{
    "disease_id": "DOID:0061288",
    "recommended_name": {
        "id": "DOID:0061288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061288",
        "name": "glycogen storage disease XIII",
        "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease due to muscle beta-enolase deficiency",
            "description": "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSD due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSDXIII",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogenosis due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogenosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "muscle enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "muscular enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSD13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease XIII",
            "description": ""
        },
        {
            "id": "MIM:612932",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612932",
            "name": "Glycogen storage disease 13",
            "description": "Glycogen storage disease 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061288"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061288",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061288",
            "categories": []
        },
        {
            "id": "MONDO:0013046",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "categories": []
        },
        {
            "id": "MIM:612932",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612932",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P13929-1",
            "uniprot_ac": "P13929",
            "uniprot_id": "ENOB_HUMAN",
            "refseq_ac": "NP_001180432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-enolase",
                    "type": "recommended"
                },
                {
                    "name": "2-phospho-D-glycerate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "2-phospho-D-glycerate hydrolyase",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Enolase 3",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle enolase",
                    "type": "synonym"
                },
                {
                    "name": "beta-enolase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "enolase 3 (beta, muscle)",
                    "type": "synonym"
                },
                {
                    "name": "muscle enriched enolase",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific enolase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle enolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENO3",
                    "type": "recommended"
                },
                {
                    "name": "ENO3",
                    "type": "synonym"
                },
                {
                    "name": "GSD13",
                    "type": "synonym"
                },
                {
                    "name": "MSE",
                    "type": "synonym"
                }
            ],
            "record_id": "P13929-1",
            "evidence": [
                {
                    "id": "612932",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612932"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061288"
}