{
    "disease_id": "DOID:0050560",
    "recommended_name": {
        "id": "DOID:0050560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050560",
        "name": "Walker-Warburg syndrome",
        "description": "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1."
    },
    "synonyms": [
        {
            "id": "DOID:0050560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050560",
            "name": "HARD syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050560",
            "name": "cerebroocular dysplasia-muscular dystrophy syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050560"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050560",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050560",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0JPF9-1",
            "uniprot_ac": "A0JPF9",
            "uniprot_id": "ISPD_DANRE",
            "refseq_ac": "NP_001071270",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crppa",
                    "type": "recommended"
                },
                {
                    "name": "crppa",
                    "type": "synonym"
                },
                {
                    "name": "ispd",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu371",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154151",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JPF9-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "L7YAI7-1",
            "uniprot_ac": "L7YAI7",
            "uniprot_id": "B4GA1_DANRE",
            "refseq_ac": "NP_001265757",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-glucuronyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "I-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-N-acetylglycosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b4gat1",
                    "type": "recommended"
                },
                {
                    "name": "b3gnt1",
                    "type": "synonym"
                },
                {
                    "name": "b4gat1",
                    "type": "synonym"
                }
            ],
            "record_id": "L7YAI7-1",
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                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08CD5-1",
            "uniprot_ac": "Q08CD5",
            "uniprot_id": "RXLT1_DANRE",
            "refseq_ac": "NP_001068580",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate xylosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.61",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 5",
                    "type": "synonym"
                },
                {
                    "name": "UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rxylt1",
                    "type": "recommended"
                },
                {
                    "name": "rxylt1",
                    "type": "synonym"
                },
                {
                    "name": "tmem5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153239",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08CD5-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QF89-1",
            "uniprot_ac": "F1QF89",
            "uniprot_id": "POMT1_DANRE",
            "refseq_ac": "NP_001041532",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "pomt1",
                    "type": "recommended"
                },
                {
                    "name": "pomt1",
                    "type": "synonym"
                },
                {
                    "name": "zPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153731",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QNB2-1",
            "uniprot_ac": "F1QNB2",
            "uniprot_id": "F1QNB2_DANRE",
            "refseq_ac": "NP_001036152",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-Mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomgnt1",
                    "type": "recommended"
                },
                {
                    "name": "im:7151461",
                    "type": "synonym"
                },
                {
                    "name": "pomgnt1",
                    "type": "synonym"
                },
                {
                    "name": "zPOMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158130",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNB2-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q8R9-1",
            "uniprot_ac": "F1Q8R9",
            "uniprot_id": "POMT2_DANRE",
            "refseq_ac": "NP_001038498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomt2",
                    "type": "recommended"
                },
                {
                    "name": "im:7153045",
                    "type": "synonym"
                },
                {
                    "name": "pomt2",
                    "type": "synonym"
                },
                {
                    "name": "zPOMT2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158749",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8R9-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7UT91-1",
            "uniprot_ac": "A0A8N7UT91",
            "uniprot_id": "A0A8N7UT91_DANRE",
            "refseq_ac": "XP_694040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Collagen alpha-1(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IV) chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col4a1",
                    "type": "recommended"
                },
                {
                    "name": "col4a1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UT91-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X88-1",
            "uniprot_ac": "Q91X88",
            "uniprot_id": "PMGT1_MOUSE",
            "refseq_ac": "NP_001277587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "O-mannosyl N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomgnt1",
                    "type": "recommended"
                },
                {
                    "name": "0610016I07Rik",
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                },
                {
                    "name": "4930467B06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pomgnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X88-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02463-1",
            "uniprot_ac": "P02463",
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            "refseq_ac": "NP_034061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha-1 type IV collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha1(IV) collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a1",
                    "type": "recommended"
                },
                {
                    "name": "Bru",
                    "type": "synonym"
                },
                {
                    "name": "Col4a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col4a1",
                    "type": "synonym"
                },
                {
                    "name": "Raw",
                    "type": "synonym"
                },
                {
                    "name": "Svc",
                    "type": "synonym"
                }
            ],
            "record_id": "P02463-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CG64-1",
            "uniprot_ac": "Q8CG64",
            "uniprot_id": "FKRP_MOUSE",
            "refseq_ac": "NP_775606",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol 5-phosphate transferase FKRP",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkrp",
                    "type": "recommended"
                },
                {
                    "name": "A830029B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fkrp",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1I",
                    "type": "synonym"
                },
                {
                    "name": "MDC1C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R507-1",
            "uniprot_ac": "Q8R507",
            "uniprot_id": "FKTN_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase FKTN",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy (fukutin)",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fktn",
                    "type": "recommended"
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                {
                    "name": "D830030O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fcmd",
                    "type": "synonym"
                },
                {
                    "name": "Fktn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R507-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2R1-1",
            "uniprot_ac": "Q8R2R1",
            "uniprot_id": "POMT1_MOUSE",
            "refseq_ac": "NP_660127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomt1",
                    "type": "recommended"
                },
                {
                    "name": "Pomt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2R1-1",
            "evidence": [
                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGQ4-1",
            "uniprot_ac": "Q8BGQ4",
            "uniprot_id": "POMT2_MOUSE",
            "refseq_ac": "NP_700464",
            "glycoprotein": "yes",
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                {
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                }
            ],
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                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
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                {
                    "name": "2.7.7.40",
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                {
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                {
                    "name": "isoprenoid synthase domain-containing protein",
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                    "name": "notch1-induced protein",
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                {
                    "name": "Crppa",
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                    "name": "Crppa",
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                {
                    "name": "Ispd",
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                {
                    "name": "Nip",
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                }
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                    "id": "0050560",
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                }
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                {
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                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
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                {
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                    "name": "B4gat1",
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                {
                    "name": "B4gat1",
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                {
                    "name": "LOC100911750",
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                }
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                    "id": "0050560",
                    "database": "AGR",
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                }
            ]
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                    "taxid": 10116,
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                }
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                    "name": "Collagen type IV alpha 1 chain",
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                {
                    "name": "alpha 1 type IV collagen",
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                {
                    "name": "collagen alpha-1(IV) chain precursor",
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                },
                {
                    "name": "collagen alpha-1(IV) chain",
