{
    "disease_id": "DOID:0110265",
    "recommended_name": {
        "id": "DOID:0110265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110265",
        "name": "cataract 31 multiple types",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110265",
            "name": "CTRCT31",
            "description": ""
        },
        {
            "id": "MONDO:0011547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "name": "cataract 31 multiple types",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene."
        },
        {
            "id": "MONDO:0011547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "name": "CHMP4B early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0011547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "name": "CTRCT31",
            "description": ""
        },
        {
            "id": "MONDO:0011547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "name": "early-onset non-syndromic cataract caused by mutation in CHMP4B",
            "description": ""
        },
        {
            "id": "MONDO:0011547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "name": "cataract 31, multiple types",
            "description": ""
        },
        {
            "id": "MIM:605387",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605387",
            "name": "Cataract 31, multiple types",
            "description": "Cataract 31, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110265"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110265",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110265",
            "categories": []
        },
        {
            "id": "MONDO:0011547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011547",
            "categories": []
        },
        {
            "id": "MIM:605387",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605387",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVC4-1",
            "uniprot_ac": "Q7ZVC4",
            "uniprot_id": "CHM4B_DANRE",
            "refseq_ac": "NP_956489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4b",
                    "type": "recommended"
                },
                {
                    "name": "CHMP4b",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chmp4b",
                    "type": "recommended"
                },
                {
                    "name": "chmp4ba",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56112",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVC4-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IQ73-1",
            "uniprot_ac": "Q6IQ73",
            "uniprot_id": "CHM4C_DANRE",
            "refseq_ac": "NP_998622",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4c",
                    "type": "recommended"
                },
                {
                    "name": "CHMP4c",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 4c",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4B",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4c",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 4B",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 4c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chmp4c",
                    "type": "recommended"
                },
                {
                    "name": "c20orf178",
                    "type": "synonym"
                },
                {
                    "name": "chmp4bb",
                    "type": "synonym"
                },
                {
                    "name": "chmp4b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc96b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55566",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IQ73-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D8B3-1",
            "uniprot_ac": "Q9D8B3",
            "uniprot_id": "CHM4B_MOUSE",
            "refseq_ac": "NP_083638",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4b",
                    "type": "recommended"
                },
                {
                    "name": "CHMP4b",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 4B",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp4b",
                    "type": "recommended"
                },
                {
                    "name": "2010012F05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chmp4b",
                    "type": "synonym"
                },
                {
                    "name": "Snf7-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D8B3-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H444-1",
            "uniprot_ac": "Q9H444",
            "uniprot_id": "CHM4B_HUMAN",
            "refseq_ac": "NP_789782",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4b",
                    "type": "recommended"
                },
                {
                    "name": "CHMP4b",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin-modifying protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "SNF7 homolog associated with Alix 1",
                    "type": "synonym"
                },
                {
                    "name": "SNF7-2",
                    "type": "synonym"
                },
                {
                    "name": "Snf7 homologue associated with Alix 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 32-2",
                    "type": "synonym"
                },
                {
                    "name": "Vps32-2",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 4B",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-modifying protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "hSnf7-2",
                    "type": "synonym"
                },
                {
                    "name": "hVps32-2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein-sorting-associated protein 32-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHMP4B",
                    "type": "recommended"
                },
                {
                    "name": "C20orf178",
                    "type": "synonym"
                },
                {
                    "name": "CHMP4A",
                    "type": "synonym"
                },
                {
                    "name": "CHMP4B",
                    "type": "synonym"
                },
                {
                    "name": "CTPP3",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT31",
                    "type": "synonym"
                },
                {
                    "name": "SHAX1",
                    "type": "synonym"
                },
                {
                    "name": "SNF7-2",
                    "type": "synonym"
                },
                {
                    "name": "SNF7",
                    "type": "synonym"
                },
                {
                    "name": "Shax1",
                    "type": "synonym"
                },
                {
                    "name": "VPS32B",
                    "type": "synonym"
                },
                {
                    "name": "Vps32-2",
                    "type": "synonym"
                },
                {
                    "name": "dJ553F4.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H444-1",
            "evidence": [
                {
                    "id": "605387",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605387"
                },
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39929-1",
            "uniprot_ac": "P39929",
            "uniprot_id": "SNF7_YEAST",
            "refseq_ac": "NP_013125",
            "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-sorting protein SNF7",
                    "type": "recommended"
                },
                {
                    "name": "DOA4-independent degradation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT-III subunit protein SNF7",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose nonfermenting protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-sorting-associated protein 32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNF7",
                    "type": "recommended"
                },
                {
                    "name": "DID1",
                    "type": "synonym"
                },
                {
                    "name": "RNS4",
                    "type": "synonym"
                },
                {
                    "name": "SNF7",
                    "type": "synonym"
                },
                {
                    "name": "VPL5",
                    "type": "synonym"
                },
                {
                    "name": "VPS32",
                    "type": "synonym"
                }
            ],
            "record_id": "P39929-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZP83-1",
            "uniprot_ac": "A0A8I5ZP83",
            "uniprot_id": "A0A8I5ZP83_RAT",
            "refseq_ac": "NP_001386586",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4B",
                    "type": "synonym"
                },
                {
                    "name": "charged multivesicular body protein 4b",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp4b",
                    "type": "recommended"
                },
                {
                    "name": "Chmp4b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309846",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565889",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZP83-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9Z8-1",
            "uniprot_ac": "D4A9Z8",
            "uniprot_id": "D4A9Z8_RAT",
            "refseq_ac": "NP_001263385",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromatin modifying protein 4B-like 1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin modifying protein 4B-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chmp4bl1",
                    "type": "recommended"
                },
                {
                    "name": "Chmp4bl1",
                    "type": "synonym"
                },
                {
                    "name": "Chmp4b",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9Z8-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T0Q4-1",
            "uniprot_ac": "Q8T0Q4",
            "uniprot_id": "CHM4_DROME",
            "refseq_ac": "NP_610462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Charged multivesicular body protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CG8055-PA",
                    "type": "synonym"
                },
                {
                    "name": "CHMP4",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT-III complex core component shrb",
                    "type": "synonym"
                },
                {
                    "name": "Protein Shrub",
                    "type": "synonym"
                },
                {
                    "name": "Vps32",
                    "type": "synonym"
                },
                {
                    "name": "shrb-PA",
                    "type": "synonym"
                },
                {
                    "name": "shrub",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shrb",
                    "type": "recommended"
                },
                {
                    "name": "CG8055",
                    "type": "synonym"
                },
                {
                    "name": "CHMP4C",
                    "type": "synonym"
                },
                {
                    "name": "DmSNF2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8055",
                    "type": "synonym"
                },
                {
                    "name": "Dvps32",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT-III",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT",
                    "type": "synonym"
                },
                {
                    "name": "Shrb",
                    "type": "synonym"
                },
                {
                    "name": "Shrub",
                    "type": "synonym"
                },
                {
                    "name": "Snf7/Vps32",
                    "type": "synonym"
                },
                {
                    "name": "Snf7",
                    "type": "synonym"
                },
                {
                    "name": "Vps32",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.180",
                    "type": "synonym"
                },
                {
                    "name": "shrb",
                    "type": "synonym"
                },
                {
                    "name": "vps32/snf7",
                    "type": "synonym"
                },
                {
                    "name": "vps32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T0Q4-1",
            "evidence": [
                {
                    "id": "0110265",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110265"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110265"
}