{
    "disease_id": "DOID:0060265",
    "recommended_name": {
        "id": "DOID:0060265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060265",
        "name": "pontocerebellar hypoplasia type 1A",
        "description": "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia type 1A",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene."
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "VRK1 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "PCH1A",
            "description": ""
        },
        {
            "id": "MONDO:0011866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "name": "pontocerebellar hypoplasia, type 1A",
            "description": ""
        },
        {
            "id": "MIM:607596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607596",
            "name": "Pontocerebellar hypoplasia 1A",
            "description": "Pontocerebellar hypoplasia 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060265"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060265",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060265",
            "categories": []
        },
        {
            "id": "MONDO:0011866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011866",
            "categories": []
        },
        {
            "id": "MIM:607596",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607596",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZUS1-1",
            "uniprot_ac": "Q7ZUS1",
            "uniprot_id": "VRK1_DANRE",
            "refseq_ac": "NP_998550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase VRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Vaccinia-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase VRK1",
                    "type": "synonym"
                },
                {
                    "name": "vaccinia related kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vrk1",
                    "type": "recommended"
                },
                {
                    "name": "vrk1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe16f06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56266",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZUS1-1",
            "evidence": [
                {
                    "id": "0060265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X41-1",
            "uniprot_ac": "Q80X41",
            "uniprot_id": "VRK1_MOUSE",
            "refseq_ac": "NP_001025014",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase VRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 51PK",
                    "type": "synonym"
                },
                {
                    "name": "Vaccinia-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase 51PK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase VRK1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase VRK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vrk1",
                    "type": "recommended"
                },
                {
                    "name": "51PK",
                    "type": "synonym"
                },
                {
                    "name": "Gm40568",
                    "type": "synonym"
                },
                {
                    "name": "Gm46378",
                    "type": "synonym"
                },
                {
                    "name": "Vrk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X41-1",
            "evidence": [
                {
                    "id": "0060265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99986-1",
            "uniprot_ac": "Q99986",
            "uniprot_id": "VRK1_HUMAN",
            "refseq_ac": "NP_003375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase VRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Vaccinia-related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase VRK1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase VRK1",
                    "type": "synonym"
                },
                {
                    "name": "vaccinia related kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "vaccinia virus B1R-related kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VRK1",
                    "type": "recommended"
                },
                {
                    "name": "HMNR10",
                    "type": "synonym"
                },
                {
                    "name": "PCH1A",
                    "type": "synonym"
                },
                {
                    "name": "PCH1",
                    "type": "synonym"
                },
                {
                    "name": "VRK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99986-1",
            "evidence": [
                {
                    "id": "607596",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607596"
                },
                {
                    "id": "0060265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5XW39-1",
            "uniprot_ac": "A0A8I5XW39",
            "uniprot_id": "A0A8I5XW39_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase VRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Vaccinia-related kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vrk1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5XW39-1",
            "evidence": [
                {
                    "id": "0060265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KRY6-1",
            "uniprot_ac": "Q7KRY6",
            "uniprot_id": "NHK1_DROME",
            "refseq_ac": "NP_651508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleosomal histone kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG6386-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein baellchen",
                    "type": "synonym"
                },
                {
                    "name": "ball-PA",
                    "type": "synonym"
                },
                {
                    "name": "ballchen, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ballchen",
                    "type": "synonym"
                },
                {
                    "name": "nuclear histone kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "nucleosomal histone kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "triplet",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ball",
                    "type": "recommended"
                },
                {
                    "name": "BALL",
                    "type": "synonym"
                },
                {
                    "name": "Ball",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD09009",
                    "type": "synonym"
                },
                {
                    "name": "CG6386",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6386",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6386",
                    "type": "synonym"
                },
                {
                    "name": "NHK-1",
                    "type": "synonym"
                },
                {
                    "name": "NHK1",
                    "type": "synonym"
                },
                {
                    "name": "VRK",
                    "type": "synonym"
                },
                {
                    "name": "ballchen",
                    "type": "synonym"
                },
                {
                    "name": "ball",
                    "type": "synonym"
                },
                {
                    "name": "nhk-1",
                    "type": "synonym"
                },
                {
                    "name": "trip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KRY6-1",
            "evidence": [
                {
                    "id": "0060265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060265"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060265"
}