{
    "disease_id": "DOID:0060271",
    "recommended_name": {
        "id": "DOID:0060271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060271",
        "name": "pontocerebellar hypoplasia type 2E",
        "description": "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia type 2E",
            "description": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene."
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "VPS53 non-syndromic pontocerebellar hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "PCH2E",
            "description": ""
        },
        {
            "id": "MONDO:0014370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "name": "pontocerebellar hypoplasia, type 2E",
            "description": ""
        },
        {
            "id": "MIM:615851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615851",
            "name": "Pontocerebellar hypoplasia 2E",
            "description": "Pontocerebellar hypoplasia 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060271",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060271",
            "categories": []
        },
        {
            "id": "MONDO:0014370",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014370",
            "categories": []
        },
        {
            "id": "MIM:615851",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615851",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5Q0-1",
            "uniprot_ac": "A0ACD6B5Q0",
            "uniprot_id": "A0ACD6B5Q0_DANRE",
            "refseq_ac": "XP_005157637",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 53 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 53 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps53",
                    "type": "recommended"
                },
                {
                    "name": "vps53",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb77d11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103741",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5Q0-1",
            "evidence": [
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CCB4-1",
            "uniprot_ac": "Q8CCB4",
            "uniprot_id": "VPS53_MOUSE",
            "refseq_ac": "NP_080940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 53 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 53 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 53 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps53",
                    "type": "recommended"
                },
                {
                    "name": "2010002A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310040I21Rik",
                    "type": "synonym"
                },
                {
                    "name": "3100002B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hccs1",
                    "type": "synonym"
                },
                {
                    "name": "Vps53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CCB4-1",
            "evidence": [
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VIR6-4",
            "uniprot_ac": "Q5VIR6",
            "uniprot_id": "VPS53_HUMAN",
            "refseq_ac": "NP_001121631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 53 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS53, GARP complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 53 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 53 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS53",
                    "type": "recommended"
                },
                {
                    "name": "HCCS1",
                    "type": "synonym"
                },
                {
                    "name": "PCH2E",
                    "type": "synonym"
                },
                {
                    "name": "PP13624",
                    "type": "synonym"
                },
                {
                    "name": "VPS53",
                    "type": "synonym"
                },
                {
                    "name": "hVps53L",
                    "type": "synonym"
                },
                {
                    "name": "pp13624",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VIR6-4",
            "evidence": [
                {
                    "id": "615851",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615851"
                },
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47061-1",
            "uniprot_ac": "P47061",
            "uniprot_id": "VPS53_YEAST",
            "refseq_ac": "NP_012505",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 53",
                    "type": "recommended"
                },
                {
                    "name": "Vps53p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS53",
                    "type": "recommended"
                },
                {
                    "name": "J1258",
                    "type": "synonym"
                },
                {
                    "name": "VPS53",
                    "type": "synonym"
                }
            ],
            "record_id": "P47061-1",
            "evidence": [
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B4Q5-1",
            "uniprot_ac": "A0A8I6B4Q5",
            "uniprot_id": "A0A8I6B4Q5_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": "Vacuolar protein sorting-associated protein 53 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps53",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6B4Q5-1",
            "evidence": [
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQY8-1",
            "uniprot_ac": "Q9VQY8",
            "uniprot_id": "Q9VQY8_DROME",
            "refseq_ac": "NP_608825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 53 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3338-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vps53-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps53",
                    "type": "recommended"
                },
                {
                    "name": "CG3338",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3338",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3338",
                    "type": "synonym"
                },
                {
                    "name": "Vps53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQY8-1",
            "evidence": [
                {
                    "id": "0060271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060271"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060271"
}