{
    "disease_id": "DOID:0110174",
    "recommended_name": {
        "id": "DOID:0110174",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110174",
        "name": "Charcot-Marie-Tooth disease axonal type 2L",
        "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110174",
            "name": "CMT2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110174",
            "name": "Charcot-Marie-Tooth neuropathy axonal type 2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110174",
            "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "DOID:0110174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110174",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease axonal type 2L",
            "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "CMT2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "HSPB8 Charcot-Marie-Tooth disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "autosomal dominant Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012096",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2L",
            "description": ""
        },
        {
            "id": "MIM:608673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608673",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2L",
            "description": "Charcot-Marie-Tooth disease, axonal, type 2L"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110174"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110174",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110174",
            "categories": []
        },
        {
            "id": "MONDO:0012096",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012096",
            "categories": []
        },
        {
            "id": "MIM:608673",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q8E3-1",
            "uniprot_ac": "A0A8M9Q8E3",
            "uniprot_id": "A0A8M9Q8E3_DANRE",
            "refseq_ac": "XP_021331756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-crystallin B chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha(B)-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha B, b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cryabb",
                    "type": "recommended"
                },
                {
                    "name": "cryab2",
                    "type": "synonym"
                },
                {
                    "name": "cryabb",
                    "type": "synonym"
                },
                {
                    "name": "fe37f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe37f08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91937",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q8E3-1",
            "evidence": [
                {
                    "id": "0110174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK92-1",
            "uniprot_ac": "Q9JK92",
            "uniprot_id": "HSPB8_MOUSE",
            "refseq_ac": "NP_109629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-8",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Small stress protein-like protein HSP22",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha C",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 20-like protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-8",
                    "type": "synonym"
                },
                {
                    "name": "small stress protein-like protein HSP22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb8",
                    "type": "recommended"
                },
                {
                    "name": "Cryac",
                    "type": "synonym"
                },
                {
                    "name": "D5Ucla4",
                    "type": "synonym"
                },
                {
                    "name": "E2IG1",
                    "type": "synonym"
                },
                {
                    "name": "H11K",
                    "type": "synonym"
                },
                {
                    "name": "H11",
                    "type": "synonym"
                },
                {
                    "name": "HSP20-like",
                    "type": "synonym"
                },
                {
                    "name": "HSP22",
                    "type": "synonym"
                },
                {
                    "name": "Hsp22",
                    "type": "synonym"
                },
                {
                    "name": "Hspb8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK92-1",
            "evidence": [
                {
                    "id": "0110174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24622-1",
            "uniprot_ac": "P24622",
            "uniprot_id": "CRYAA_MOUSE",
            "refseq_ac": "NP_038529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-crystallin A chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha-crystallin A chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin A chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "lens opacity 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryaa",
                    "type": "recommended"
                },
                {
                    "name": "Acry-1",
                    "type": "synonym"
                },
                {
                    "name": "Crya-1",
                    "type": "synonym"
                },
                {
                    "name": "Crya1",
                    "type": "synonym"
                },
                {
                    "name": "Cryaa",
                    "type": "synonym"
                },
                {
                    "name": "DAcry-1",
                    "type": "synonym"
                },
                {
                    "name": "lop18",
                    "type": "synonym"
                }
            ],
            "record_id": "P24622-1",
            "evidence": [
                {
                    "id": "0110174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PR8-1",
            "uniprot_ac": "Q99PR8",
            "uniprot_id": "HSPB2_MOUSE",
            "refseq_ac": "NP_001158180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-2",
                    "type": "recommended"
                },
                {
                    "name": "HspB2",
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                },
                {
                    "name": "heat shock 27kD protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb2",
                    "type": "recommended"
                },
                {
                    "name": "27kDa",
                    "type": "synonym"
                },
                {
                    "name": "2810021G24Rik",
                    "type": "synonym"
                },
                {
                    "name": "HSP27",
                    "type": "synonym"
                },
                {
                    "name": "Hspb2",
                    "type": "synonym"
                },
                {
                    "name": "MKBP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PR8-1",
            "evidence": [
                {
                    "id": "0110174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23927-1",
            "uniprot_ac": "P23927",
            "uniprot_id": "CRYAB_MOUSE",
            "refseq_ac": "NP_001276711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-crystallin B chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha(B)-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "P23",
                    "type": "synonym"
                },
                {
                    "name": "alpha(B)-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin B chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein CryAB",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein HspB5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cryab",
                    "type": "recommended"
                },
                {
                    "name": "Crya-2",
                    "type": "synonym"
                },
                {
                    "name": "Crya2",
                    "type": "synonym"
                },
                {
                    "name": "Cryab",
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                },
                {
                    "name": "HspB5",
                    "type": "synonym"
                },
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                }
            ],
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                    "id": "0110174",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9UJY1-1",
            "uniprot_ac": "Q9UJY1",
            "uniprot_id": "HSPB8_HUMAN",
            "refseq_ac": "NP_055180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Heat shock protein beta-8",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "E2-induced gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family B member 8",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase H11",
                    "type": "synonym"
                },
                {
                    "name": "Small stress protein-like protein HSP22",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin C chain",
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                },
                {
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                },
                {
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                {
                    "name": "protein kinase H11",
                    "type": "synonym"
                },
                {
                    "name": "small stress protein-like protein HSP22",
