{
    "disease_id": "DOID:0061026",
    "recommended_name": {
        "id": "DOID:0061026",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061026",
        "name": "hereditary pyropoikilocytosis",
        "description": "A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene."
    },
    "synonyms": [
        {
            "id": "DOID:0061026",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061026",
            "name": "HPP",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "pyropoikilocytosis, hereditary",
            "description": "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency."
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "Hypophosphatasia",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "pyropoikilocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "pyropoikilocytosis, hereditary",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "HPP",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "hereditary pyropoikilocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "name": "pyropoikilocytosis hereditary",
            "description": ""
        },
        {
            "id": "MIM:266140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266140",
            "name": "Hereditary pyropoikilocytosis",
            "description": "Hereditary pyropoikilocytosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061026"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061026",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061026",
            "categories": []
        },
        {
            "id": "MONDO:0009948",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009948",
            "categories": []
        },
        {
            "id": "MIM:266140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P08032-1",
            "uniprot_ac": "P08032",
            "uniprot_id": "SPTA1_MOUSE",
            "refseq_ac": "NP_035595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain, erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spectrin 1, erythroid",
                    "type": "synonym"
                },
                {
                    "name": "erythroid alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "hemolytic anemia",
                    "type": "synonym"
                },
                {
                    "name": "neuroscience mutagenesis facility, 4",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "spherocytosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spta1",
                    "type": "recommended"
                },
                {
                    "name": "Spna-1",
                    "type": "synonym"
                },
                {
                    "name": "Spna1",
                    "type": "synonym"
                },
                {
                    "name": "Spta1",
                    "type": "synonym"
                },
                {
                    "name": "Spta",
                    "type": "synonym"
                },
                {
                    "name": "ha",
                    "type": "synonym"
                },
                {
                    "name": "ihj",
                    "type": "synonym"
                },
                {
                    "name": "nmf4",
                    "type": "synonym"
                },
                {
                    "name": "sph",
                    "type": "synonym"
                }
            ],
            "record_id": "P08032-1",
            "evidence": [
                {
                    "id": "0061026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02549-1",
            "uniprot_ac": "P02549",
            "uniprot_id": "SPTA1_HUMAN",
            "refseq_ac": "NP_003117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain, erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-I spectrin",
                    "type": "synonym"
                },
                {
                    "name": "elliptocytosis 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocytic 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTA1",
                    "type": "recommended"
                },
                {
                    "name": "EL2",
                    "type": "synonym"
                },
                {
                    "name": "HPP",
                    "type": "synonym"
                },
                {
                    "name": "HS3",
                    "type": "synonym"
                },
                {
                    "name": "SPH3",
                    "type": "synonym"
                },
                {
                    "name": "SPTA1",
                    "type": "synonym"
                },
                {
                    "name": "SPTA",
                    "type": "synonym"
                }
            ],
            "record_id": "P02549-1",
            "evidence": [
                {
                    "id": "266140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/266140"
                },
                {
                    "id": "0061026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A678-1",
            "uniprot_ac": "D4A678",
            "uniprot_id": "D4A678_RAT",
            "refseq_ac": "NP_001011908",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain, erythrocytic 1",
                    "type": "recommended"
                },
                {
                    "name": "Erythroid alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "erythroid spectrin alpha",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "spectrin alpha chain, erythrocytic 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, alpha, erythrocytic 1 (elliptocytosis 2)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spta1",
                    "type": "recommended"
                },
                {
                    "name": "Spna1",
                    "type": "synonym"
                },
                {
                    "name": "Spta1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A678-1",
            "evidence": [
                {
                    "id": "0061026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061026"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13395-1",
            "uniprot_ac": "P13395",
            "uniprot_id": "SPTCA_DROME",
            "refseq_ac": "NP_476739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "CG1977-PA",
                    "type": "synonym"
                },
                {
                    "name": "aSpc 3A9",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SPECTRIN",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spec-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spectrin II",
                    "type": "synonym"
                },
                {
                    "name": "alphaSpectrin",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-2E2",
                    "type": "synonym"
                },
                {
                    "name": "klotzchen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpha-Spec",
                    "type": "recommended"
                },
                {
                    "name": "3A9",
                    "type": "synonym"
                },
                {
                    "name": "AlphaSpec",
                    "type": "synonym"
                },
                {
                    "name": "CG1977",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1977",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1977",
                    "type": "synonym"
                },
                {
                    "name": "FBtr0072789",
                    "type": "synonym"
                },
                {
                    "name": "FCP-B",
                    "type": "synonym"
                },
                {
                    "name": "SPEC-A",
                    "type": "synonym"
                },
                {
                    "name": "SPTCA",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spec",
                    "type": "synonym"
                },
                {
                    "name": "Sp",
                    "type": "synonym"
                },
                {
                    "name": "alfa-Spec",
                    "type": "synonym"
                },
                {
                    "name": "alpha pectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SPEC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spc",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spect",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spec",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Spe",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Sp",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-spec",
                    "type": "synonym"
                },
                {
                    "name": "alphaSpectrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaSpec",
                    "type": "synonym"
                },
                {
                    "name": "alphaSp",
                    "type": "synonym"
                },
                {
                    "name": "alpha",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe2E2",
                    "type": "synonym"
                },
                {
                    "name": "dre3",
                    "type": "synonym"
                },
                {
                    "name": "klo",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04276",
                    "type": "synonym"
                },
                {
                    "name": "l(3)62Bd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)alpha-Spec",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dre3",
                    "type": "synonym"
                },
                {
                    "name": "spectrin",
                    "type": "synonym"
                }
            ],
            "record_id": "P13395-1",
            "evidence": [
                {
                    "id": "0061026",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061026"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061026"
}