{
    "disease_id": "DOID:0110920",
    "recommended_name": {
        "id": "DOID:0110920",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110920",
        "name": "hereditary spherocytosis type 5",
        "description": "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110920",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110920",
            "name": "HS5",
            "description": ""
        },
        {
            "id": "DOID:0110920",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110920",
            "name": "SPH5",
            "description": ""
        },
        {
            "id": "DOID:0110920",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110920",
            "name": "hereditary spherocytosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "hereditary spherocytosis type 5",
            "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene."
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "EPB42 hereditary spherocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "HS5",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "SPH5",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "hereditary spherocytosis caused by mutation in EPB42",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "hereditary spherocytosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "name": "spherocytosis, type 5",
            "description": ""
        },
        {
            "id": "MIM:612690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612690",
            "name": "Spherocytosis 5",
            "description": "Spherocytosis 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110920"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110920",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110920",
            "categories": []
        },
        {
            "id": "MONDO:0012985",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012985",
            "categories": []
        },
        {
            "id": "MIM:612690",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612690",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49222-1",
            "uniprot_ac": "P49222",
            "uniprot_id": "EPB42_MOUSE",
            "refseq_ac": "NP_038541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein 4.2",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.2",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte protein 4.2",
                    "type": "synonym"
                },
                {
                    "name": "P4.2",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein 4.2",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein band 4.2",
                    "type": "synonym"
                },
                {
                    "name": "protein 4.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epb42",
                    "type": "recommended"
                },
                {
                    "name": "Epb4.2",
                    "type": "synonym"
                },
                {
                    "name": "Epb42",
                    "type": "synonym"
                }
            ],
            "record_id": "P49222-1",
            "evidence": [
                {
                    "id": "0110920",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110920"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16452-1",
            "uniprot_ac": "P16452",
            "uniprot_id": "EPB42_HUMAN",
            "refseq_ac": "NP_000110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein 4.2",
                    "type": "recommended"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.2",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte protein 4.2",
                    "type": "synonym"
                },
                {
                    "name": "P4.2",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein 4.2",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte surface protein band 4.2",
                    "type": "synonym"
                },
                {
                    "name": "protein 4.2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPB42",
                    "type": "recommended"
                },
                {
                    "name": "E42P",
                    "type": "synonym"
                },
                {
                    "name": "EPB42",
                    "type": "synonym"
                },
                {
                    "name": "PA",
                    "type": "synonym"
                },
                {
                    "name": "SPH5",
                    "type": "synonym"
                }
            ],
            "record_id": "P16452-1",
            "evidence": [
                {
                    "id": "612690",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612690"
                },
                {
                    "id": "0110920",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110920"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62716-1",
            "uniprot_ac": "P62716",
            "uniprot_id": "PP2AB_RAT",
            "refseq_ac": "NP_058736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-beta",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2, catalytic subunit, beta isozyme",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A catalytic alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase-2A-beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A catalytic subunit beta isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp2cb",
                    "type": "recommended"
                },
                {
                    "name": "Pp2a2",
                    "type": "synonym"
                },
                {
                    "name": "Ppp2cb",
                    "type": "synonym"
                }
            ],
            "record_id": "P62716-1",
            "evidence": [
                {
                    "id": "0110920",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110920"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110920"
}