{
    "disease_id": "DOID:0051001",
    "recommended_name": {
        "id": "DOID:0051001",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051001",
        "name": "congenital dyserythropoietic anemia type IIIb",
        "description": "A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "CDA, IIA IIIB",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "CDAN3B",
            "description": ""
        },
        {
            "id": "MONDO:0030711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "name": "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:619789",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619789",
            "name": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive",
            "description": "Anemia, congenital dyserythropoietic, 3B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051001"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051001",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051001",
            "categories": []
        },
        {
            "id": "MONDO:0030711",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030711",
            "categories": []
        },
        {
            "id": "MIM:619789",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619789",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P40809-1",
            "uniprot_ac": "P40809",
            "uniprot_id": "RG84C_DROME",
            "refseq_ac": "NP_476703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase-activating protein RacGAP84C",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG2595-PB; RacGAP84C-PB; rotund RacGAP; RotundRACGAP; RnRacGAP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Protein rotund RacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rac GTPase activating protein at 84C, isoform B",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RacGAP84C",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG2595; Dmel\\CG2595; GAP84C; P1.7; racGAP; RacGAP(84C); RhoGAP-84C8; rnGAP; rnprot; rnprot1.7; rnRac-GAP; rnracGap; rnracGAP; rnRacGap; rnRacGAP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG2595",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGAP84C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rnRacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9I5-1",
            "uniprot_ac": "A1Z9I5",
            "uniprot_id": "A1Z9I5_DROME",
            "refseq_ac": "NP_610912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13345-PA; tum-PA; enhancer of naked; RacGap50C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FI24033p1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tumbleweed",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tumbleweed",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tum",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "13345; acGAP; AcGAP; CG13345; Dmel\\CG13345; DRacGAP; eon; i249; RacGap; RacGAP; racGAP50; racGAP50c; racGAP50C; RacGap50C; RacGAP50c; RacGAP50C; RhoGAP-50C14; Tum; TUM; Tumbleweed",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "13345",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AcGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG13345",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13345",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13345",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGAP50C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGAP50c",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGap50C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RacGap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RhoGAP-50C14",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TUM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tumbleweed",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tum",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "acGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "eon",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "i249",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "racGAP50C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "racGAP50c",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "racGAP50",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tum-RA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tum",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVM1-1",
            "uniprot_ac": "Q9WVM1",
            "uniprot_id": "RGAP1_MOUSE",
            "refseq_ac": "NP_001240737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rac GTPase-activating protein 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Male germ cell RacGap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MgcRacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "male germ cell RacGap",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rac GTPase-activating protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Racgap1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Band25; gtl11; GTPase; MgcRacGAP; mKIAA1478",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Mgcracgap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Racgap1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0H5-1",
            "uniprot_ac": "Q9H0H5",
            "uniprot_id": "RGAP1_HUMAN",
            "refseq_ac": "NP_001119575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rac GTPase-activating protein 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CYK4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HsCYK-4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Male germ cell RacGap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MgcRacGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein CYK4 homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "male germ cell RacGap; protein CYK4 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rac GTPase-activating protein 1 isoform a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RACGAP1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CDAN3B; CYK4; HsCYK-4; ID-GAP; MgcRacGAP; RCGAP1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1478",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MGCRACGAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RACGAP1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                },
                {
                    "id": "619789",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P3H8-1",
            "uniprot_ac": "Q6P3H8",
            "uniprot_id": "Q6P3H8_DANRE",
            "refseq_ac": "NP_955925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rac GTPase-activating protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "rac GTPase-activating protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "racgap1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ogr; ogre; wu:fb92c08; zgc:77839",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ogre",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ogr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "racgap1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb92c08",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77839",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GV02-1",
            "uniprot_ac": "B2GV02",
            "uniprot_id": "B2GV02_RAT",
            "refseq_ac": "NP_001101582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rac GTPase-activating protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "rac GTPase-activating protein 1-like",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "rac GTPase-activating protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Racgap1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Racgap1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051001",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051001"
}