{
    "disease_id": "DOID:0061286",
    "recommended_name": {
        "id": "DOID:0061286",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061286",
        "name": "glycogen storage disease XI",
        "description": "A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0061286",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061286",
            "name": "lactate dehydrogenase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",
            "description": "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern."
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "GSD due to lactate dehydrogenase M-subunit deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "LDH-M subunit deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "LDHA glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogen storage disease caused by mutation in LDHA",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogenosis due to lactate dehydrogenase M-subunit deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "lactate dehydrogenase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "GSD 11",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "GSD XI",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "GSD type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "GSD11",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogen storage disease XI",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogen storage disease type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "glycogenosis type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "name": "lactate dehydrogenase deficiency type A",
            "description": ""
        },
        {
            "id": "MIM:612933",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612933",
            "name": "Glycogen storage disease 11",
            "description": "Glycogen storage disease 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061286"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061286",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061286",
            "categories": []
        },
        {
            "id": "MONDO:0013047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013047",
            "categories": []
        },
        {
            "id": "MIM:612933",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612933",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00338-1",
            "uniprot_ac": "P00338",
            "uniprot_id": "LDHA_HUMAN",
            "refseq_ac": "NP_001128711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-lactate dehydrogenase A chain",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.27",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "L-lactate dehydrogenase A chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "L-lactate dehydrogenase A chain",
                    "type": "synonym"
                },
                {
                    "name": "LDH muscle subunit",
                    "type": "synonym"
                },
                {
                    "name": "LDH-A",
                    "type": "synonym"
                },
                {
                    "name": "LDH-M",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-59",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 133P",
                    "type": "synonym"
                },
                {
                    "name": "lactate dehydrogenase M",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing gene 19",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-59",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LDHA",
                    "type": "recommended"
                },
                {
                    "name": "GSD11",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-133P",
                    "type": "synonym"
                },
                {
                    "name": "LDHA",
                    "type": "synonym"
                },
                {
                    "name": "LDHM",
                    "type": "synonym"
                },
                {
                    "name": "PIG19",
                    "type": "synonym"
                }
            ],
            "record_id": "P00338-1",
            "evidence": [
                {
                    "id": "612933",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612933"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061286"
}