{
    "disease_id": "DOID:0111444",
    "recommended_name": {
        "id": "DOID:0111444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111444",
        "name": "progressive myoclonus epilepsy 4",
        "description": "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "AMRF",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "EPM4",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "Myoclonus-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "action myoclonus-renal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "action myoclonus-renal failure syndrome",
            "description": "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms."
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "AMRF",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "EPM4",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "action myoclonus-renal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "epilepsy, progressive myoclonic 4, with or without renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "epilepsy, progressive myoclonic, 4, with or without renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "myoclonus-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "progressive myoclonic epilepsy type 4",
            "description": ""
        },
        {
            "id": "MIM:254900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254900",
            "name": "Epilepsy, progressive myoclonic 4, with or without renal failure",
            "description": "Epilepsy, progressive myoclonic 4, with or without renal failure"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111444"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111444",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "categories": []
        },
        {
            "id": "MONDO:0009699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "categories": []
        },
        {
            "id": "MIM:254900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A953-1",
            "uniprot_ac": "A0AB13A953",
            "uniprot_id": "A0AB13A953_DANRE",
            "refseq_ac": "NP_001352071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome membrane protein 2c",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scarb2c",
                    "type": "recommended"
                },
                {
                    "name": "fi18e02",
                    "type": "synonym"
                },
                {
                    "name": "fj81e10",
                    "type": "synonym"
                },
                {
                    "name": "scarb2c",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi18e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj81e10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A953-1",
            "evidence": [
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8Q7M1-1",
            "uniprot_ac": "A0A2R8Q7M1",
            "uniprot_id": "A0A2R8Q7M1_DANRE",
            "refseq_ac": "XP_009299911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scarb2b",
                    "type": "recommended"
                },
                {
                    "name": "scarb2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q7M1-1",
            "evidence": [
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35114-1",
            "uniprot_ac": "O35114",
            "uniprot_id": "SCRB2_MOUSE",
            "refseq_ac": "NP_031670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa lysosomal membrane sialoglycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LIMP II",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome membrane protein II",
                    "type": "synonym"
                },
                {
                    "name": "Scavenger receptor class B member 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scarb2",
                    "type": "recommended"
                },
                {
                    "name": "9330185J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cd36l2",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LIMP II",
                    "type": "synonym"
                },
                {
                    "name": "LIMP-2",
                    "type": "synonym"
                },
                {
                    "name": "MLGP85",
                    "type": "synonym"
                },
                {
                    "name": "Scarb2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35114-1",
            "evidence": [
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14108-1",
            "uniprot_ac": "Q14108",
            "uniprot_id": "SCRB2_HUMAN",
            "refseq_ac": "NP_001191184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa lysosomal membrane sialoglycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2",
                    "type": "synonym"
                },
                {
                    "name": "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)",
                    "type": "synonym"
                },
                {
                    "name": "CD36 antigen-like 2",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LIMP II",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome membrane protein II",
                    "type": "synonym"
                },
                {
                    "name": "Scavenger receptor class B member 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCARB2",
                    "type": "recommended"
                },
                {
                    "name": "AMRF",
                    "type": "synonym"
                },
                {
                    "name": "CD36L2",
                    "type": "synonym"
                },
                {
                    "name": "EPM4",
                    "type": "synonym"
                },
                {
                    "name": "HLGP85",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LIMP-2",
                    "type": "synonym"
                },
                {
                    "name": "LIMP2",
                    "type": "synonym"
                },
                {
                    "name": "LIMPII",
                    "type": "synonym"
                },
                {
                    "name": "SCARB2",
                    "type": "synonym"
                },
                {
                    "name": "SR-BII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14108-1",
            "evidence": [
                {
                    "id": "254900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254900"
                },
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27615-1",
            "uniprot_ac": "P27615",
            "uniprot_id": "SCRB2_RAT",
            "refseq_ac": "NP_446453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa lysosomal membrane sialoglycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2",
                    "type": "synonym"
                },
                {
                    "name": "CD36 antigen-like 2",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LIMP II",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome membrane protein II",
                    "type": "synonym"
                },
                {
                    "name": "Scavenger receptor class B member 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosome membrane protein II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scarb2",
                    "type": "recommended"
                },
                {
                    "name": "Cd36l2",
                    "type": "synonym"
                },
                {
                    "name": "LGP85",
                    "type": "synonym"
                },
                {
                    "name": "LimpII",
                    "type": "synonym"
                },
                {
                    "name": "Limpii",
                    "type": "synonym"
                },
                {
                    "name": "Scarb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P27615-1",
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                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JI63-1",
            "uniprot_ac": "E1JI63",
            "uniprot_id": "SNMP2_DROME",
            "refseq_ac": "NP_001036593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sensory neuron membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG7422-PB",
                    "type": "synonym"
                },
                {
                    "name": "SNMP2Dmel",
                    "type": "synonym"
                },
                {
                    "name": "Snmp2-PB",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron membrane protein 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snmp2",
                    "type": "recommended"
                },
                {
                    "name": "148358_at",
                    "type": "synonym"
                },
                {
                    "name": "CG16832",
                    "type": "synonym"
                },
                {
                    "name": "CG7422",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7422",
                    "type": "synonym"
                },
                {
                    "name": "SNMP2",
                    "type": "synonym"
                },
                {
                    "name": "Snmp2",
                    "type": "synonym"
                },
                {
                    "name": "snmp",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JI63-1",
            "evidence": [
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDD3-1",
            "uniprot_ac": "Q9VDD3",
            "uniprot_id": "SNMP1_DROME",
            "refseq_ac": "NP_001262803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sensory neuron membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7000-PB",
                    "type": "synonym"
                },
                {
                    "name": "SNMP1Dmel",
                    "type": "synonym"
                },
                {
                    "name": "Snmp1-PB",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron membrane protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron membrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snmp1",
                    "type": "recommended"
                },
                {
                    "name": "CG7000",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7000",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7000",
                    "type": "synonym"
                },
                {
                    "name": "SNMP1",
                    "type": "synonym"
                },
                {
                    "name": "SNMP",
                    "type": "synonym"
                },
                {
                    "name": "Snmp1",
                    "type": "synonym"
                },
                {
                    "name": "Snmp",
                    "type": "synonym"
                },
                {
                    "name": "snmp1",
                    "type": "synonym"
                },
                {
                    "name": "snmp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDD3-1",
            "evidence": [
                {
                    "id": "0111444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111444"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111444"
}