{
    "disease_id": "DOID:0061102",
    "recommended_name": {
        "id": "DOID:0061102",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061102",
        "name": "hypertrophic cardiomyopathy 27",
        "description": "A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0061102",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061102",
            "name": "CMH27",
            "description": ""
        },
        {
            "id": "DOID:0061102",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061102",
            "name": "familial hypertrophic cardiomyopathy 27",
            "description": ""
        },
        {
            "id": "MONDO:0054838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054838",
            "name": "cardiomyopathy, familial hypertrophic 27",
            "description": ""
        },
        {
            "id": "MONDO:0054838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054838",
            "name": "CMH27",
            "description": ""
        },
        {
            "id": "MIM:618052",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618052",
            "name": "Cardiomyopathy, familial hypertrophic, 27",
            "description": "Cardiomyopathy, familial hypertrophic, 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061102"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061102",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061102",
            "categories": []
        },
        {
            "id": "MONDO:0054838",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054838",
            "categories": []
        },
        {
            "id": "MIM:618052",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618052",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PZ45-1",
            "uniprot_ac": "A0A8M9PZ45",
            "uniprot_id": "A0A8M9PZ45_DANRE",
            "refseq_ac": "XP_021327621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein alpk3b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpk3b",
                    "type": "recommended"
                },
                {
                    "name": "alpk3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PZ45-1",
            "evidence": [
                {
                    "id": "0061102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924C5-1",
            "uniprot_ac": "Q924C5",
            "uniprot_id": "ALPK3_MOUSE",
            "refseq_ac": "NP_473426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Midori",
                    "type": "synonym"
                },
                {
                    "name": "Myocytic induction/differentiation originator",
                    "type": "synonym"
                },
                {
                    "name": "alpha-protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "myocyte induction differentiation originator",
                    "type": "synonym"
                },
                {
                    "name": "myocytic induction/differentiation originator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alpk3",
                    "type": "recommended"
                },
                {
                    "name": "Alpk3",
                    "type": "synonym"
                },
                {
                    "name": "D330016D04",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1330",
                    "type": "synonym"
                },
                {
                    "name": "MAK",
                    "type": "synonym"
                },
                {
                    "name": "Midori",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1330",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924C5-1",
            "evidence": [
                {
                    "id": "0061102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96L96-1",
            "uniprot_ac": "Q96L96",
            "uniprot_id": "ALPK3_HUMAN",
            "refseq_ac": "NP_065829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Muscle alpha-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "muscle alpha-kinase",
                    "type": "synonym"
                },
                {
                    "name": "muscle alpha-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "myocyte induction differentiation originator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALPK3",
                    "type": "recommended"
                },
                {
                    "name": "ALPK3",
                    "type": "synonym"
                },
                {
                    "name": "CMH27",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1330",
                    "type": "synonym"
                },
                {
                    "name": "MAK",
                    "type": "synonym"
                },
                {
                    "name": "MIDORI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96L96-1",
            "evidence": [
                {
                    "id": "618052",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618052"
                },
                {
                    "id": "0061102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZH28-1",
            "uniprot_ac": "D3ZH28",
            "uniprot_id": "D3ZH28_RAT",
            "refseq_ac": "NP_001178824",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-protein kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alpk3",
                    "type": "recommended"
                },
                {
                    "name": "Alpk3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309860",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZH28-1",
            "evidence": [
                {
                    "id": "0061102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061102"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061102"
}