                    "type": "synonym"
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                {
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                }
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                {
                    "name": "Col4a1",
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                {
                    "name": "Col4a1",
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                }
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                    "id": "0050560",
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                }
            ]
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                }
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                {
                    "name": "brain derived neurothrophic factor",
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                {
                    "name": "neurotrophic factor BDNF precursor form isoform 1",
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                {
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                    "name": "Bdnf",
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                {
                    "name": "Bdnf",
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                    "id": "0050560",
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                {
                    "name": "Dmel\\CG15651",
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                {
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                    "id": "0050560",
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                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
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                    "name": "drosophila protein O-mannosyltransferase 1",
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                    "name": "roa",
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                    "id": "0050560",
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                {
                    "name": "protein O-mannosyl-transferase 1",
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                {
                    "name": "testis tissue sperm-binding protein Li 57p",
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                {
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                    "type": "synonym"
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                {
                    "name": "MDDGB1",
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                {
                    "name": "MDDGC1",
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                {
                    "name": "POMT1",
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                {
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                }
            ],
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                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
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            ]
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            "uniprot_canonical_ac": "Q9Y2B1-1",
            "uniprot_ac": "Q9Y2B1",
            "uniprot_id": "RXLT1_HUMAN",
            "refseq_ac": "NP_001265166",
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            "species": [
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate xylosyltransferase 1",
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                {
                    "name": "2.4.2.61",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 5",
                    "type": "synonym"
                },
                {
                    "name": "UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate xylosyltransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 5",
                    "type": "synonym"
                },
                {
                    "name": "type II membrane protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "RXYLT1",
                    "type": "recommended"
                },
                {
                    "name": "HP10481",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA10",
                    "type": "synonym"
                },
                {
                    "name": "RXYLT1",
                    "type": "synonym"
                },
                {
                    "name": "TMEM5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        },
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
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                {
                    "name": "2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.40",
                    "type": "synonym"
                },
                {
                    "name": "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "D-ribitol-5-phosphate cytidylyltransferase",
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                },
                {
                    "name": "Isoprenoid synthase domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "hISPD",
                    "type": "synonym"
                },
                {
                    "name": "isoprenoid synthase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "notch1-induced protein",
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                },
                {
                    "name": "testicular tissue protein Li 97",
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                }
            ],
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                    "name": "CRPPA",
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                {
                    "name": "CRPPA",
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                {
                    "name": "LGMDR20",
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                {
                    "name": "MDDGA7",
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                {
                    "name": "MDDGC7",
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                {
                    "name": "Nip",
                    "type": "synonym"
                },
                {
                    "name": "hISPD",
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                }
            ],
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                {
                    "id": "0050560",
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                }
            ]
        },
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                }
            ],
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                {
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                },
                {
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                },
                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
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                {
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                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6",
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                {
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                {
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                {
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                    "type": "synonym"
                },
                {
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                {
                    "name": "poly-N-acetyllactosamine extension enzyme",
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                }
            ],
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                },
                {
                    "name": "B3GNT1",
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                {
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                {
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                {
                    "name": "BETA3GNTI",
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                {
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                {
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                }
            ],
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                    "id": "0050560",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "arresten",
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                {
                    "name": "collagen IV, alpha-1 polypeptide",
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                {
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                {
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                    "id": "0050560",
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                {
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                },
                {
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                {
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                {
                    "name": "LGMDR15",
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                {
                    "name": "MEB",
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                {
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                    "name": "POMGNT1",
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                {
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                {
                    "name": "RP76",
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                {
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                }
            ],
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                    "id": "0050560",
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            ]
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            ],
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                {
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                {
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                {
                    "name": "MDDGB4",
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                {
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                    "id": "0050560",
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                }
            ]
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                }
            ],
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                {
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                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
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                {
                    "name": "ribitol-5-phosphate transferase",
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                }
            ],
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                },
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                    "name": "FKTR",
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                },
                {
                    "name": "LGMD2I",
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                {
                    "name": "LGMDR9",
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                },
                {
                    "name": "MDC1C",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA5",
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                {
                    "name": "MDDGB5",
                    "type": "synonym"
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                {
                    "name": "MDDGC5",
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                }
            ],
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                    "id": "0050560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050560"
}