{
    "disease_id": "DOID:0111562",
    "recommended_name": {
        "id": "DOID:0111562",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111562",
        "name": "overhydrated hereditary stomatocytosis",
        "description": "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111562",
            "name": "OHS",
            "description": ""
        },
        {
            "id": "DOID:0111562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111562",
            "name": "potassium sodium disorder of erythrocyte",
            "description": ""
        },
        {
            "id": "DOID:0111562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111562",
            "name": "stomatocytosisIOHST",
            "description": ""
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "overhydrated hereditary stomatocytosis",
            "description": "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia."
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "overhydrated hereditary stomatocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "OHS",
            "description": ""
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "OHST",
            "description": ""
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "Potassium sodium disorder of erythrocyte",
            "description": ""
        },
        {
            "id": "MONDO:0008493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "name": "stomatocytosis I",
            "description": ""
        },
        {
            "id": "MIM:185000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/185000",
            "name": "Overhydrated hereditary stomatocytosis",
            "description": "Overhydrated hereditary stomatocytosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111562"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111562",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111562",
            "categories": []
        },
        {
            "id": "MONDO:0008493",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008493",
            "categories": []
        },
        {
            "id": "MIM:185000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/185000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QUT0-1",
            "uniprot_ac": "Q9QUT0",
            "uniprot_id": "RHAG_MOUSE",
            "refseq_ac": "NP_035399",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ammonium transporter Rh type A",
                    "type": "recommended"
                },
                {
                    "name": "50 kD glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "Rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "ammonium transporter Rh type A",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhag",
                    "type": "recommended"
                },
                {
                    "name": "CD241",
                    "type": "synonym"
                },
                {
                    "name": "Rh50A",
                    "type": "synonym"
                },
                {
                    "name": "Rh50",
                    "type": "synonym"
                },
                {
                    "name": "Rhag",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUT0-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02094-1",
            "uniprot_ac": "Q02094",
            "uniprot_id": "RHAG_HUMAN",
            "refseq_ac": "NP_000315",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ammonium transporter Rh type A",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte plasma membrane 50 kDa glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh 50 glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh50A",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus associated polypeptide, 50-KD",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group-associated ammonia channel",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "ammonium transporter Rh type A",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte plasma membrane 50 kDa glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "mutant Rh associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rh type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rhesus blood group-associated ammonia channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHAG",
                    "type": "recommended"
                },
                {
                    "name": "CD241",
                    "type": "synonym"
                },
                {
                    "name": "OHST",
                    "type": "synonym"
                },
                {
                    "name": "OHS",
                    "type": "synonym"
                },
                {
                    "name": "RH2",
                    "type": "synonym"
                },
                {
                    "name": "RH50A",
                    "type": "synonym"
                },
                {
                    "name": "RH50",
                    "type": "synonym"
                },
                {
                    "name": "RHAG",
                    "type": "synonym"
                },
                {
                    "name": "RHNR",
                    "type": "synonym"
                },
                {
                    "name": "Rh50GP",
                    "type": "synonym"
                },
                {
                    "name": "Rh50",
                    "type": "synonym"
                },
                {
                    "name": "SLC42A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02094-1",
            "evidence": [
                {
                    "id": "185000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/185000"
                },
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40260-1",
            "uniprot_ac": "P40260",
            "uniprot_id": "MEP1_YEAST",
            "refseq_ac": "NP_011636",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ammonium transporter MEP1",
                    "type": "recommended"
                },
                {
                    "name": "ammonium permease MEP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEP1",
                    "type": "recommended"
                },
                {
                    "name": "AMT1",
                    "type": "synonym"
                },
                {
                    "name": "G6331",
                    "type": "synonym"
                },
                {
                    "name": "MEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40260-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53390-1",
            "uniprot_ac": "P53390",
            "uniprot_id": "MEP3_YEAST",
            "refseq_ac": "NP_015464",
            "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": "Ammonium transporter MEP3",
                    "type": "recommended"
                },
                {
                    "name": "ammonium permease MEP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEP3",
                    "type": "recommended"
                },
                {
                    "name": "AMT3",
                    "type": "synonym"
                },
                {
                    "name": "MEP3",
                    "type": "synonym"
                },
                {
                    "name": "P9659.14",
                    "type": "synonym"
                }
            ],
            "record_id": "P53390-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41948-1",
            "uniprot_ac": "P41948",
            "uniprot_id": "MEP2_YEAST",
            "refseq_ac": "NP_014257",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ammonium transporter MEP2",
                    "type": "recommended"
                },
                {
                    "name": "ammonium permease MEP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEP2",
                    "type": "recommended"
                },
                {
                    "name": "AMT2",
                    "type": "synonym"
                },
                {
                    "name": "MEP2",
                    "type": "synonym"
                },
                {
                    "name": "N1207",
                    "type": "synonym"
                },
                {
                    "name": "N1820",
                    "type": "synonym"
                }
            ],
            "record_id": "P41948-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNK7-1",
            "uniprot_ac": "Q7TNK7",
            "uniprot_id": "RHAG_RAT",
            "refseq_ac": "NP_075411",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ammonium transporter Rh type A",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "Rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rh type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group-associated A glycoprotein-like",
                    "type": "synonym"
                },
                {
                    "name": "Rhesus blood group-associated A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "ammonium transporter Rh type A",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane glycoprotein Rh50",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 50kD",
                    "type": "synonym"
                },
                {
                    "name": "rh family type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rh type A glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "rhesus blood group family type A glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhag",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361616",
                    "type": "synonym"
                },
                {
                    "name": "Rh50",
                    "type": "synonym"
                },
                {
                    "name": "Rhag",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNK7-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6M3Q9I2-1",
            "uniprot_ac": "A0A6M3Q9I2",
            "uniprot_id": "A0A6M3Q9I2_DROME",
            "refseq_ac": "NP_001369039",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7499-PD",
                    "type": "synonym"
                },
                {
                    "name": "Rh50, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Rh50-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rh50",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH03016",
                    "type": "synonym"
                },
                {
                    "name": "CG7499",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7499",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7499",
                    "type": "synonym"
                },
                {
                    "name": "Rh-like",
                    "type": "synonym"
                },
                {
                    "name": "Rh50",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6M3Q9I2-1",
            "evidence": [
                {
                    "id": "0111562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111562"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111562"
}