{
    "disease_id": "DOID:0111235",
    "recommended_name": {
        "id": "DOID:0111235",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111235",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A12",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111235",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related",
            "description": ""
        },
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111235",
            "name": "MDDGA12",
            "description": ""
        },
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111235",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene."
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "POMK muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "MDDGA12",
            "description": ""
        },
        {
            "id": "MIM:615249",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615249",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111235"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111235",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111235",
            "categories": []
        },
        {
            "id": "MONDO:0014101",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "categories": []
        },
        {
            "id": "MIM:615249",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615249",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3W1-1",
            "uniprot_ac": "Q5U3W1",
            "uniprot_id": "SG196_DANRE",
            "refseq_ac": "NP_001007415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannose kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.183",
                    "type": "synonym"
                },
                {
                    "name": "POMK",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 196",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannose kinase",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "sugen kinase 196",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomk",
                    "type": "recommended"
                },
                {
                    "name": "pomk",
                    "type": "synonym"
                },
                {
                    "name": "sgk196",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc58e12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101572",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3W1-1",
            "evidence": [
                {
                    "id": "0111235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TUA9-1",
            "uniprot_ac": "Q3TUA9",
            "uniprot_id": "SG196_MOUSE",
            "refseq_ac": "NP_083313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannose kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.183",
                    "type": "synonym"
                },
                {
                    "name": "POMK",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 196",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannose kinase",
                    "type": "synonym"
                },
                {
                    "name": "sugen kinase 196",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomk",
                    "type": "recommended"
                },
                {
                    "name": "4930444A02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pomk",
                    "type": "synonym"
                },
                {
                    "name": "Sgk196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TUA9-1",
            "evidence": [
                {
                    "id": "0111235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5K3-1",
            "uniprot_ac": "Q9H5K3",
            "uniprot_id": "SG196_HUMAN",
            "refseq_ac": "NP_001264900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannose kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.183",
                    "type": "synonym"
                },
                {
                    "name": "POMK",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 196",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannose kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMK",
                    "type": "recommended"
                },
                {
                    "name": "MDDGA12",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC12",
                    "type": "synonym"
                },
                {
                    "name": "POMK",
                    "type": "synonym"
                },
                {
                    "name": "SGK196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H5K3-1",
            "evidence": [
                {
                    "id": "0014101",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014101"
                },
                {
                    "id": "615249",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615249"
                },
                {
                    "id": "POMK",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMK/#!details"
                },
                {
                    "id": "0111235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111235"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8A9-1",
            "uniprot_ac": "Q4V8A9",
            "uniprot_id": "SG196_RAT",
            "refseq_ac": "NP_001020054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannose kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.183",
                    "type": "synonym"
                },
                {
                    "name": "POMK",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 196",
                    "type": "synonym"
                },
                {
                    "name": "probable inactive protein kinase-like protein SgK196",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannose kinase",
                    "type": "synonym"
                },
                {
                    "name": "sugen kinase 196",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomk",
                    "type": "recommended"
                },
                {
                    "name": "Pomk",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310810",
                    "type": "synonym"
                },
                {
                    "name": "Sgk196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8A9-1",
            "evidence": [
                {
                    "id": "0111235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111235"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111235"
}