{
    "disease_id": "DOID:0080472",
    "recommended_name": {
        "id": "DOID:0080472",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080472",
        "name": "developmental and epileptic encephalopathy 91",
        "description": "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080472",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080472",
            "name": "infantile or early childhood epileptic encephalopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0020630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "name": "developmental and epileptic encephalopathy 91",
            "description": ""
        },
        {
            "id": "MONDO:0020630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "name": "DEE91",
            "description": ""
        },
        {
            "id": "MONDO:0020630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "name": "developmental and epileptic encephalopathy 91",
            "description": ""
        },
        {
            "id": "MONDO:0020630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "name": "epileptic encephalopathy, infantile or early childhood, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "name": "IECEE1",
            "description": ""
        },
        {
            "id": "MIM:617711",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617711",
            "name": "Epileptic encephalopathy, infantile or early childhood, 1",
            "description": "Epileptic encephalopathy, infantile or early childhood, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080472"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080472",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080472",
            "categories": []
        },
        {
            "id": "MONDO:0020630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020630",
            "categories": []
        },
        {
            "id": "MIM:617711",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617711",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QD93-1",
            "uniprot_ac": "F1QD93",
            "uniprot_id": "F1QD93_DANRE",
            "refseq_ac": "NP_001185479",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppp3ca",
                    "type": "recommended"
                },
                {
                    "name": "fj46e08",
                    "type": "synonym"
                },
                {
                    "name": "ppp3ca",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-79c2.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj46e08",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QD93-1",
            "evidence": [
                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3BEY4-1",
            "uniprot_ac": "A0A8M3BEY4",
            "uniprot_id": "A0A8M3BEY4_DANRE",
            "refseq_ac": "XP_009305997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppp3cb",
                    "type": "recommended"
                },
                {
                    "name": "ppp3cb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq19c08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110141",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BEY4-1",
            "evidence": [
                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63328-1",
            "uniprot_ac": "P63328",
            "uniprot_id": "PP2BA_MOUSE",
            "refseq_ac": "NP_001280551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase 3 catalytic subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "CAM-PRP catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "CNA alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-dependent calcineurin A subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "PP2B alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "PP2BA alpha",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3 catalytic subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3 catalytic subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp3ca",
                    "type": "recommended"
                },
                {
                    "name": "2900074D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "CN",
                    "type": "synonym"
                },
                {
                    "name": "Calna",
                    "type": "synonym"
                },
                {
                    "name": "Caln",
                    "type": "synonym"
                },
                {
                    "name": "CnA",
                    "type": "synonym"
                },
                {
                    "name": "Ppp3ca",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08209-1",
            "uniprot_ac": "Q08209",
            "uniprot_id": "PP2BA_HUMAN",
            "refseq_ac": "NP_000935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase 3 catalytic subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "CAM-PRP catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "CNA alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-dependent calcineurin A subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3 catalytic subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3 catalytic subunit alpha isozyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPP3CA",
                    "type": "recommended"
                },
                {
                    "name": "ACCIID",
                    "type": "synonym"
                },
                {
                    "name": "CALNA1",
                    "type": "synonym"
                },
                {
                    "name": "CALNA",
                    "type": "synonym"
                },
                {
                    "name": "CALN",
                    "type": "synonym"
                },
                {
                    "name": "CNA1",
                    "type": "synonym"
                },
                {
                    "name": "CNA",
                    "type": "synonym"
                },
                {
                    "name": "DEE91",
                    "type": "synonym"
                },
                {
                    "name": "IECEE1",
                    "type": "synonym"
                },
                {
                    "name": "IECEE",
                    "type": "synonym"
                },
                {
                    "name": "PPP2B",
                    "type": "synonym"
                },
                {
                    "name": "PPP3CA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08209-1",
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                {
                    "id": "617711",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617711"
                },
                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23287-1",
            "uniprot_ac": "P23287",
            "uniprot_id": "PP2B1_YEAST",
            "refseq_ac": "NP_013537",
            "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": "Serine/threonine-protein phosphatase 2B catalytic subunit A1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin A1",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin catalytic subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNA1",
                    "type": "recommended"
                },
                {
                    "name": "CMP1",
                    "type": "synonym"
                },
                {
                    "name": "CNA1",
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                },
                {
                    "name": "L9753.6",
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            ],
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                {
                    "id": "0080472",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P14747-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit A2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin A2",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin catalytic subunit A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CMP2",
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                },
                {
                    "name": "CMP2",
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                },
                {
                    "name": "CNA2",
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                {
                    "name": "YM9958.05",
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                }
            ],
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                {
                    "id": "0080472",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63329-1",
