{
    "disease_id": "DOID:0111505",
    "recommended_name": {
        "id": "DOID:0111505",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111505",
        "name": "palmoplantar keratoderma-deafness syndrome",
        "description": "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "PPK-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "keratoderma palmoplantar deafness",
            "description": ""
        },
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "palmoplantar hyperkeratosis-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "palmoplantar hyperkeratosis-hearing loss syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "palmoplantar keratoderma with deafness",
            "description": ""
        },
        {
            "id": "DOID:0111505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "name": "palmoplantar keratoderma-hearing loss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "palmoplantar keratoderma-deafness syndrome",
            "description": "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance."
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "PPK-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "palmoplantar hyperkeratosis-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "palmoplantar hyperkeratosis-hearing loss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "palmoplantar keratoderma-hearing loss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "diffuse palmoplantar keratoderma with deafness (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "focal palmoplantar keratoderma with sensorineural deafness (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "hereditary palmoplantar keratoderma with deafness (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "keratoderma palmoplantar deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "keratoderma palmoplantar, with deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "name": "palmoplantar keratoderma and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MIM:148350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148350",
            "name": "Keratoderma, palmoplantar, with deafness",
            "description": "Keratoderma, palmoplantar, with deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111505"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111505",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111505",
            "categories": []
        },
        {
            "id": "MONDO:0007852",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007852",
            "categories": []
        },
        {
            "id": "MIM:148350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/148350",
            "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": "0111505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111505"
                }
            ]
        },
        {
            "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": "148350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/148350"
                },
                {
                    "id": "0111505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111505"
                }
            ]
        },
        {
            "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": "0111505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111505"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111505"
}