{
    "disease_id": "DOID:0060237",
    "recommended_name": {
        "id": "DOID:0060237",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060237",
        "name": "Warburg micro syndrome",
        "description": "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism."
    },
    "synonyms": [
        {
            "id": "DOID:0060237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060237",
            "name": "WARBM",
            "description": ""
        },
        {
            "id": "DOID:0060237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060237",
            "name": "Warburg-Sjo-Fledelius syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060237",
            "name": "micro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "Warburg micro syndrome 1",
            "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene."
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "RAB3GAP1 Warburg micro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "WARBM1",
            "description": ""
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "Warburg micro syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "Warburg micro syndrome caused by mutation in RAB3GAP1",
            "description": ""
        },
        {
            "id": "MONDO:0010822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "name": "Warburg micro syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:600118",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600118",
            "name": "Warburg micro syndrome 1",
            "description": "Warburg micro syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0110716",
            "label": "Warburg micro syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110717",
            "label": "Warburg micro syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110718",
            "label": "Warburg micro syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110719",
            "label": "Warburg micro syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110718",
        "DOID:0110719",
        "DOID:0110717",
        "DOID:0060237",
        "DOID:0110716"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060237",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060237",
            "categories": []
        },
        {
            "id": "MONDO:0010822",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010822",
            "categories": []
        },
        {
            "id": "MIM:600118",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600118",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q6NUV0",
            "uniprot_id": "RB3GP_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                },
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                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
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                    "name": "rab3gap1",
                    "type": "synonym"
                },
                {
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                {
                    "name": "wu:fj56a04",
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                },
                {
                    "name": "zgc:152826",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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                }
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                    "name": "Rab3 GTPase-activating protein non-catalytic subunit isoform X1",
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            ],
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                    "name": "rab3gap2",
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                    "name": "rab3gap2",
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                    "name": "si:ch211-214p16.5",
                    "type": "synonym"
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                {
                    "name": "si:zc214p16.5",
                    "type": "synonym"
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                {
                    "name": "wu:fb94b08",
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                {
                    "name": "zgc:158161",
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                }
            ],
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                    "id": "0060237",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UJ7-1",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Rab3 GTPase-activating protein catalytic subunit",
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                {
                    "name": "RAB3 GTPase-activating protein 130 kDa subunit",
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                {
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                    "type": "synonym"
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                {
                    "name": "Rab3-GAP",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein catalytic subunit",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rab3gap1",
                    "type": "recommended"
                },
                {
                    "name": "1700003B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "4732493F09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0066",
                    "type": "synonym"
                },
                {
                    "name": "Rab3gap1",
                    "type": "synonym"
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                {
                    "name": "Rab3gap",
                    "type": "synonym"
                },
                {
                    "name": "p130",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP p130",
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                }
            ],
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                {
                    "id": "0060237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMG7-1",
            "uniprot_ac": "Q8BMG7",
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            "glycoprotein": "yes",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
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                },
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                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
                    "name": "rab3 GTPase-activating protein non-catalytic subunit",
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                {
                    "name": "rab3-GAP p150",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rab3gap2",
                    "type": "recommended"
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                    "name": "1110059F07Rik",
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                {
                    "name": "2010002H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830469C09",
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                },
                {
                    "name": "Kiaa0839",
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                {
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                {
                    "name": "Rab3gap2",
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                },
                {
                    "name": "mKIAA0839",
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                }
            ],
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                    "id": "0060237",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060237"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q15042-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "RAB3 GTPase activating protein subunit 1 (catalytic)",
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                },
                {
                    "name": "RAB3 GTPase-activating protein 130 kDa subunit",
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                },
                {
                    "name": "Rab3-GAP p130",
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                {
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                {
                    "name": "rab3 GTPase-activating protein catalytic subunit isoform 1",
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                },
                {
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                }
            ],
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                    "name": "KIAA0066",
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                },
                {
                    "name": "MARTS2",
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                {
                    "name": "P130",
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                {
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            ],
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                    "id": "600118",
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                {
                    "id": "0060237",
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        {
            "uniprot_canonical_ac": "P69735-1",
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                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "RGD1306487",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "CG31935",
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                {
                    "name": "CG7373",
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                {
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                    "id": "0060237",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060237"
                }
            ]
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "recommended"
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                    "name": "RAB3 GTPase activating protein subunit 2 (non-catalytic)",
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                {
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                {
                    "name": "Rab3-GAP p150",
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                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB3GAP2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0839",
                    "type": "synonym"
                },
                {
                    "name": "MARTS1",
                    "type": "synonym"
                },
                {
                    "name": "RAB3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "RAB3GAP150",
                    "type": "synonym"
                },
                {
                    "name": "RAB3GAP2",
                    "type": "synonym"
                },
                {
                    "name": "SPG69",
                    "type": "synonym"
                },
                {
                    "name": "WARBM2",
                    "type": "synonym"
                },
                {
                    "name": "p150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2M9-1",
            "evidence": [
                {
                    "id": "0060237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060237"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060237"
}