{
    "disease_id": "DOID:0060796",
    "recommended_name": {
        "id": "DOID:0060796",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060796",
        "name": "hypomyelinating leukodystrophy 12",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060796",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060796",
            "name": "HLD12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "hypomyelinating leukodystrophy 12",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene."
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "HLD12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "VPS11 leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "hypomyelinating leukodystrophy type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy caused by mutation in VPS11",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy, hypomyelinating, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "name": "leukodystrophy, hypomyelinating, type 12",
            "description": ""
        },
        {
            "id": "MIM:616683",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616683",
            "name": "Leukodystrophy, hypomyelinating, 12",
            "description": "Leukodystrophy, hypomyelinating, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060796"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060796",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060796",
            "categories": []
        },
        {
            "id": "MONDO:0014732",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014732",
            "categories": []
        },
        {
            "id": "MIM:616683",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616683",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TWK3-1",
            "uniprot_ac": "A0AB32TWK3",
            "uniprot_id": "A0AB32TWK3_DANRE",
            "refseq_ac": "XP_068079913",
            "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 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps11",
                    "type": "recommended"
                },
                {
                    "name": "vps11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112329",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TWK3-1",
            "evidence": [
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W86-1",
            "uniprot_ac": "Q91W86",
            "uniprot_id": "VPS11_MOUSE",
            "refseq_ac": "NP_082165",
            "glycoprotein": "no",
            "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 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting 11",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "1200011A11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W86-1",
            "evidence": [
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H270-1",
            "uniprot_ac": "Q9H270",
            "uniprot_id": "VPS11_HUMAN",
            "refseq_ac": "NP_001277114",
            "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 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "RING finger protein 108",
                    "type": "synonym"
                },
                {
                    "name": "VPS11, CORVET/HOPS core subunit",
                    "type": "synonym"
                },
                {
                    "name": "hVPS11",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS11",
                    "type": "recommended"
                },
                {
                    "name": "DYT32",
                    "type": "synonym"
                },
                {
                    "name": "END1",
                    "type": "synonym"
                },
                {
                    "name": "HLD12",
                    "type": "synonym"
                },
                {
                    "name": "PEP5",
                    "type": "synonym"
                },
                {
                    "name": "PP3476",
                    "type": "synonym"
                },
                {
                    "name": "RNF108",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "hVPS11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H270-1",
            "evidence": [
                {
                    "id": "616683",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616683"
                },
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12868-1",
            "uniprot_ac": "P12868",
            "uniprot_id": "PEP5_YEAST",
            "refseq_ac": "NP_013958",
            "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": "E3 ubiquitin-protein ligase PEP5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase Y-deficient protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Histone E3 ligase PEP5",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase PEP5",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar biogenesis protein END1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar morphogenesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 11",
                    "type": "synonym"
                },
                {
                    "name": "tethering complex subunit PEP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEP5",
                    "type": "recommended"
                },
                {
                    "name": "END1",
                    "type": "synonym"
                },
                {
                    "name": "PEP5",
                    "type": "synonym"
                },
                {
                    "name": "VAM1",
                    "type": "synonym"
                },
                {
                    "name": "VPL9",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "VPT11",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.13",
                    "type": "synonym"
                }
            ],
            "record_id": "P12868-1",
            "evidence": [
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTB4-1",
            "uniprot_ac": "D3ZTB4",
            "uniprot_id": "D3ZTB4_RAT",
            "refseq_ac": "NP_001101608",
            "glycoprotein": "yes",
            "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 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS11 CORVET/HOPS core subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTB4-1",
            "evidence": [
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SX81-1",
            "uniprot_ac": "Q8SX81",
            "uniprot_id": "VPS11_DROME",
            "refseq_ac": "NP_730776",
            "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 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG32350-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vps11-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD20292",
                    "type": "synonym"
                },
                {
                    "name": "CG32350",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32350",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                },
                {
                    "name": "vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SX81-1",
            "evidence": [
                {
                    "id": "0060796",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060796"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060796"
}