{
    "disease_id": "DOID:0110276",
    "recommended_name": {
        "id": "DOID:0110276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110276",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2B",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "LGMD2B",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "LGMD3",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "limb-girdle muscular dystrophy type 3",
            "description": ""
        },
        {
            "id": "DOID:0110276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "name": "limb-girdle muscular dystrophy due to dysferlin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2B",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "DYSF autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "LGMD2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "LGMD3",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy due to dysferlin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "limb-girdle muscular dystrophy, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0009676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "name": "muscular dystrophy, limb-girdle, type 2B",
            "description": ""
        },
        {
            "id": "MIM:253601",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253601",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 2",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110276",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110276",
            "categories": []
        },
        {
            "id": "MONDO:0009676",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009676",
            "categories": []
        },
        {
            "id": "MIM:253601",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253601",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QH25-1",
            "uniprot_ac": "A0A8M9QH25",
            "uniprot_id": "A0A8M9QH25_DANRE",
            "refseq_ac": "XP_021333230",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysferlin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dysf",
                    "type": "recommended"
                },
                {
                    "name": "dysf",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-50c18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73b05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QH25-1",
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                    "id": "0110276",
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                }
            ]
        },
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            "uniprot_ac": "Q9PTN2",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor A",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor A",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "VDR-A",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor a",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor alpha",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vdra",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1-A",
                    "type": "synonym"
                },
                {
                    "name": "VDR-A",
                    "type": "synonym"
                },
                {
                    "name": "VDRalpha",
                    "type": "synonym"
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                {
                    "name": "nr1i1a",
                    "type": "synonym"
                },
                {
                    "name": "vdra",
                    "type": "synonym"
                },
                {
                    "name": "vdr",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1L673-1",
            "uniprot_ac": "Q1L673",
            "uniprot_id": "VDRB_DANRE",
            "refseq_ac": "NP_001153457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor B",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor B",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1-B",
                    "type": "synonym"
                },
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                    "name": "VDR-B",
                    "type": "synonym"
                },
                {
                    "name": "nr1i1b",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1-B",
                    "type": "synonym"
                },
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                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor b",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25-dihydroxyvitamin D3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vdrb",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1-B",
                    "type": "synonym"
                },
                {
                    "name": "VDRbeta",
                    "type": "synonym"
                },
                {
                    "name": "gb:dq017633",
                    "type": "synonym"
                },
                {
                    "name": "nr1i1b",
                    "type": "synonym"
                },
                {
                    "name": "vdrb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L673-1",
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                    "id": "0110276",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESD7-1",
            "uniprot_ac": "Q9ESD7",
            "uniprot_id": "DYSF_MOUSE",
            "refseq_ac": "NP_001071162",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysferlin",
                    "type": "recommended"
                },
                {
                    "name": "Dystrophy-associated fer-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Fer-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin_a",
                    "type": "synonym"
                },
                {
                    "name": "dystrophy-associated fer-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dysf",
                    "type": "recommended"
                },
                {
                    "name": "2310004N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "D6Pas3",
                    "type": "synonym"
                },
                {
                    "name": "Dysf",
                    "type": "synonym"
                },
                {
                    "name": "Fer1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESD7-1",
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                {
                    "id": "0110276",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48281-1",
            "uniprot_ac": "P48281",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Vdr",
                    "type": "recommended"
                },
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                    "name": "Nr1i1",
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                },
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                    "type": "synonym"
                }
            ],
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                    "id": "0110276",
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            ]
        },
        {
            "uniprot_canonical_ac": "O75923-1",
            "uniprot_ac": "O75923",
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            "refseq_ac": "NP_001123927",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysferlin",
                    "type": "recommended"
                },
                {
                    "name": "Dystrophy-associated fer-1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Fer-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dysferlin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dystrophy-associated fer-1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like family member 1",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "limb girdle muscular dystrophy 2B (autosomal recessive)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DYSF",
                    "type": "recommended"
                },
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                    "name": "DYSF",
                    "type": "synonym"
                },
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                    "name": "FER1L1",
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                    "name": "LGMD2B",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR2",
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                {
                    "name": "MMD1",
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                }
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                    "id": "253601",
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                    "url": "https://www.omim.org/entry/253601"
                },
                {
                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
                }
            ]
        },
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            "uniprot_canonical_ac": "A0A0G2K7B6-1",
            "uniprot_ac": "A0A0G2K7B6",
            "uniprot_id": "A0A0G2K7B6_RAT",
            "refseq_ac": "XP_006236820",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Dysferlin",
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                    "name": "Dystrophy-associated fer-1-like protein",