            "uniprot_ac": "P63329",
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            "refseq_ac": "NP_058737",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Protein phosphatase 3 catalytic subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "CAM-PRP catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "CNA alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calcineurin subunit A alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-dependent calcineurin A subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin A alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3 catalytic subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 3, catalytic subunit, alpha isozyme",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase-2Ba",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Ppp3ca",
                    "type": "recommended"
                },
                {
                    "name": "Calna1",
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                },
                {
                    "name": "Calna",
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                },
                {
                    "name": "Ppp3ca",
                    "type": "synonym"
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            ],
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                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXF1-1",
            "uniprot_ac": "Q9VXF1",
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            "refseq_ac": "NP_001245717",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit 3",
                    "type": "recommended"
                },
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                    "name": "3.1.3.16",
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                },
                {
                    "name": "Calmodulin-dependent calcineurin A3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "CanA-14F-PC",
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                },
                {
                    "name": "calcineurin A at 14F, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin A at 14F",
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                },
                {
                    "name": "mRNA-like ncRNA in embryogenesis 12",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase D27",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase from PCR fragment D27",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CanA-14F",
                    "type": "recommended"
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                    "name": "CG9819",
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                },
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                    "name": "CaNA-14F",
                    "type": "synonym"
                },
                {
                    "name": "CaN",
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                },
                {
                    "name": "CanA-14F",
                    "type": "synonym"
                },
                {
                    "name": "CanA14F",
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                },
                {
                    "name": "CnnA14D(I)",
                    "type": "synonym"
                },
                {
                    "name": "CnnA14D",
                    "type": "synonym"
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                {
                    "name": "D27",
                    "type": "synonym"
                },
                {
                    "name": "DmCanA-14F",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9819",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9819",
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                {
                    "name": "MRE12",
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                {
                    "name": "PP2B",
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                },
                {
                    "name": "PpD27",
                    "type": "synonym"
                },
                {
                    "name": "canA-14F",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27889-1",
            "uniprot_ac": "Q27889",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2B catalytic subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "CG9842-PC",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-dependent calcineurin A2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Pp2B-14D-PC",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2B at 14D, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase D33",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase from PCR fragment D33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pp2B-14D",
                    "type": "recommended"
                },
                {
                    "name": "CG9842",
                    "type": "synonym"
                },
                {
                    "name": "CaNA",
                    "type": "synonym"
                },
                {
                    "name": "CaN",
                    "type": "synonym"
                },
                {
                    "name": "CanA14D",
                    "type": "synonym"
                },
                {
                    "name": "CanA",
                    "type": "synonym"
                },
                {
                    "name": "CnA",
                    "type": "synonym"
                },
                {
                    "name": "CnnA14D",
                    "type": "synonym"
                },
                {
                    "name": "D33",
                    "type": "synonym"
                },
                {
                    "name": "DmPp2B-14D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9842",
                    "type": "synonym"
                },
                {
                    "name": "PP2B 14D",
                    "type": "synonym"
                },
                {
                    "name": "PP2B-14D",
                    "type": "synonym"
                },
                {
                    "name": "PP2B",
                    "type": "synonym"
                },
                {
                    "name": "Pp12-14D",
                    "type": "synonym"
                },
                {
                    "name": "Pp2B-14D/CaN",
                    "type": "synonym"
                },
                {
                    "name": "Pp2B-14DF",
                    "type": "synonym"
                },
                {
                    "name": "Pp2B-14D",
                    "type": "synonym"
                },
                {
                    "name": "Pp2B",
                    "type": "synonym"
                },
                {
                    "name": "Pp2b-14D",
                    "type": "synonym"
                },
                {
                    "name": "PpD33",
                    "type": "synonym"
                },
                {
                    "name": "calneur",
                    "type": "synonym"
                },
                {
                    "name": "canA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27889-1",
            "evidence": [
                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08495-1",
            "uniprot_ac": "Q08495",
            "uniprot_id": "DEMA_HUMAN",
            "refseq_ac": "NP_001107607",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dematin",
                    "type": "recommended"
                },
                {
                    "name": "Dematin actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.9",
                    "type": "synonym"
                },
                {
                    "name": "dematin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte membrane protein band 4.9 (dematin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMTN",
                    "type": "recommended"
                },
                {
                    "name": "DMTN",
                    "type": "synonym"
                },
                {
                    "name": "DMT",
                    "type": "synonym"
                },
                {
                    "name": "EPB49",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08495-1",
            "evidence": [
                {
                    "id": "0080472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080472"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080472"
}