AA43_RAT",
            "refseq_ac": "NP_001101665",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kelch-like family member 40",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB (POZ) domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch repeat and BTB domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 40",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like protein 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klhl40",
                    "type": "recommended"
                },
                {
                    "name": "Kbtbd5",
                    "type": "synonym"
                },
                {
                    "name": "Klhl40",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AA43-1",
            "evidence": [
                {
                    "id": "0110930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110930"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110930"
}