{
    "disease_id": "DOID:0110566",
    "recommended_name": {
        "id": "DOID:0110566",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110566",
        "name": "autosomal dominant nonsyndromic deafness 40",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110566",
            "name": "DFNA40",
            "description": ""
        },
        {
            "id": "DOID:0110566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110566",
            "name": "autosomal dominant deafness 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant nonsyndromic hearing loss 40",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene."
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant nonsyndromic hearing loss 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "CRYM autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "DFNA40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant deafness 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant nonsyndromic deafness 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in CRYM",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "autosomal dominant nonsyndromic deafness type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "deafness, autosomal dominant 40",
            "description": ""
        },
        {
            "id": "MONDO:0014603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "name": "deafness, autosomal dominant type 40",
            "description": ""
        },
        {
            "id": "MIM:616357",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616357",
            "name": "Deafness, autosomal dominant, 40",
            "description": "Deafness, autosomal dominant, 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110566"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110566",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110566",
            "categories": []
        },
        {
            "id": "MONDO:0014603",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014603",
            "categories": []
        },
        {
            "id": "MIM:616357",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616357",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O54983-1",
            "uniprot_ac": "O54983",
            "uniprot_id": "CRYM_MOUSE",
            "refseq_ac": "NP_057878",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketimine reductase mu-crystallin",
                    "type": "recommended"
                },
                {
                    "name": "1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.25",
                    "type": "synonym"
                },
                {
                    "name": "NADP-regulated thyroid-hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "P2C/Pyr2C reductase",
                    "type": "synonym"
                },
                {
                    "name": "ketimine reductase mu-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "mu-crystallin homolog",
                    "type": "synonym"
                },
                {
                    "name": "thiomorpholine-carboxylate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crym",
                    "type": "recommended"
                },
                {
                    "name": "Crym",
                    "type": "synonym"
                }
            ],
            "record_id": "O54983-1",
            "evidence": [
                {
                    "id": "0110566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14894-1",
            "uniprot_ac": "Q14894",
            "uniprot_id": "CRYM_HUMAN",
            "refseq_ac": "NP_001879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketimine reductase mu-crystallin",
                    "type": "recommended"
                },
                {
                    "name": "1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.25",
                    "type": "synonym"
                },
                {
                    "name": "NADP-regulated thyroid-hormone binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NADP-regulated thyroid-hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "P2C/Pyr2C reductase",
                    "type": "synonym"
                },
                {
                    "name": "ketimine reductase mu-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "mu-crystallin homolog",
                    "type": "synonym"
                },
                {
                    "name": "thiomorpholine-carboxylate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYM",
                    "type": "recommended"
                },
                {
                    "name": "CRYM",
                    "type": "synonym"
                },
                {
                    "name": "DFNA40",
                    "type": "synonym"
                },
                {
                    "name": "THBP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14894-1",
            "evidence": [
                {
                    "id": "616357",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616357"
                },
                {
                    "id": "0110566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53110-1",
            "uniprot_ac": "P53110",
            "uniprot_id": "IMR_YEAST",
            "refseq_ac": "NP_011356",
            "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": "Imine reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "G1840",
                    "type": "synonym"
                }
            ],
            "record_id": "P53110-1",
            "evidence": [
                {
                    "id": "0110566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYU4-1",
            "uniprot_ac": "Q9QYU4",
            "uniprot_id": "CRYM_RAT",
            "refseq_ac": "NP_446407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketimine reductase mu-crystallin",
                    "type": "recommended"
                },
                {
                    "name": "1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "1.5.1.25",
                    "type": "synonym"
                },
                {
                    "name": "CDK108",
                    "type": "synonym"
                },
                {
                    "name": "NADP-regulated thyroid-hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "P2C/Pyr2C reductase",
                    "type": "synonym"
                },
                {
                    "name": "ketimine reductase mu-crystallin",
                    "type": "synonym"
                },
                {
                    "name": "mu-crystallin homolog",
                    "type": "synonym"
                },
                {
                    "name": "thiomorpholine-carboxylate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crym",
                    "type": "recommended"
                },
                {
                    "name": "CDK108",
                    "type": "synonym"
                },
                {
                    "name": "Crym",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYU4-1",
            "evidence": [
                {
                    "id": "0110566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110566"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110566"
}