{
    "disease_id": "DOID:0080502",
    "recommended_name": {
        "id": "DOID:0080502",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080502",
        "name": "GM1 gangliosidosis type 1",
        "description": "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death."
    },
    "synonyms": [
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "GM1 gangliosidosis type 1",
            "description": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations."
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "Norman-Landing disease",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "infantile GM1 gangliosidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "Beta galactosidase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "GLB deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis generalised GM1 infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis generalised GM1 type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis generalized GM1 infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis generalized GM1 type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis, generalised GM1, infantile form",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis, generalised GM1, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "name": "gangliosidosis, generalised GM1, type I, with Cardiac involvement",
            "description": ""
        },
        {
            "id": "MIM:230500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230500",
            "name": "GM1-gangliosidosis 1",
            "description": "GM1-gangliosidosis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080502"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080502",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080502",
            "categories": []
        },
        {
            "id": "MONDO:0009260",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009260",
            "categories": []
        },
        {
            "id": "MIM:230500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/230500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P16278-1",
            "uniprot_ac": "P16278",
            "uniprot_id": "BGAL_HUMAN",
            "refseq_ac": "NP_001129074",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "Elastin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Lactase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "elastin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "elastin receptor 1, 67kDa",
                    "type": "synonym"
                },
                {
                    "name": "lactase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLB1",
                    "type": "recommended"
                },
                {
                    "name": "EBP",
                    "type": "synonym"
                },
                {
                    "name": "ELNR1",
                    "type": "synonym"
                },
                {
                    "name": "GLB1",
                    "type": "synonym"
                },
                {
                    "name": "MPS4B",
                    "type": "synonym"
                }
            ],
            "record_id": "P16278-1",
            "evidence": [
                {
                    "id": "2720",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2720#disease"
                },
                {
                    "id": "0009260",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009260"
                },
                {
                    "id": "230500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/230500"
                },
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B6W2-1",
            "uniprot_ac": "A0A8M2B6W2",
            "uniprot_id": "A0A8M2B6W2_DANRE",
            "refseq_ac": "NP_001017547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glb1",
                    "type": "recommended"
                },
                {
                    "name": "glb1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110823",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B6W2-1",
            "evidence": [
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23780-1",
            "uniprot_ac": "P23780",
            "uniprot_id": "BGAL_MOUSE",
            "refseq_ac": "NP_033882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "Acid beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "Lactase",
                    "type": "synonym"
                },
                {
                    "name": "acid beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lactase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glb1",
                    "type": "recommended"
                },
                {
                    "name": "Bge",
                    "type": "synonym"
                },
                {
                    "name": "Bgl-e",
                    "type": "synonym"
                },
                {
                    "name": "Bgl-s",
                    "type": "synonym"
                },
                {
                    "name": "Bgl-t",
                    "type": "synonym"
                },
                {
                    "name": "Bgl",
                    "type": "synonym"
                },
                {
                    "name": "Bgs",
                    "type": "synonym"
                },
                {
                    "name": "Bgt",
                    "type": "synonym"
                },
                {
                    "name": "C130097A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Glb-1",
                    "type": "synonym"
                },
                {
                    "name": "Glb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23780-1",
            "evidence": [
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUM4-1",
            "uniprot_ac": "D3ZUM4",
            "uniprot_id": "D3ZUM4_RAT",
            "refseq_ac": "NP_001101662",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase precursor",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glb1",
                    "type": "recommended"
                },
                {
                    "name": "Glb1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZUM4-1",
            "evidence": [
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMJ5-1",
            "uniprot_ac": "Q9VMJ5",
            "uniprot_id": "Q9VMJ5_DROME",
            "refseq_ac": "NP_608978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "CG9092-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gal-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta galactosidase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase-1",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gal",
                    "type": "recommended"
                },
                {
                    "name": "CG9092",
                    "type": "synonym"
                },
                {
                    "name": "DmelGal",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9092",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9092",
                    "type": "synonym"
                },
                {
                    "name": "Gal",
                    "type": "synonym"
                },
                {
                    "name": "beta-GAL",
                    "type": "synonym"
                },
                {
                    "name": "beta-Gal-1",
                    "type": "synonym"
                },
                {
                    "name": "beta-gal",
                    "type": "synonym"
                },
                {
                    "name": "dbeta-Gal",
                    "type": "synonym"
                },
                {
                    "name": "gal",
                    "type": "synonym"
                },
                {
                    "name": "lacZ-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMJ5-1",
            "evidence": [
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGE7-1",
            "uniprot_ac": "Q9VGE7",
            "uniprot_id": "Q9VGE7_DROME",
            "refseq_ac": "NP_650142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-galactosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.23",
                    "type": "synonym"
                },
                {
                    "name": "CG3132-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ect3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ectoderm-expressed 3",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Ag",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ect3",
                    "type": "recommended"
                },
                {
                    "name": "87A7-9/8",
                    "type": "synonym"
                },
                {
                    "name": "8",
                    "type": "synonym"
                },
                {
                    "name": "CG3132",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3132",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3132",
                    "type": "synonym"
                },
                {
                    "name": "Ect3",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Ag",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGE7-1",
            "evidence": [
                {
                    "id": "0080502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080502"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080502"
}