{
    "disease_id": "DOID:0110717",
    "recommended_name": {
        "id": "DOID:0110717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110717",
        "name": "Warburg micro syndrome 2",
        "description": "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0110717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110717",
            "name": "Micro Syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0110717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110717",
            "name": "WARBM2",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "Warburg micro syndrome 2",
            "description": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene."
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "RAB3GAP2 Warburg micro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "WARBM2",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "Warburg micro syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "Warburg micro syndrome caused by mutation in RAB3GAP2",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "Warburg micro syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "name": "micro syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:614225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614225",
            "name": "Warburg micro syndrome 2",
            "description": "Warburg micro syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110717",
            "categories": []
        },
        {
            "id": "MONDO:0013641",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013641",
            "categories": []
        },
        {
            "id": "MIM:614225",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614225",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YTS4-1",
            "uniprot_ac": "A0A8M6YTS4",
            "uniprot_id": "A0A8M6YTS4_DANRE",
            "refseq_ac": "XP_017207090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein non-catalytic subunit isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein non-catalytic subunit isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rab3gap2",
                    "type": "recommended"
                },
                {
                    "name": "RAB3GAP",
                    "type": "synonym"
                },
                {
                    "name": "RAB3",
                    "type": "synonym"
                },
                {
                    "name": "rab3gap2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-214p16.5",
                    "type": "synonym"
                },
                {
                    "name": "si:zc214p16.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb94b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158161",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YTS4-1",
            "evidence": [
                {
                    "id": "0110717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMG7-1",
            "uniprot_ac": "Q8BMG7",
            "uniprot_id": "RBGPR_MOUSE",
            "refseq_ac": "NP_001157226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "Rab3 GTPase-activating protein 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP p150",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP p150",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab3gap2",
                    "type": "recommended"
                },
                {
                    "name": "1110059F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "2010002H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830469C09",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0839",
                    "type": "synonym"
                },
                {
                    "name": "RAB3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "Rab3gap2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0839",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMG7-1",
            "evidence": [
                {
                    "id": "0110717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2M9-1",
            "uniprot_ac": "Q9H2M9",
            "uniprot_id": "RBGPR_HUMAN",
            "refseq_ac": "NP_036546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "RAB3 GTPase activating protein subunit 2 (non-catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "RGAP-iso",
                    "type": "synonym"
                },
                {
                    "name": "Rab3 GTPase-activating protein 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP p150",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP p150",
                    "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": "614225",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614225"
                },
                {
                    "id": "0110717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U1Z0-1",
            "uniprot_ac": "Q5U1Z0",
            "uniprot_id": "RBGPR_RAT",
            "refseq_ac": "NP_001035244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "RAB3 GTPase activating protein subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "RAB3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "Rab3 GTPase-activating protein 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP p150",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP150",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP p150",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab3gap2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311518",
                    "type": "synonym"
                },
                {
                    "name": "Rab3gap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U1Z0-1",
            "evidence": [
                {
                    "id": "0110717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKB9-1",
            "uniprot_ac": "Q9VKB9",
            "uniprot_id": "RBGPR_DROME",
            "refseq_ac": "NP_609544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rab3 GTPase-activating protein non-catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG7061-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rab3 GTPase activating protein, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rab3 GTPase-activating protein regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP-PA",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab3-GAP",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD23336",
                    "type": "synonym"
                },
                {
                    "name": "CG7061",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7061",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-GAP",
                    "type": "synonym"
                },
                {
                    "name": "Rab3GAP2",
                    "type": "synonym"
                },
                {
                    "name": "rab3-GAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKB9-1",
            "evidence": [
                {
                    "id": "0110717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110717"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110717"
}