{
    "disease_id": "DOID:0110718",
    "recommended_name": {
        "id": "DOID:0110718",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110718",
        "name": "Warburg micro syndrome 3",
        "description": "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110718",
            "name": "Micro Syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0110718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110718",
            "name": "WARBM3",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "Warburg micro syndrome 3",
            "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene."
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "RAB18 Warburg micro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "WARBM3",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "Warburg micro syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "Warburg micro syndrome caused by mutation in RAB18",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "Warburg micro syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "name": "micro syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:614222",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614222",
            "name": "Warburg micro syndrome 3",
            "description": "Warburg micro syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110718"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110718",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110718",
            "categories": []
        },
        {
            "id": "MONDO:0013638",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013638",
            "categories": []
        },
        {
            "id": "MIM:614222",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614222",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DHC1-1",
            "uniprot_ac": "Q6DHC1",
            "uniprot_id": "RB18B_DANRE",
            "refseq_ac": "NP_001003449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-18-B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rab18b",
                    "type": "recommended"
                },
                {
                    "name": "rab18b",
                    "type": "synonym"
                },
                {
                    "name": "rab18",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92523",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DHC1-1",
            "evidence": [
                {
                    "id": "0110718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35293-1",
            "uniprot_ac": "P35293",
            "uniprot_id": "RAB18_MOUSE",
            "refseq_ac": "NP_851415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-18",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Rab18",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab18",
                    "type": "recommended"
                },
                {
                    "name": "Rab18",
                    "type": "synonym"
                }
            ],
            "record_id": "P35293-1",
            "evidence": [
                {
                    "id": "0110718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NP72-1",
            "uniprot_ac": "Q9NP72",
            "uniprot_id": "RAB18_HUMAN",
            "refseq_ac": "NP_001243339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-18",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "RAB18 small GTPase",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB18",
                    "type": "recommended"
                },
                {
                    "name": "RAB18LI1",
                    "type": "synonym"
                },
                {
                    "name": "RAB18",
                    "type": "synonym"
                },
                {
                    "name": "WARBM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP72-1",
            "evidence": [
                {
                    "id": "614222",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614222"
                },
                {
                    "id": "0110718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EB77-1",
            "uniprot_ac": "Q5EB77",
            "uniprot_id": "RAB18_RAT",
            "refseq_ac": "NP_001012486",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-18",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab18",
                    "type": "recommended"
                },
                {
                    "name": "Rab18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EB77-1",
            "evidence": [
                {
                    "id": "0110718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4A0-1",
            "uniprot_ac": "Q9W4A0",
            "uniprot_id": "Q9W4A0_DROME",
            "refseq_ac": "NP_524744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3129-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab18-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab18",
                    "type": "synonym"
                },
                {
                    "name": "rab-related protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab18",
                    "type": "recommended"
                },
                {
                    "name": "24639915",
                    "type": "synonym"
                },
                {
                    "name": "AAF46057",
                    "type": "synonym"
                },
                {
                    "name": "CG3129",
                    "type": "synonym"
                },
                {
                    "name": "DRABR4",
                    "type": "synonym"
                },
                {
                    "name": "DRabRP4",
                    "type": "synonym"
                },
                {
                    "name": "DmRab18",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3129",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3129",
                    "type": "synonym"
                },
                {
                    "name": "O18337",
                    "type": "synonym"
                },
                {
                    "name": "RP4",
                    "type": "synonym"
                },
                {
                    "name": "Rab-RP4",
                    "type": "synonym"
                },
                {
                    "name": "Rab-r4",
                    "type": "synonym"
                },
                {
                    "name": "Rab18/RP4",
                    "type": "synonym"
                },
                {
                    "name": "Rab18",
                    "type": "synonym"
                },
                {
                    "name": "rab18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4A0-1",
            "evidence": [
                {
                    "id": "0110718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110718"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110718"
}