{
    "disease_id": "DOID:0061202",
    "recommended_name": {
        "id": "DOID:0061202",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061202",
        "name": "congenital muscular dystrophy with rapid progression",
        "description": "A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0009682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009682",
            "name": "muscular dystrophy, congenital, with rapid progression",
            "description": ""
        },
        {
            "id": "MONDO:0009682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009682",
            "name": "muscular dystrophy, congenital, with rapid progression",
            "description": ""
        },
        {
            "id": "MIM:254100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254100",
            "name": "Muscular dystrophy, congenital, with rapid progression",
            "description": "Muscular dystrophy, congenital, with rapid progression"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061202"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061202",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061202",
            "categories": []
        },
        {
            "id": "MONDO:0009682",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009682",
            "categories": []
        },
        {
            "id": "MIM:254100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6IQT6-1",
            "uniprot_ac": "Q6IQT6",
            "uniprot_id": "Q6IQT6_DANRE",
            "refseq_ac": "NP_001002046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "blocked early in transport 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bet1",
                    "type": "recommended"
                },
                {
                    "name": "bet1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-262k23.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86622",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IQT6-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35623-1",
            "uniprot_ac": "O35623",
            "uniprot_id": "BET1_MOUSE",
            "refseq_ac": "NP_033878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "blocked early in transport 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "mBET1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bet1",
                    "type": "recommended"
                },
                {
                    "name": "Bet-1",
                    "type": "synonym"
                },
                {
                    "name": "Bet1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35623-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15155-1",
            "uniprot_ac": "O15155",
            "uniprot_id": "BET1_HUMAN",
            "refseq_ac": "NP_001304668",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BET1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Bet1p homolog",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "blocked early in transport 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "hBET1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BET1",
                    "type": "recommended"
                },
                {
                    "name": "BET1",
                    "type": "synonym"
                },
                {
                    "name": "HBET1",
                    "type": "synonym"
                },
                {
                    "name": "MDRP",
                    "type": "synonym"
                }
            ],
            "record_id": "O15155-1",
            "evidence": [
                {
                    "id": "254100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254100"
                },
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22804-1",
            "uniprot_ac": "P22804",
            "uniprot_id": "BET1_YEAST",
            "refseq_ac": "NP_012262",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein BET1",
                    "type": "recommended"
                },
                {
                    "name": "Bet1p",
                    "type": "synonym"
                },
                {
                    "name": "Protein SLY12",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of loss of YPT1 protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BET1",
                    "type": "recommended"
                },
                {
                    "name": "BET1",
                    "type": "synonym"
                },
                {
                    "name": "SLY12",
                    "type": "synonym"
                },
                {
                    "name": "YIA4C",
                    "type": "synonym"
                }
            ],
            "record_id": "P22804-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62896-1",
            "uniprot_ac": "Q62896",
            "uniprot_id": "BET1_RAT",
            "refseq_ac": "NP_062124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "golgi vesicular membrane trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "rBET1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bet1",
                    "type": "recommended"
                },
                {
                    "name": "Bet1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62896-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVX6-1",
            "uniprot_ac": "Q9VVX6",
            "uniprot_id": "Q9VVX6_DROME",
            "refseq_ac": "NP_649096",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BET1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "BET1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Bet1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG14084-PA",
                    "type": "synonym"
                },
                {
                    "name": "Golgi vesicular membrane-trafficking protein p18",
                    "type": "synonym"
                },
                {
                    "name": "blocked early in transport 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bet1",
                    "type": "recommended"
                },
                {
                    "name": "BET1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH40423",
                    "type": "synonym"
                },
                {
                    "name": "Bet1",
                    "type": "synonym"
                },
                {
                    "name": "CG14084",
                    "type": "synonym"
                },
                {
                    "name": "Dm Bet1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14084",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14084",
                    "type": "synonym"
                },
                {
                    "name": "G14084",
                    "type": "synonym"
                },
                {
                    "name": "bs16e01.y1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVX6-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08572-1",
            "uniprot_ac": "P08572",
            "uniprot_id": "CO4A2_HUMAN",
            "refseq_ac": "NP_001837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "canstatin",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IV) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A2",
                    "type": "recommended"
                },
                {
                    "name": "BSVD2A",
                    "type": "synonym"
                },
                {
                    "name": "BSVD2B",
                    "type": "synonym"
                },
                {
                    "name": "BSVD2",
                    "type": "synonym"
                },
                {
                    "name": "COL4A2",
                    "type": "synonym"
                },
                {
                    "name": "ICH",
                    "type": "synonym"
                },
                {
                    "name": "POREN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P08572-1",
            "evidence": [
                {
                    "id": "0061202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061202"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061202"
}