{
    "disease_id": "DOID:0110719",
    "recommended_name": {
        "id": "DOID:0110719",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110719",
        "name": "Warburg micro syndrome 4",
        "description": "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110719",
            "name": "Micro Syndrome 4",
            "description": ""
        },
        {
            "id": "DOID:0110719",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110719",
            "name": "WARBM4",
            "description": ""
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "Warburg micro syndrome 4",
            "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene."
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "TBC1D20 Warburg micro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "WARBM4",
            "description": ""
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "Warburg micro syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "Warburg micro syndrome caused by mutation in TBC1D20",
            "description": ""
        },
        {
            "id": "MONDO:0014296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "name": "Warburg micro syndrome type 4",
            "description": ""
        },
        {
            "id": "MIM:615663",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615663",
            "name": "Warburg micro syndrome 4",
            "description": "Warburg micro syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110719"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110719",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110719",
            "categories": []
        },
        {
            "id": "MONDO:0014296",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014296",
            "categories": []
        },
        {
            "id": "MIM:615663",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615663",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D9I4-1",
            "uniprot_ac": "Q9D9I4",
            "uniprot_id": "TBC20_MOUSE",
            "refseq_ac": "NP_077158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 20",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d20",
                    "type": "recommended"
                },
                {
                    "name": "1110028I04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810442O16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d20",
                    "type": "synonym"
                },
                {
                    "name": "bs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9I4-1",
            "evidence": [
                {
                    "id": "0110719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96BZ9-1",
            "uniprot_ac": "Q96BZ9",
            "uniprot_id": "TBC20_HUMAN",
            "refseq_ac": "NP_653229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 20",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D20",
                    "type": "recommended"
                },
                {
                    "name": "C20orf140",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D20",
                    "type": "synonym"
                },
                {
                    "name": "WARBM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BZ9-1",
            "evidence": [
                {
                    "id": "615663",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615663"
                },
                {
                    "id": "0110719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43570-1",
            "uniprot_ac": "P43570",
            "uniprot_id": "GYP8_YEAST",
            "refseq_ac": "NP_444296",
            "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": "GTPase-activating protein GYP8",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein GYP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GYP8",
                    "type": "recommended"
                },
                {
                    "name": "GYP8",
                    "type": "synonym"
                }
            ],
            "record_id": "P43570-1",
            "evidence": [
                {
                    "id": "0110719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110719"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NN82-1",
            "uniprot_ac": "A0ABZ3NN82",
            "uniprot_id": "A0ABZ3NN82_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": "TBC1 domain family, member 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d20",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABZ3NN82-1",
            "evidence": [
                {
                    "id": "0110719",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110719"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110719"
}