{
    "disease_id": "DOID:0110928",
    "recommended_name": {
        "id": "DOID:0110928",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110928",
        "name": "nemaline myopathy 2",
        "description": "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "NEM2",
            "description": ""
        },
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "nemaline myopathy 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "congenital myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy 2",
            "description": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness."
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "NEB nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "NEM2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy caused by mutation in NEB",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy type 2",
            "description": ""
        },
        {
            "id": "MIM:256030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256030",
            "name": "Nemaline myopathy 2",
            "description": "Nemaline myopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110928"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110928",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "categories": []
        },
        {
            "id": "MONDO:0009725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "categories": []
        },
        {
            "id": "MIM:256030",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256030",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GGB3-1",
            "uniprot_ac": "A0AC58GGB3",
            "uniprot_id": "A0AC58GGB3_DANRE",
            "refseq_ac": "XP_073768769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nebulin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nebulin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "neb",
                    "type": "recommended"
                },
                {
                    "name": "neb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GGB3-1",
            "evidence": [
                {
                    "id": "0110928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q1W3-1",
            "uniprot_ac": "E9Q1W3",
            "uniprot_id": "E9Q1W3_MOUSE",
            "refseq_ac": "NP_035019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nebulin",
                    "type": "synonym"
                },
                {
                    "name": "nebulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neb",
                    "type": "recommended"
                },
                {
                    "name": "Neb",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q1W3-1",
            "evidence": [
                {
                    "id": "0110928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20929-2",
            "uniprot_ac": "P20929",
            "uniprot_id": "NEBU_HUMAN",
            "refseq_ac": "NP_001157979",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nebulin",
                    "type": "recommended"
                },
                {
                    "name": "nebulin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEB",
                    "type": "recommended"
                },
                {
                    "name": "AMC6",
                    "type": "synonym"
                },
                {
                    "name": "NEB177D",
                    "type": "synonym"
                },
                {
                    "name": "NEB",
                    "type": "synonym"
                },
                {
                    "name": "NEM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P20929-2",
            "evidence": [
                {
                    "id": "256030",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256030"
                },
                {
                    "id": "0110928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y690-1",
            "uniprot_ac": "A0A8I5Y690",
            "uniprot_id": "A0A8I5Y690_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nebulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neb",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5Y690-1",
            "evidence": [
                {
                    "id": "0110928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110928"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110928"
}