{
    "disease_id": "DOID:0111231",
    "recommended_name": {
        "id": "DOID:0111231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111231",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A8",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8",
            "description": ""
        },
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "MDDGA8",
            "description": ""
        },
        {
            "id": "DOID:0111231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene."
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "POMGNT2 muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscle-eye-brain-POMGNT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2",
            "description": ""
        },
        {
            "id": "MONDO:0013904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "name": "MDDGA8",
            "description": ""
        },
        {
            "id": "MIM:614830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614830",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111231",
            "categories": []
        },
        {
            "id": "MONDO:0013904",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013904",
            "categories": []
        },
        {
            "id": "MIM:614830",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614830",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5NDE5-1",
            "uniprot_ac": "Q5NDE5",
            "uniprot_id": "PMGT2_DANRE",
            "refseq_ac": "",
            "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-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.312",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular O-linked N-acetylglucosamine transferase-like",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomgnt2",
                    "type": "recommended"
                },
                {
                    "name": "ago61",
                    "type": "synonym"
                },
                {
                    "name": "glyt",
                    "type": "synonym"
                },
                {
                    "name": "gtdc2",
                    "type": "synonym"
                },
                {
                    "name": "im:7153239",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112079",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NDE5-1",
            "evidence": [
                {
                    "id": "0111231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BW41-1",
            "uniprot_ac": "Q8BW41",
            "uniprot_id": "PMGT2_MOUSE",
            "refseq_ac": "NP_001276487",
            "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-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.312",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular O-linked N-acetylglucosamine transferase-like",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomgnt2",
                    "type": "recommended"
                },
                {
                    "name": "Ago61",
                    "type": "synonym"
                },
                {
                    "name": "Eogtl",
                    "type": "synonym"
                },
                {
                    "name": "Gtdc2",
                    "type": "synonym"
                },
                {
                    "name": "Pomgnt2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BW41-1",
            "evidence": [
                {
                    "id": "0111231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NAT1-1",
            "uniprot_ac": "Q8NAT1",
            "uniprot_id": "PMGT2_HUMAN",
            "refseq_ac": "NP_116195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.312",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular O-linked N-acetylglucosamine transferase-like",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMGNT2",
                    "type": "recommended"
                },
                {
                    "name": "AGO61",
                    "type": "synonym"
                },
                {
                    "name": "C3orf39",
                    "type": "synonym"
                },
                {
                    "name": "EOGTL",
                    "type": "synonym"
                },
                {
                    "name": "GTDC2",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA8",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC8",
                    "type": "synonym"
                },
                {
                    "name": "POMGNT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NAT1-1",
            "evidence": [
                {
                    "id": "0013904",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013904"
                },
                {
                    "id": "614830",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614830"
                },
                {
                    "id": "POMGNT2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT2/#!details"
                },
                {
                    "id": "0111231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NDF0-1",
            "uniprot_ac": "Q5NDF0",
            "uniprot_id": "PMGT2_RAT",
            "refseq_ac": "NP_001009437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.312",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular O-linked N-acetylglucosamine transferase-like",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomgnt2",
                    "type": "recommended"
                },
                {
                    "name": "Ago61",
                    "type": "synonym"
                },
                {
                    "name": "Gtdc2",
                    "type": "synonym"
                },
                {
                    "name": "Pomgnt2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304827",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NDF0-1",
            "evidence": [
                {
                    "id": "0111231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111231"
}