{
    "disease_id": "DOID:0111846",
    "recommended_name": {
        "id": "DOID:0111846",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111846",
        "name": "X-linked congenital hemolytic anemia",
        "description": "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0060455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060455",
            "name": "X-linked congenital hemolytic anemia",
            "description": ""
        },
        {
            "id": "MONDO:0060455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060455",
            "name": "hemolytic anemia, congenital, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MIM:301015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301015",
            "name": "Hemolytic anemia, congenital, X-linked",
            "description": "Hemolytic anemia, congenital, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111846"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111846",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111846",
            "categories": []
        },
        {
            "id": "MONDO:0060455",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060455",
            "categories": []
        },
        {
            "id": "MIM:301015",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301015",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PUH0-1",
            "uniprot_ac": "A0A8M9PUH0",
            "uniprot_id": "A0A8M9PUH0_DANRE",
            "refseq_ac": "XP_021328509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IG isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp11c",
                    "type": "recommended"
                },
                {
                    "name": "atp11c",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUH0-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZW0-1",
            "uniprot_ac": "Q9QZW0",
            "uniprot_id": "AT11C_MOUSE",
            "refseq_ac": "NP_001032952",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase 11C",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class VI type 11C",
                    "type": "synonym"
                },
                {
                    "name": "Atpase 11c, p type",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP11C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase 11C isoform a",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase 11C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp11c",
                    "type": "recommended"
                },
                {
                    "name": "A330005H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp11c",
                    "type": "synonym"
                },
                {
                    "name": "Ig",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZW0-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NB49-1",
            "uniprot_ac": "Q8NB49",
            "uniprot_id": "AT11C_HUMAN",
            "refseq_ac": "NP_001010986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase IG",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase IQ",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class VI type 11C",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class VI, type 11C",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase flippase complex alpha subunit ATP11C",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IG isoform b",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP11C",
                    "type": "recommended"
                },
                {
                    "name": "ATP11C",
                    "type": "synonym"
                },
                {
                    "name": "ATPIG",
                    "type": "synonym"
                },
                {
                    "name": "ATPIQ",
                    "type": "synonym"
                },
                {
                    "name": "HACXL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NB49-1",
            "evidence": [
                {
                    "id": "301015",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301015"
                },
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12674-1",
            "uniprot_ac": "Q12674",
            "uniprot_id": "ATC8_YEAST",
            "refseq_ac": "NP_013885",
            "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": "Probable phospholipid-transporting ATPase DNF3",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "APT",
                    "type": "synonym"
                },
                {
                    "name": "Aminophospholipid translocase",
                    "type": "synonym"
                },
                {
                    "name": "PLT",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid translocase",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid-translocating P4-type ATPase DNF3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNF3",
                    "type": "recommended"
                },
                {
                    "name": "DNF3",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.11C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12674-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AFP3-1",
            "uniprot_ac": "A0A8I6AFP3",
            "uniprot_id": "A0A8I6AFP3_RAT",
            "refseq_ac": "NP_001419934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase phospholipid transporting 11C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class VI, type 11C, pseudogene 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp11c",
                    "type": "recommended"
                },
                {
                    "name": "Atp11c-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Atp11c",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564481",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AFP3-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG7-1",
            "uniprot_ac": "Q9VXG7",
            "uniprot_id": "Q9VXG7_DROME",
            "refseq_ac": "NP_001259610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG9981-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DmCG9981",
                    "type": "recommended"
                },
                {
                    "name": "CG9981",
                    "type": "synonym"
                },
                {
                    "name": "DmCG9981",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9981",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9981",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG7-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG6-1",
            "uniprot_ac": "Q9VXG6",
            "uniprot_id": "Q9VXG6_DROME",
            "refseq_ac": "NP_573125",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4301-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4301",
                    "type": "recommended"
                },
                {
                    "name": "CG4301",
                    "type": "synonym"
                },
                {
                    "name": "DmCG4301",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4301",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4301",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG6-1",
            "evidence": [
                {
                    "id": "0111846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111846"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111846"
}