{
    "disease_id": "DOID:0111640",
    "recommended_name": {
        "id": "DOID:0111640",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111640",
        "name": "autosomal recessive nonsyndromic deafness 111",
        "description": "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111640",
            "name": "DFNB111",
            "description": ""
        },
        {
            "id": "DOID:0111640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111640",
            "name": "autosomal recessive deafness 111",
            "description": ""
        },
        {
            "id": "MONDO:0029142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029142",
            "name": "hearing loss, autosomal recessive 111",
            "description": ""
        },
        {
            "id": "MONDO:0029142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029142",
            "name": "DFNB111",
            "description": ""
        },
        {
            "id": "MONDO:0029142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029142",
            "name": "deafness, autosomal recessive 111",
            "description": ""
        },
        {
            "id": "MIM:618145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618145",
            "name": "Deafness, autosomal recessive, 111",
            "description": "Deafness, autosomal recessive, 111"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111640"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111640",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111640",
            "categories": []
        },
        {
            "id": "MONDO:0029142",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029142",
            "categories": []
        },
        {
            "id": "MIM:618145",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618145",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PI84-1",
            "uniprot_ac": "A0A8M1PI84",
            "uniprot_id": "A0A8M1PI84_DANRE",
            "refseq_ac": "NP_997928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein zero-like protein 2b precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial V-like antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like 2",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like protein 2b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpzl2b",
                    "type": "recommended"
                },
                {
                    "name": "cb837",
                    "type": "synonym"
                },
                {
                    "name": "eva1",
                    "type": "synonym"
                },
                {
                    "name": "mpzl2b",
                    "type": "synonym"
                },
                {
                    "name": "mpzl2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb07b02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PI84-1",
            "evidence": [
                {
                    "id": "0111640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70255-1",
            "uniprot_ac": "O70255",
            "uniprot_id": "MPZL2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein zero-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Epithelial V-like antigen 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpzl2",
                    "type": "recommended"
                },
                {
                    "name": "Eva1",
                    "type": "synonym"
                },
                {
                    "name": "Eva",
                    "type": "synonym"
                }
            ],
            "record_id": "O70255-1",
            "evidence": [
                {
                    "id": "0111640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60487-1",
            "uniprot_ac": "O60487",
            "uniprot_id": "MPZL2_HUMAN",
            "refseq_ac": "NP_005788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein zero-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Epithelial V-like antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial V-like antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPZL2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB111",
                    "type": "synonym"
                },
                {
                    "name": "EVA1",
                    "type": "synonym"
                },
                {
                    "name": "EVA",
                    "type": "synonym"
                },
                {
                    "name": "MPZL2",
                    "type": "synonym"
                },
                {
                    "name": "PRO1192",
                    "type": "synonym"
                }
            ],
            "record_id": "O60487-1",
            "evidence": [
                {
                    "id": "618145",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618145"
                },
                {
                    "id": "0111640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111640"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAE2-1",
            "uniprot_ac": "D4AAE2",
            "uniprot_id": "D4AAE2_RAT",
            "refseq_ac": "NP_001100288",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin protein zero-like 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial V-like antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "myelin protein zero-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpzl2",
                    "type": "recommended"
                },
                {
                    "name": "Mpzl3",
                    "type": "recommended"
                },
                {
                    "name": "Eva1",
                    "type": "synonym"
                },
                {
                    "name": "Eva",
                    "type": "synonym"
                },
                {
                    "name": "Mpzl2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAE2-1",
            "evidence": [
                {
                    "id": "0111640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111640"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111640"
}