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                }
            ],
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                    "name": "HSPB8",
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                {
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                },
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                    "type": "synonym"
                },
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                    "name": "HMN2A",
                    "type": "synonym"
                },
                {
                    "name": "HMN2",
                    "type": "synonym"
                },
                {
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                },
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                },
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                    "name": "HSPB8",
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                },
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                },
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                }
            ],
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                    "id": "0110174",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
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            ],
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                },
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                    "name": "Small stress protein-like protein HSP22",
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                },
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                },
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                    "name": "crystallin, alpha C",
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                {
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                },
                {
                    "name": "heat shock protein 8",
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                {
                    "name": "heat shock protein B8",
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                {
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                },
                {
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            ],
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                    "name": "Hspb8",
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                {
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                },
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                {
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            ],
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                    "id": "0110174",
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                }
            ],
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                {
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                },
                {
                    "name": "alpha-crystallin B chain",
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                }
            ],
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                    "name": "Cryab",
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                },
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                    "name": "Cryab",
                    "type": "synonym"
                }
            ],
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                    "id": "0110174",
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                }
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            "uniprot_canonical_ac": "O35878-1",
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            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Heat shock protein beta-2",
                    "type": "recommended"
                },
                {
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                },
                {
                    "name": "heat shock 27kD protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein B2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8h11orf52",
                    "type": "recommended"
                },
                {
                    "name": "Hspb2",
                    "type": "recommended"
                },
                {
                    "name": "C8h11orf52",
                    "type": "synonym"
                },
                {
                    "name": "Hspb2",
                    "type": "synonym"
                },
                {
                    "name": "LOC689959",
                    "type": "synonym"
                }
            ],
            "record_id": "O35878-1",
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                {
                    "id": "0110174",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24623-1",
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                {
                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Alpha-crystallin A chain",
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                },
                {
                    "name": "Crystallin, alpha polypeptide A",
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                },
                {
                    "name": "alpha-crystallin A chain isoform 2",
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                },
                {
                    "name": "alpha-crystallin A chain",
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                }
            ],
            "gene_names": [
                {
                    "name": "Cryaa",
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                },
                {
                    "name": "Acry-1",
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                },
                {
                    "name": "Crya1",
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                },
                {
                    "name": "Cryaa",
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                }
            ],
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                {
                    "id": "0110174",
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            ]
        },
        {
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                {
                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Carboxypeptidase A1",
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                },
                {
                    "name": "3.4.17.1",
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                },
                {
                    "name": "carboxypeptidase A1 (pancreatic)",
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                },
                {
                    "name": "carboxypeptidase A1 preproprotein",
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                }
            ],
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                    "name": "Cpa1",
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                {
                    "name": "Cpa1",
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                },
                {
                    "name": "Cpa",
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                }
            ],
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                    "id": "0110174",
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            "uniprot_canonical_ac": "P82147-1",
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                {
                    "name": "Drosophila melanogaster",
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            ],
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                {
                    "name": "Protein lethal(2)essential for life",
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                    "name": "CG4533-PC",
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                {
                    "name": "Protein Efl21",
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                {
                    "name": "l(2)efl-PC",
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                {
                    "name": "lethal (2) essential for life, isoform C",
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                {
                    "name": "lethal (2) essential for life",
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                {
                    "name": "lethal(2)essential for life",
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            ],
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                {
                    "name": "l(2)efl",
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                    "name": "CG4533",
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                },
                {
                    "name": "CryAB",
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                {
                    "name": "Cryab",
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                {
                    "name": "Dmel19.8",
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                {
                    "name": "Dmel\\CG4533",
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                {
                    "name": "Dmel_CG4533",
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                {
                    "name": "L(2)EFL",
