{
    "disease_id": "DOID:0070600",
    "recommended_name": {
        "id": "DOID:0070600",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070600",
        "name": "intellectual disability and myopathy syndrome",
        "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "ABCC9-related intellectual disability and myopathy",
            "description": ""
        },
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "AIMS",
            "description": ""
        },
        {
            "id": "DOID:0070600",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "name": "IDMYS",
            "description": ""
        },
        {
            "id": "MONDO:0859224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859224",
            "name": "intellectual disability and myopathy syndrome",
            "description": ""
        },
        {
            "id": "MIM:619719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619719",
            "name": "Intellectual disability and myopathy syndrome",
            "description": "Intellectual disability and myopathy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070600"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070600",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070600",
            "categories": []
        },
        {
            "id": "MONDO:0859224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859224",
            "categories": []
        },
        {
            "id": "MIM:619719",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619719",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BBT3-1",
            "uniprot_ac": "A0A8M2BBT3",
            "uniprot_id": "A0A8M2BBT3_DANRE",
            "refseq_ac": "XP_005164758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcc9",
                    "type": "recommended"
                },
                {
                    "name": "abcc9",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-183c2.3",
                    "type": "synonym"
                },
                {
                    "name": "sur2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BBT3-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70170-1",
            "uniprot_ac": "P70170",
            "uniprot_id": "ABCC9_MOUSE",
            "refseq_ac": "NP_001038185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 9",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcc9",
                    "type": "recommended"
                },
                {
                    "name": "Abcc9",
                    "type": "synonym"
                },
                {
                    "name": "SUR2A",
                    "type": "synonym"
                },
                {
                    "name": "SUR2B",
                    "type": "synonym"
                },
                {
                    "name": "Sur2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70170-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60706-1",
            "uniprot_ac": "O60706",
            "uniprot_id": "ABCC9_HUMAN",
            "refseq_ac": "NP_005682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 9",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform SUR2A",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCC9",
                    "type": "recommended"
                },
                {
                    "name": "ABC37",
                    "type": "synonym"
                },
                {
                    "name": "ABCC9",
                    "type": "synonym"
                },
                {
                    "name": "ATFB12",
                    "type": "synonym"
                },
                {
                    "name": "CANTU",
                    "type": "synonym"
                },
                {
                    "name": "CMD1O",
                    "type": "synonym"
                },
                {
                    "name": "IDMYS",
                    "type": "synonym"
                },
                {
                    "name": "SUR2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60706-1",
            "evidence": [
                {
                    "id": "619719",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619719"
                },
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32386-1",
            "uniprot_ac": "P32386",
            "uniprot_id": "YBT1_YEAST",
            "refseq_ac": "NP_013052",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent bile acid permease",
                    "type": "recommended"
                },
                {
                    "name": "bile acid-transporting ATPase YBT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YBT1",
                    "type": "recommended"
                },
                {
                    "name": "BAT1",
                    "type": "synonym"
                },
                {
                    "name": "YBT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32386-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38735-1",
            "uniprot_ac": "P38735",
            "uniprot_id": "VMR1_YEAST",
            "refseq_ac": "NP_011828",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ABC transporter ATP-binding protein/permease VMR1",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar multidrug resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-binding cassette multidrug transporter VMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMR1",
                    "type": "recommended"
                },
                {
                    "name": "VMR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38735-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63563-1",
            "uniprot_ac": "Q63563",
            "uniprot_id": "ABCC9_RAT",
            "refseq_ac": "NP_037172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 9",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C, member 9-like",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcc9",
                    "type": "recommended"
                },
                {
                    "name": "Abcc9",
                    "type": "synonym"
                },
                {
                    "name": "Sur2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63563-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL32-1",
            "uniprot_ac": "Q9VL32",
            "uniprot_id": "SUR_DROME",
            "refseq_ac": "NP_001334732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member Sur",
                    "type": "recommended"
                },
                {
                    "name": "CG5772-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dsur",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor",
                    "type": "synonym"
                },
                {
                    "name": "Sur-PC",
                    "type": "synonym"
                },
                {
                    "name": "sulfonyl urea receptor",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea receptor",
                    "type": "synonym"
                },
                {
                    "name": "sulphonylurea receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sur",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK00325",
                    "type": "synonym"
                },
                {
                    "name": "CG5772",
                    "type": "synonym"
                },
                {
                    "name": "CK00325",
                    "type": "synonym"
                },
                {
                    "name": "DSur",
                    "type": "synonym"
                },
                {
                    "name": "DmSUR",
                    "type": "synonym"
                },
                {
                    "name": "Dme_CG5772",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5772",
                    "type": "synonym"
                },
                {
                    "name": "Dsur",
                    "type": "synonym"
                },
                {
                    "name": "SUR",
                    "type": "synonym"
                },
                {
                    "name": "Sur",
                    "type": "synonym"
                },
                {
                    "name": "dSUR",
                    "type": "synonym"
                },
                {
                    "name": "dSur",
                    "type": "synonym"
                },
                {
                    "name": "dsur",
                    "type": "synonym"
                },
                {
                    "name": "sur",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL32-1",
            "evidence": [
                {
                    "id": "0070600",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070600"
}