{
    "disease_id": "DOID:0110326",
    "recommended_name": {
        "id": "DOID:0110326",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110326",
        "name": "hypertrophic cardiomyopathy 20",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110326",
            "name": "CMH20",
            "description": ""
        },
        {
            "id": "DOID:0110326",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110326",
            "name": "cardiomyopathy familial hypertrophic 20",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "hypertrophic cardiomyopathy 20",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene."
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "CMH20",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "NEXN hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "cardiomyopathy, familial hypertrophic, type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "cardiomyopathy, hypertrophic, 20",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "hypertrophic cardiomyopathy caused by mutation in NEXN",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "hypertrophic cardiomyopathy type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "name": "cardiomyopathy, familial hypertrophic, 20",
            "description": ""
        },
        {
            "id": "MIM:613876",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613876",
            "name": "Cardiomyopathy, familial hypertrophic, 20",
            "description": "Cardiomyopathy, familial hypertrophic, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110326"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110326",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110326",
            "categories": []
        },
        {
            "id": "MONDO:0013477",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013477",
            "categories": []
        },
        {
            "id": "MIM:613876",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613876",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G812-1",
            "uniprot_ac": "A0AC58G812",
            "uniprot_id": "A0AC58G812_DANRE",
            "refseq_ac": "XP_073765877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nexilin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nexilin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nexn",
                    "type": "recommended"
                },
                {
                    "name": "nexn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103442",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G812-1",
            "evidence": [
                {
                    "id": "0110326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TPW1-1",
            "uniprot_ac": "Q7TPW1",
            "uniprot_id": "NEXN_MOUSE",
            "refseq_ac": "NP_955759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nexilin",
                    "type": "recommended"
                },
                {
                    "name": "F-actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nF actin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nexilin alpha",
                    "type": "synonym"
                },
                {
                    "name": "nexilin beta",
                    "type": "synonym"
                },
                {
                    "name": "nexilin gamma",
                    "type": "synonym"
                },
                {
                    "name": "nexilin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nexn",
                    "type": "recommended"
                },
                {
                    "name": "1110046H09Rik",
                    "type": "synonym"
                },
                {
                    "name": "NELIN",
                    "type": "synonym"
                },
                {
                    "name": "Nexn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TPW1-1",
            "evidence": [
                {
                    "id": "0110326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0ZGT2-1",
            "uniprot_ac": "Q0ZGT2",
            "uniprot_id": "NEXN_HUMAN",
            "refseq_ac": "NP_001165780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nexilin",
                    "type": "recommended"
                },
                {
                    "name": "F-actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Nelin",
                    "type": "synonym"
                },
                {
                    "name": "nexilin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEXN",
                    "type": "recommended"
                },
                {
                    "name": "CDM2M",
                    "type": "synonym"
                },
                {
                    "name": "CMH20",
                    "type": "synonym"
                },
                {
                    "name": "NELIN",
                    "type": "synonym"
                },
                {
                    "name": "NEXN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0ZGT2-1",
            "evidence": [
                {
                    "id": "613876",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613876"
                },
                {
                    "id": "0110326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110326"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2J4-1",
            "uniprot_ac": "Q9Z2J4",
            "uniprot_id": "NEXN_RAT",
            "refseq_ac": "NP_631976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nexilin",
                    "type": "recommended"
                },
                {
                    "name": "nexilin isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nexn",
                    "type": "recommended"
                },
                {
                    "name": "Nexn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2J4-1",
            "evidence": [
                {
                    "id": "0110326",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110326"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110326"
}