{
    "disease_id": "DOID:0061287",
    "recommended_name": {
        "id": "DOID:0061287",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061287",
        "name": "glycogen storage disease XII",
        "description": "A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061287",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061287",
            "name": "aldolase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease due to aldolase A deficiency",
            "description": "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported."
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "GSD due to aldolase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "GSD type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "GSD type XII",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease due to aldolase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease type XII",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogenosis due to aldolase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogenosis type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogenosis type XII",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "GSD12",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "aldolase deficiency red cell",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease 12",
            "description": ""
        },
        {
            "id": "MONDO:0012747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "name": "glycogen storage disease XII",
            "description": ""
        },
        {
            "id": "MIM:611881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611881",
            "name": "Glycogen storage disease 12",
            "description": "Glycogen storage disease 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061287"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061287",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061287",
            "categories": []
        },
        {
            "id": "MONDO:0012747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012747",
            "categories": []
        },
        {
            "id": "MIM:611881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P04075-1",
            "uniprot_ac": "P04075",
            "uniprot_id": "ALDOA_HUMAN",
            "refseq_ac": "NP_001121089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fructose-bisphosphate aldolase A",
                    "type": "recommended"
                },
                {
                    "name": "4.1.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Lung cancer antigen NY-LU-1",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-type aldolase",
                    "type": "synonym"
                },
                {
                    "name": "aldolase A, fructose-bisphosphate",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 87p",
                    "type": "synonym"
                },
                {
                    "name": "fructose-1,6-bisphosphate triosephosphate-lyase",
                    "type": "synonym"
                },
                {
                    "name": "fructose-bisphosphate aldolase A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lung cancer antigen NY-LU-1",
                    "type": "synonym"
                },
                {
                    "name": "muscle-type aldolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDOA",
                    "type": "recommended"
                },
                {
                    "name": "ALDA",
                    "type": "synonym"
                },
                {
                    "name": "ALDOA",
                    "type": "synonym"
                },
                {
                    "name": "GSD12",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-87p",
                    "type": "synonym"
                }
            ],
            "record_id": "P04075-1",
            "evidence": [
                {
                    "id": "611881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611881"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061287"
}