{
    "disease_id": "DOID:0111195",
    "recommended_name": {
        "id": "DOID:0111195",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111195",
        "name": "erythrokeratodermia variabilis et progressiva 1",
        "description": "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3."
    },
    "synonyms": [
        {
            "id": "MONDO:0033010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033010",
            "name": "erythrokeratodermia variabilis et progressiva 1",
            "description": ""
        },
        {
            "id": "MONDO:0033010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033010",
            "name": "EKVP1",
            "description": ""
        },
        {
            "id": "MIM:133200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133200",
            "name": "Erythrokeratodermia variabilis et progressiva 1",
            "description": "Erythrokeratodermia variabilis et progressiva 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111195"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111195",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111195",
            "categories": []
        },
        {
            "id": "MONDO:0033010",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033010",
            "categories": []
        },
        {
            "id": "MIM:133200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/133200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28231-1",
            "uniprot_ac": "P28231",
            "uniprot_id": "CXB3_MOUSE",
            "refseq_ac": "NP_001153484",
            "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-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin c",
                    "type": "synonym"
                },
                {
                    "name": "connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb3",
                    "type": "recommended"
                },
                {
                    "name": "Cnx31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-31",
                    "type": "synonym"
                },
                {
                    "name": "Cxnc",
                    "type": "synonym"
                },
                {
                    "name": "D4Wsu144e",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gjb3",
                    "type": "synonym"
                }
            ],
            "record_id": "P28231-1",
            "evidence": [
                {
                    "id": "0111195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75712-1",
            "uniprot_ac": "O75712",
            "uniprot_id": "CXB3_HUMAN",
            "refseq_ac": "NP_001005752",
            "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-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin 31",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 3, 31kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJB3",
                    "type": "recommended"
                },
                {
                    "name": "CX31",
                    "type": "synonym"
                },
                {
                    "name": "DFNA2B",
                    "type": "synonym"
                },
                {
                    "name": "DFNA2",
                    "type": "synonym"
                },
                {
                    "name": "EKVP1",
                    "type": "synonym"
                },
                {
                    "name": "EKV",
                    "type": "synonym"
                },
                {
                    "name": "GJB3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75712-1",
            "evidence": [
                {
                    "id": "133200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133200"
                },
                {
                    "id": "0111195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25305-1",
            "uniprot_ac": "P25305",
            "uniprot_id": "CXB3_RAT",
            "refseq_ac": "NP_062113",
            "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-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin c",
                    "type": "synonym"
                },
                {
                    "name": "connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "cx31",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb3",
                    "type": "recommended"
                },
                {
                    "name": "Cxn-31",
                    "type": "synonym"
                },
                {
                    "name": "Cxnc",
                    "type": "synonym"
                },
                {
                    "name": "Gjb3",
                    "type": "synonym"
                }
            ],
            "record_id": "P25305-1",
            "evidence": [
                {
                    "id": "0111195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16643-1",
            "uniprot_ac": "Q16643",
            "uniprot_id": "DREB_HUMAN",
            "refseq_ac": "NP_001350470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Drebrin",
                    "type": "recommended"
                },
                {
                    "name": "Developmentally-regulated brain protein",
                    "type": "synonym"
                },
                {
                    "name": "developmentally-regulated brain protein",
                    "type": "synonym"
                },
                {
                    "name": "drebrin A",
                    "type": "synonym"
                },
                {
                    "name": "drebrin E2",
                    "type": "synonym"
                },
                {
                    "name": "drebrin isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DBN1",
                    "type": "recommended"
                },
                {
                    "name": "D0S117E",
                    "type": "synonym"
                },
                {
                    "name": "DBN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16643-1",
            "evidence": [
                {
                    "id": "0111195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111195"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111195"
}