{
    "disease_id": "DOID:0050437",
    "recommended_name": {
        "id": "DOID:0050437",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050437",
        "name": "Danon disease",
        "description": "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050437",
            "name": "ANTOPOL DISEASE",
            "description": ""
        },
        {
            "id": "DOID:0050437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050437",
            "name": "PSEUDOGLYCOGENOSIS II",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "Danon disease",
            "description": "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit."
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "ANTOPOL disease",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "Danon disease",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "Danon disease, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "GSD due to LAMP-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "LAMP2 lysosomal glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "glycogen storage disease type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "glycogenosis due to LAMP-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "lysosomal glycogen storage disease caused by mutation in LAMP2",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "lysosomal glycogen storage disease with normal acid maltase activity",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "GSD IIb",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "GSD2B (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "X-linked vacuolar cardiomyopathy and myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "glycogen storage cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "glycogen storage disease limited to the heart",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "glycogen storage disease type 2b (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "lysosomal glycogen storage disease without acid maltase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "lysosomal glycogen storage disease without acid maltase deficiency (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "name": "vacuolar cardiomyopathy and myopathy X-linked",
            "description": ""
        },
        {
            "id": "MIM:300257",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300257",
            "name": "Danon disease",
            "description": "Danon disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050437"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050437",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050437",
            "categories": []
        },
        {
            "id": "MONDO:0010281",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010281",
            "categories": []
        },
        {
            "id": "MIM:300257",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300257",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7U6-1",
            "uniprot_ac": "A0ACD6B7U6",
            "uniprot_id": "A0ACD6B7U6_DANRE",
            "refseq_ac": "NP_001428472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal membrane glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 2 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lamp2",
                    "type": "recommended"
                },
                {
                    "name": "lamp2",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb587",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb14a06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103532",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7U6-1",
            "evidence": [
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17047-1",
            "uniprot_ac": "P17047",
            "uniprot_id": "LAMP2_MOUSE",
            "refseq_ac": "NP_001017959",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 2",
                    "type": "recommended"
                },
                {
                    "name": "CD107 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-2",
                    "type": "synonym"
                },
                {
                    "name": "LGP-B",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal membrane glycoprotein type B",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome-associated membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal membrane glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal membrane glycoprotein type B",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamp2",
                    "type": "recommended"
                },
                {
                    "name": "CD107b",
                    "type": "synonym"
                },
                {
                    "name": "LGP-B",
                    "type": "synonym"
                },
                {
                    "name": "Lamp II",
                    "type": "synonym"
                },
                {
                    "name": "Lamp-2a",
                    "type": "synonym"
                },
                {
                    "name": "Lamp-2b",
                    "type": "synonym"
                },
                {
                    "name": "Lamp-2c",
                    "type": "synonym"
                },
                {
                    "name": "Lamp-2",
                    "type": "synonym"
                },
                {
                    "name": "Lamp2",
                    "type": "synonym"
                },
                {
                    "name": "Mac3",
                    "type": "synonym"
                }
            ],
            "record_id": "P17047-1",
            "evidence": [
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13473-1",
            "uniprot_ac": "P13473",
            "uniprot_id": "LAMP2_HUMAN",
            "refseq_ac": "NP_001116078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 2",
                    "type": "recommended"
                },
                {
                    "name": "CD107 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-2",
                    "type": "synonym"
                },
                {
                    "name": "LGP-96",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome-associated membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal associated membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 2 isoform C precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMP2",
                    "type": "recommended"
                },
                {
                    "name": "CD107b",
                    "type": "synonym"
                },
                {
                    "name": "DND",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-2",
                    "type": "synonym"
                },
                {
                    "name": "LAMP2",
                    "type": "synonym"
                },
                {
                    "name": "LAMPB",
                    "type": "synonym"
                },
                {
                    "name": "LGP-96",
                    "type": "synonym"
                },
                {
                    "name": "LGP110",
                    "type": "synonym"
                }
            ],
            "record_id": "P13473-1",
            "evidence": [
                {
                    "id": "300257",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300257"
                },
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17046-1",
            "uniprot_ac": "P17046",
            "uniprot_id": "LAMP2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 2",
                    "type": "recommended"
                },
                {
                    "name": "CD107 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-2",
                    "type": "synonym"
                },
                {
                    "name": "LGP-110",
                    "type": "synonym"
                },
                {
                    "name": "LGP-96",
                    "type": "synonym"
                },
                {
                    "name": "LGP-B",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal membrane glycoprotein type B",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome-associated membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamp2",
                    "type": "recommended"
                },
                {
                    "name": "Lamp-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P17046-1",
            "evidence": [
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9S0-1",
            "uniprot_ac": "Q9V9S0",
            "uniprot_id": "Q9V9S0_DROME",
            "refseq_ac": "NP_610111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 5",
                    "type": "recommended"
                },
                {
                    "name": "CG3305-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lamp1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lamp1",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome-associated membrane protein 5",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal-associated membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lamp1",
                    "type": "recommended"
                },
                {
                    "name": "CG3305",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3305",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3305",
                    "type": "synonym"
                },
                {
                    "name": "LAMP1",
                    "type": "synonym"
                },
                {
                    "name": "LAMP",
                    "type": "synonym"
                },
                {
                    "name": "Lamp-1",
                    "type": "synonym"
                },
                {
                    "name": "Lamp1",
                    "type": "synonym"
                },
                {
                    "name": "Lamp",
                    "type": "synonym"
                },
                {
                    "name": "dLAMP",
                    "type": "synonym"
                },
                {
                    "name": "dLamp",
                    "type": "synonym"
                },
                {
                    "name": "lamp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9S0-1",
            "evidence": [
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99704-1",
            "uniprot_ac": "Q99704",
            "uniprot_id": "DOK1_HUMAN",
            "refseq_ac": "NP_001184189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Docking protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Downstream of tyrosine kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "docking protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "p62(dok)",
                    "type": "synonym"
                },
                {
                    "name": "pp62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOK1",
                    "type": "recommended"
                },
                {
                    "name": "DOK1",
                    "type": "synonym"
                },
                {
                    "name": "P62DOK",
                    "type": "synonym"
                },
                {
                    "name": "pp62",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99704-1",
            "evidence": [
                {
                    "id": "0050437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050437"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050437"
}