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                {
                    "name": "L(2)efl",
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                {
                    "name": "dCRYAB",
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                {
                    "name": "dCryAB",
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                {
                    "name": "el(2)13-1",
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                },
                {
                    "name": "l(2)13-1",
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                {
                    "name": "l(2)59Fa",
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                {
                    "name": "l(2)Efl",
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                {
                    "name": "l(2)efl",
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                }
            ],
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                    "id": "0110174",
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                }
            ]
        },
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Heat shock protein 67B3",
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                    "name": "CG4190-PA",
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                {
                    "name": "Heat shock 18 kDa protein",
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                },
                {
                    "name": "Hsp67Bc-PA",
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                {
                    "name": "gene 3",
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                {
                    "name": "heat shock gene 67Bc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsp67Bc",
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                {
                    "name": "CG4190",
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                },
                {
                    "name": "Dm-HSP67Bc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel18.0",
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                },
                {
                    "name": "Dmel\\CG4190",
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                },
                {
                    "name": "HSP67BC",
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                },
                {
                    "name": "HSP67Bc",
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                },
                {
                    "name": "HSP67",
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                {
                    "name": "HSPB8",
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                },
                {
                    "name": "Hsp-G3",
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                },
                {
                    "name": "Hsp67BC",
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                },
                {
                    "name": "Hsp67Bc",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
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                {
                    "name": "Hspg3",
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                },
                {
                    "name": "gene 3",
                    "type": "synonym"
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                {
                    "name": "gene-3",
                    "type": "synonym"
                },
                {
                    "name": "gene3",
                    "type": "synonym"
                },
                {
                    "name": "gene5",
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                {
                    "name": "hsp67Bc",
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                {
                    "name": "hsp67B",
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                },
                {
                    "name": "hsp67bc",
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                {
                    "name": "small hsp locus 67B",
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                }
            ],
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                    "id": "0110174",
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                }
            ]
        },
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Alpha-crystallin B chain",
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                    "name": "Alpha(B)-crystallin",
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                {
                    "name": "Heat shock protein beta-5",
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                },
                {
                    "name": "Heat shock protein family B member 5",
                    "type": "synonym"
                },
                {
                    "name": "HspB5",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-27",
                    "type": "synonym"
                },
                {
                    "name": "Rosenthal fiber component",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin B chain isoform 1",
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                },
                {
                    "name": "alpha-crystallin B chain",
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                {
                    "name": "epididymis secretory protein Li 101",
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                },
                {
                    "name": "heat shock protein beta-5",
                    "type": "synonym"
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                {
                    "name": "heat shock protein family B member 5",
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                {
                    "name": "heat-shock 20 kD like-protein",
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                {
                    "name": "renal carcinoma antigen NY-REN-27",
                    "type": "synonym"
                },
                {
                    "name": "rosenthal fiber component",
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                }
            ],
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                    "name": "CRYAB",
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                {
                    "name": "CMD1II",
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                },
                {
                    "name": "CRYA2",
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                {
                    "name": "CRYAB",
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                {
                    "name": "CTPP2",
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                },
                {
                    "name": "CTRCT16",
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                {
                    "name": "HEL-S-101",
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                {
                    "name": "HSPB5",
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                {
                    "name": "MFM2A",
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                },
                {
                    "name": "MFM2B",
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                },
                {
                    "name": "MFM2",
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                }
            ],
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                    "id": "0110174",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        },
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                }
            ],
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                    "name": "Alpha-crystallin A chain",
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                {
                    "name": "Heat shock protein beta-4",
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                },
                {
                    "name": "Heat shock protein family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "HspB4",
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                },
                {
                    "name": "alpha-crystallin A chain isoform 1",
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                },
                {
                    "name": "alpha-crystallin A chain",
                    "type": "synonym"
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                {
                    "name": "crystallin, alpha-1",
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                },
                {
                    "name": "heat shock protein beta-4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "human alphaA-crystallin (CRYA1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYAA",
                    "type": "recommended"
                },
                {
                    "name": "CRYA1",
                    "type": "synonym"
                },
                {
                    "name": "CRYAA",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT9",
                    "type": "synonym"
                },
                {
                    "name": "HSPB4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110174"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110174"
}