{
    "disease_id": "DOID:0061134",
    "recommended_name": {
        "id": "DOID:0061134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061134",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 29",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "DOID:0061134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061134",
            "name": "LGMDR29",
            "description": ""
        },
        {
            "id": "MONDO:0971171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971171",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MIM:620793",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620793",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 29",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061134",
            "categories": []
        },
        {
            "id": "MONDO:0971171",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971171",
            "categories": []
        },
        {
            "id": "MIM:620793",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620793",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80W37-1",
            "uniprot_ac": "Q80W37",
            "uniprot_id": "SPN1_MOUSE",
            "refseq_ac": "NP_848461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snurportin-1",
                    "type": "recommended"
                },
                {
                    "name": "RNA U transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA, U transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "snurportin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snupn",
                    "type": "recommended"
                },
                {
                    "name": "0610031A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rnut1",
                    "type": "synonym"
                },
                {
                    "name": "Snupn1",
                    "type": "synonym"
                },
                {
                    "name": "Snupn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80W37-1",
            "evidence": [
                {
                    "id": "0061134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95149-1",
            "uniprot_ac": "O95149",
            "uniprot_id": "SPN1_HUMAN",
            "refseq_ac": "NP_001036046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snurportin-1",
                    "type": "recommended"
                },
                {
                    "name": "RNA U transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "snurportin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNUPN",
                    "type": "recommended"
                },
                {
                    "name": "KPNBL",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR29",
                    "type": "synonym"
                },
                {
                    "name": "RNUT1",
                    "type": "synonym"
                },
                {
                    "name": "SNUPN",
                    "type": "synonym"
                },
                {
                    "name": "SPN1",
                    "type": "synonym"
                },
                {
                    "name": "Snurportin1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95149-1",
            "evidence": [
                {
                    "id": "620793",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620793"
                },
                {
                    "id": "0061134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FP5-1",
            "uniprot_ac": "Q68FP5",
            "uniprot_id": "SPN1_RAT",
            "refseq_ac": "NP_001004270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snurportin-1",
                    "type": "recommended"
                },
                {
                    "name": "RNA U transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "snurportin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snupn",
                    "type": "recommended"
                },
                {
                    "name": "Rnut1",
                    "type": "synonym"
                },
                {
                    "name": "Snupn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FP5-1",
            "evidence": [
                {
                    "id": "0061134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0I7-1",
            "uniprot_ac": "B7Z0I7",
            "uniprot_id": "SPN1_DROME",
            "refseq_ac": "NP_001137877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snurportin-1",
                    "type": "recommended"
                },
                {
                    "name": "CG42303-PA",
                    "type": "synonym"
                },
                {
                    "name": "Snup-PA",
                    "type": "synonym"
                },
                {
                    "name": "snurportin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snup",
                    "type": "recommended"
                },
                {
                    "name": "CG1247",
                    "type": "synonym"
                },
                {
                    "name": "CG32297",
                    "type": "synonym"
                },
                {
                    "name": "CG42303",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42303",
                    "type": "synonym"
                },
                {
                    "name": "Snup",
                    "type": "synonym"
                },
                {
                    "name": "dSNUP",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z0I7-1",
            "evidence": [
                {
                    "id": "0061134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061134"
}