{
    "disease_id": "DOID:0061258",
    "recommended_name": {
        "id": "DOID:0061258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061258",
        "name": "congenital myopathy 27",
        "description": "A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0979897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979897",
            "name": "congenital myopathy 27",
            "description": ""
        },
        {
            "id": "MIM:621343",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621343",
            "name": "Congenital myopathy 27",
            "description": "Congenital myopathy 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061258"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061258",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061258",
            "categories": []
        },
        {
            "id": "MONDO:0979897",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979897",
            "categories": []
        },
        {
            "id": "MIM:621343",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621343",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UKS6-1",
            "uniprot_ac": "Q9UKS6",
            "uniprot_id": "PACN3_HUMAN",
            "refseq_ac": "NP_001171903",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C and casein kinase substrate in neurons protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SH3 domain-containing protein 6511",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C and casein kinase substrate in neurons protein 3",
                    "type": "synonym"
                },
                {
                    "name": "syndapin III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PACSIN3",
                    "type": "recommended"
                },
                {
                    "name": "CMYO27",
                    "type": "synonym"
                },
                {
                    "name": "PACSIN3",
                    "type": "synonym"
                },
                {
                    "name": "SDPIII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKS6-1",
            "evidence": [
                {
                    "id": "621343",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621343"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061258"
}