{
    "disease_id": "DOID:0110919",
    "recommended_name": {
        "id": "DOID:0110919",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110919",
        "name": "hereditary spherocytosis type 4",
        "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0110919",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110919",
            "name": "HS4",
            "description": ""
        },
        {
            "id": "DOID:0110919",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110919",
            "name": "SPH4",
            "description": ""
        },
        {
            "id": "DOID:0110919",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110919",
            "name": "hereditary spherocytosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "hereditary spherocytosis type 4",
            "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene."
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "HS4",
            "description": ""
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "SLC4A1 hereditary spherocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "SPH4",
            "description": ""
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "hereditary spherocytosis caused by mutation in SLC4A1",
            "description": ""
        },
        {
            "id": "MONDO:0012981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "name": "spherocytosis, type 4",
            "description": ""
        },
        {
            "id": "MIM:612653",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612653",
            "name": "Spherocytosis 4",
            "description": "Spherocytosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110919"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110919",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110919",
            "categories": []
        },
        {
            "id": "MONDO:0012981",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012981",
            "categories": []
        },
        {
            "id": "MIM:612653",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612653",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P04919-1",
            "uniprot_ac": "P04919",
            "uniprot_id": "B3AT_MOUSE",
            "refseq_ac": "NP_035533",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 3 anion transport protein",
                    "type": "recommended"
                },
                {
                    "name": "AE 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "MEB3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 1",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "band 3 anion transport protein",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane protein band 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a1",
                    "type": "recommended"
                },
                {
                    "name": "Ae1",
                    "type": "synonym"
                },
                {
                    "name": "CD233",
                    "type": "synonym"
                },
                {
                    "name": "Empb3",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a1",
                    "type": "synonym"
                },
                {
                    "name": "l11Jus51",
                    "type": "synonym"
                }
            ],
            "record_id": "P04919-1",
            "evidence": [
                {
                    "id": "0110919",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110919"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02730-1",
            "uniprot_ac": "P02730",
            "uniprot_id": "B3AT_HUMAN",
            "refseq_ac": "NP_000333",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 3 anion transport protein",
                    "type": "recommended"
                },
                {
                    "name": "AE 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Froese blood group",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Swann blood group",
                    "type": "synonym"
                },
                {
                    "name": "Waldner blood group",
                    "type": "synonym"
                },
                {
                    "name": "Wright blood group",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger-1",
                    "type": "synonym"
                },
                {
                    "name": "band 3 anion exchanger",
                    "type": "synonym"
                },
                {
                    "name": "band 3 anion transport protein",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane protein band 3",
                    "type": "synonym"
                },
                {
                    "name": "erythroid anion exchange protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 1 (Diego blood group)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4, anion exchanger, number 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC4A1",
                    "type": "recommended"
                },
                {
                    "name": "AE1",
                    "type": "synonym"
                },
                {
                    "name": "BND3",
                    "type": "synonym"
                },
                {
                    "name": "CD233",
                    "type": "synonym"
                },
                {
                    "name": "CHC",
                    "type": "synonym"
                },
                {
                    "name": "DI",
                    "type": "synonym"
                },
                {
                    "name": "EMPB3",
                    "type": "synonym"
                },
                {
                    "name": "EPB3",
                    "type": "synonym"
                },
                {
                    "name": "FR",
                    "type": "synonym"
                },
                {
                    "name": "RTA1A",
                    "type": "synonym"
                },
                {
                    "name": "SAO",
                    "type": "synonym"
                },
                {
                    "name": "SLC4A1",
                    "type": "synonym"
                },
                {
                    "name": "SPH4",
                    "type": "synonym"
                },
                {
                    "name": "SW",
                    "type": "synonym"
                },
                {
                    "name": "WD1",
                    "type": "synonym"
                },
                {
                    "name": "WD",
                    "type": "synonym"
                },
                {
                    "name": "WR",
                    "type": "synonym"
                }
            ],
            "record_id": "P02730-1",
            "evidence": [
                {
                    "id": "612653",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612653"
                },
                {
                    "id": "0110919",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110919"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53838-1",
            "uniprot_ac": "P53838",
            "uniprot_id": "BOR1_YEAST",
            "refseq_ac": "NP_014124",
            "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": "Boron transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Bor1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOR1",
                    "type": "recommended"
                },
                {
                    "name": "BOR1",
                    "type": "synonym"
                },
                {
                    "name": "N0626",
                    "type": "synonym"
                }
            ],
            "record_id": "P53838-1",
            "evidence": [
                {
                    "id": "0110919",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110919"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23562-1",
            "uniprot_ac": "P23562",
            "uniprot_id": "B3AT_RAT",
            "refseq_ac": "NP_036783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 3 anion transport protein",
                    "type": "recommended"
                },
                {
                    "name": "AE 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4, member 1, anion exchange protein 1 (kidney band 3)",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 1",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 1",
                    "type": "synonym"
                },
                {
                    "name": "band 3 anion transport protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a1",
                    "type": "recommended"
                },
                {
                    "name": "Ae1",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23562-1",
            "evidence": [
                {
                    "id": "0110919",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110919"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT48-1",
            "uniprot_ac": "Q9VT48",
            "uniprot_id": "Q9VT48_DROME",
            "refseq_ac": "NP_648357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein",
                    "type": "recommended"
                },
                {
                    "name": "Ae2-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG8177-PA",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 2",
                    "type": "synonym"
                },
                {
                    "name": "drosophila anion exchanger",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ae2",
                    "type": "recommended"
                },
                {
                    "name": "Ae2",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE59468",
                    "type": "synonym"
                },
                {
                    "name": "CG8177",
                    "type": "synonym"
                },
                {
                    "name": "DAE",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8177",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8177",
                    "type": "synonym"
                },
                {
                    "name": "ae2",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey259",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT48-1",
            "evidence": [
                {
                    "id": "0110919",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110919"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110919"
}