{
    "disease_id": "DOID:0110635",
    "recommended_name": {
        "id": "DOID:0110635",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110635",
        "name": "muscular dystrophy-dystroglycanopathy type B5",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "FKRP-related congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "MDC1C",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "MDDGB5",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "congenital muscular dystrophy 1C",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy type B5",
            "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "MDC1C",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "MDDGB5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "congenital muscular dystrophy-FKRP related",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
            "description": ""
        },
        {
            "id": "MIM:606612",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606612",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110635"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110635",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110635",
            "categories": []
        },
        {
            "id": "MONDO:0011688",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "categories": []
        },
        {
            "id": "MIM:606612",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606612",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H9S5-1",
            "uniprot_ac": "Q9H9S5",
            "uniprot_id": "FKRP_HUMAN",
            "refseq_ac": "NP_001034974",
            "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 transferase FKRP",
                    "type": "recommended"
                },
                {
                    "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": "FKRP",
                    "type": "synonym"
                },
                {
                    "name": "FKTR",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2I",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR9",
                    "type": "synonym"
                },
                {
                    "name": "MDC1C",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA5",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB5",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9S5-1",
            "evidence": [
                {
                    "id": "79147",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79147#disease"
                },
                {
                    "id": "0011688",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011688"
                },
                {
                    "id": "606612",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606612"
                },
                {
                    "id": "FKRP",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details"
                },
                {
                    "id": "0110635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110635"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "Q8CG64-1",
            "evidence": [
                {
                    "id": "0110635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLJ4-1",
            "uniprot_ac": "Q4KLJ4",
            "uniprot_id": "Q4KLJ4_RAT",
            "refseq_ac": "NP_001020849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "recommended"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkrp",
                    "type": "recommended"
                },
                {
                    "name": "Fkrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLJ4-1",
            "evidence": [
                {
                    "id": "0110635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2P2-1",
            "uniprot_ac": "Q9W2P2",
            "uniprot_id": "Q9W2P2_DROME",
            "refseq_ac": "NP_611531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FKRP stem domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15651-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15651",
                    "type": "recommended"
                },
                {
                    "name": "CG15651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15651",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2P2-1",
            "evidence": [
                {
                    "id": "0110635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110635"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110635"
}