{
    "disease_id": "DOID:0111239",
    "recommended_name": {
        "id": "DOID:0111239",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111239",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A10",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111239",
            "name": "MDDGA10",
            "description": ""
        },
        {
            "id": "DOID:0111239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111239",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10",
            "description": ""
        },
        {
            "id": "DOID:0111239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111239",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related",
            "description": ""
        },
        {
            "id": "MONDO:0014022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene."
        },
        {
            "id": "MONDO:0014022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "name": "RXYLT1 muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0014022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",
            "description": ""
        },
        {
            "id": "MONDO:0014022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1",
            "description": ""
        },
        {
            "id": "MONDO:0014022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "name": "MDDGA10",
            "description": ""
        },
        {
            "id": "MIM:615041",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615041",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111239"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111239",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111239",
            "categories": []
        },
        {
            "id": "MONDO:0014022",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014022",
            "categories": []
        },
        {
            "id": "MIM:615041",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615041",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08CD5-1",
            "uniprot_ac": "Q08CD5",
            "uniprot_id": "RXLT1_DANRE",
            "refseq_ac": "NP_001068580",
            "glycoprotein": "no",
            "species": [
                {
                    "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": "0111239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDX6-1",
            "uniprot_ac": "Q8VDX6",
            "uniprot_id": "RXLT1_MOUSE",
            "refseq_ac": "NP_694699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate xylosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rxylt1",
                    "type": "recommended"
                },
                {
                    "name": "6330415D21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rxylt1",
                    "type": "synonym"
                },
                {
                    "name": "Tmem5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDX6-1",
            "evidence": [
                {
                    "id": "0111239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111239"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2B1-1",
            "uniprot_ac": "Q9Y2B1",
            "uniprot_id": "RXLT1_HUMAN",
            "refseq_ac": "NP_001265166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "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 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"
                }
            ],
            "gene_names": [
                {
                    "name": "RXYLT1",
                    "type": "recommended"
                },
                {
                    "name": "HP10481",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA10",
                    "type": "synonym"
                },
                {
                    "name": "RXYLT1",
                    "type": "synonym"
                },
                {
                    "name": "TMEM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2B1-1",
            "evidence": [
                {
                    "id": "0014022",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014022"
                },
                {
                    "id": "615041",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615041"
                },
                {
                    "id": "TMEM5",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/TMEM5/#!details"
                },
                {
                    "id": "0111239",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111239"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111239"
}