{
    "disease_id": "DOID:0111339",
    "recommended_name": {
        "id": "DOID:0111339",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111339",
        "name": "Vohwinkel syndrome",
        "description": "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "KHM",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "Mutilating keratoderma plus deafness",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "PPK mutilans and deafness",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "VOWNKL",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "keratoderma hereditarium mutilans",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "mutilating keratoderma of Vohwinkel",
            "description": ""
        },
        {
            "id": "DOID:0111339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "name": "congenital deafness with keratopachydermia and constrictions fo fingers and toes",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "keratoderma hereditarium mutilans",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "PPK mutilans and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "Vohwinkel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "keratoderma hereditarium mutilans",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "mutilating keratoderma of Vohwinkel",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "mutilating keratoderma plus deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "KHM",
            "description": ""
        },
        {
            "id": "MONDO:0007422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "name": "VOWNKL",
            "description": ""
        },
        {
            "id": "MIM:124500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124500",
            "name": "Vohwinkel syndrome",
            "description": "Vohwinkel syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111339"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111339",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111339",
            "categories": []
        },
        {
            "id": "MONDO:0007422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007422",
            "categories": []
        },
        {
            "id": "MIM:124500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/124500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q00977-1",
            "uniprot_ac": "Q00977",
            "uniprot_id": "CXB2_MOUSE",
            "refseq_ac": "NP_032151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-26",
                    "type": "synonym"
                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "connexin e",
                    "type": "synonym"
                },
                {
                    "name": "connexin-26",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb2",
                    "type": "recommended"
                },
                {
                    "name": "Cnx26",
                    "type": "synonym"
                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-26",
                    "type": "synonym"
                },
                {
                    "name": "Cxne",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-2",
                    "type": "synonym"
                },
                {
                    "name": "Gjb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00977-1",
            "evidence": [
                {
                    "id": "0111339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29033-1",
            "uniprot_ac": "P29033",
            "uniprot_id": "CXB2_HUMAN",
            "refseq_ac": "NP_003995",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-26",
                    "type": "synonym"
                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "connexin 26",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta 2 proteinc",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 2, 26kDa",
                    "type": "synonym"
                },
                {
                    "name": "mutant gap junction beta 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "mutant gap junction protein beta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJB2",
                    "type": "recommended"
                },
                {
                    "name": "BAPS",
                    "type": "synonym"
                },
                {
                    "name": "CX26",
                    "type": "synonym"
                },
                {
                    "name": "DFNA3A",
                    "type": "synonym"
                },
                {
                    "name": "DFNA3",
                    "type": "synonym"
                },
                {
                    "name": "DFNB1A",
                    "type": "synonym"
                },
                {
                    "name": "DFNB1",
                    "type": "synonym"
                },
                {
                    "name": "GJB2",
                    "type": "synonym"
                },
                {
                    "name": "HID",
                    "type": "synonym"
                },
                {
                    "name": "KID",
                    "type": "synonym"
                },
                {
                    "name": "NSRD1",
                    "type": "synonym"
                },
                {
                    "name": "PPK",
                    "type": "synonym"
                }
            ],
            "record_id": "P29033-1",
            "evidence": [
                {
                    "id": "124500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/124500"
                },
                {
                    "id": "0111339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21994-1",
            "uniprot_ac": "P21994",
            "uniprot_id": "CXB2_RAT",
            "refseq_ac": "NP_001004099",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-2 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-26",
                    "type": "synonym"
                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "connexin e",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction channel protein connexin 26",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb2",
                    "type": "recommended"
                },
                {
                    "name": "CXN-26",
                    "type": "synonym"
                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-26",
                    "type": "synonym"
                },
                {
                    "name": "Cxne",
                    "type": "synonym"
                },
                {
                    "name": "Gjb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21994-1",
            "evidence": [
                {
                    "id": "0111339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111339"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111339"
}