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                },
                {
                    "name": "Fer-1-like protein 1",
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                },
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                    "name": "dysferlin isoform X4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dysf",
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                },
                {
                    "name": "Dysf",
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                }
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                    "id": "0110276",
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            ]
        },
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            "uniprot_canonical_ac": "P13053-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
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                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
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                    "name": "VDR",
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                },
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                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
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                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor",
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                    "name": "vitamin D3 receptor",
                    "type": "synonym"
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            ],
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                    "name": "Vdr",
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                    "name": "Nr1i1",
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                },
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                    "name": "Vdr",
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            ],
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                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
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            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0E5-1",
            "uniprot_ac": "B7Z0E5",
            "uniprot_id": "B7Z0E5_DROME",
            "refseq_ac": "NP_001137919",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG5747-PF",
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                {
                    "name": "Misfire, isoform F",
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                },
                {
                    "name": "mfr-PF",
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                    "name": "misfire, isoform F",
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                    "name": "otoferlin",
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            ],
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                    "name": "mfr",
                    "type": "recommended"
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                    "name": "CG5747",
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                    "name": "Dmel\\CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Otoferlin",
                    "type": "synonym"
                },
                {
                    "name": "mfr",
                    "type": "synonym"
                }
            ],
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                    "id": "0110276",
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                }
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Nuclear hormone receptor HR96",
                    "type": "recommended"
                },
                {
                    "name": "CG11783-PA",
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                },
                {
                    "name": "Hr96-PA",
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                },
                {
                    "name": "Nuclear receptor subfamily 1 group J member 1",
                    "type": "synonym"
                },
                {
                    "name": "dHR96",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor-like in 96",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hr96",
                    "type": "recommended"
                },
                {
                    "name": "CG11783",
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                },
                {
                    "name": "DHR96",
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                },
                {
                    "name": "Dhr96",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11783",
                    "type": "synonym"
                },
                {
                    "name": "HR96",
                    "type": "synonym"
                },
                {
                    "name": "Hr96",
                    "type": "synonym"
                },
                {
                    "name": "NR1J1",
                    "type": "synonym"
                },
                {
                    "name": "dHR96",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24143-1",
            "evidence": [
                {
                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92765-1",
            "uniprot_ac": "Q92765",
            "uniprot_id": "SFRP3_HUMAN",
            "refseq_ac": "NP_001454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted frizzled-related protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Frezzled",
                    "type": "synonym"
                },
                {
                    "name": "Fritz",
                    "type": "synonym"
                },
                {
                    "name": "Frizzled-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FrzB-1",
                    "type": "synonym"
                },
                {
                    "name": "frezzled",
                    "type": "synonym"
                },
                {
                    "name": "frizzled homolog-related",
                    "type": "synonym"
                },
                {
                    "name": "frizzled-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sFRP-3",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted frizzled-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRZB",
                    "type": "recommended"
                },
                {
                    "name": "FIZ",
                    "type": "synonym"
                },
                {
                    "name": "FRE",
                    "type": "synonym"
                },
                {
                    "name": "FRITZ",
                    "type": "synonym"
                },
                {
                    "name": "FRP-3",
                    "type": "synonym"
                },
                {
                    "name": "FRP",
                    "type": "synonym"
                },
                {
                    "name": "FRZB-1",
                    "type": "synonym"
                },
                {
                    "name": "FRZB-PEN",
                    "type": "synonym"
                },
                {
                    "name": "FRZB1",
                    "type": "synonym"
                },
                {
                    "name": "FRZB",
                    "type": "synonym"
                },
                {
                    "name": "FZRB",
                    "type": "synonym"
                },
                {
                    "name": "OS1",
                    "type": "synonym"
                },
                {
                    "name": "SFRP3",
                    "type": "synonym"
                },
                {
                    "name": "SRFP3",
                    "type": "synonym"
                },
                {
                    "name": "hFIZ",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92765-1",
            "evidence": [
                {
                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11473-1",
            "uniprot_ac": "P11473",
            "uniprot_id": "VDR_HUMAN",
            "refseq_ac": "NP_000367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin D3 receptor",
                    "type": "recommended"
                },
                {
                    "name": "1,25-dihydroxyvitamin D3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group I member 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 163",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor isoform VDRA",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VDR",
                    "type": "recommended"
                },
                {
                    "name": "NR1I1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R163",
                    "type": "synonym"
                },
                {
                    "name": "VDR",
                    "type": "synonym"
                }
            ],
            "record_id": "P11473-1",
            "evidence": [
                {
                    "id": "0110276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110276"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110276"
}