{
    "disease_id": "DOID:0080248",
    "recommended_name": {
        "id": "DOID:0080248",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080248",
        "name": "erythrokeratodermia variabilis et progressiva 2",
        "description": "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0033012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "name": "erythrokeratodermia variabilis et progressiva 2",
            "description": ""
        },
        {
            "id": "MONDO:0033012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "name": "EKVP2",
            "description": ""
        },
        {
            "id": "MIM:617524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617524",
            "name": "Erythrokeratodermia variabilis et progressiva 2",
            "description": "Erythrokeratodermia variabilis et progressiva 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080248"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080248",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080248",
            "categories": []
        },
        {
            "id": "MONDO:0033012",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "categories": []
        },
        {
            "id": "MIM:617524",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617524",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02738-1",
            "uniprot_ac": "Q02738",
            "uniprot_id": "CXB4_MOUSE",
            "refseq_ac": "NP_032153",
            "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-4 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cx30.3",
                    "type": "synonym"
                },
                {
                    "name": "connexin b",
                    "type": "synonym"
                },
                {
                    "name": "connexin-30.3",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-4 protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-4 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb4",
                    "type": "recommended"
                },
                {
                    "name": "Cnx30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cx30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cxnb",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-4",
                    "type": "synonym"
                },
                {
                    "name": "Gjb4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02738-1",
            "evidence": [
                {
                    "id": "0080248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NTQ9-1",
            "uniprot_ac": "Q9NTQ9",
            "uniprot_id": "CXB4_HUMAN",
            "refseq_ac": "NP_694944",
            "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-4 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cx30.3",
                    "type": "synonym"
                },
                {
                    "name": "connexin 30.3",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-4 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 4, 30.3kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJB4",
                    "type": "recommended"
                },
                {
                    "name": "CX30.3",
                    "type": "synonym"
                },
                {
                    "name": "EKVP2",
                    "type": "synonym"
                },
                {
                    "name": "EKV",
                    "type": "synonym"
                },
                {
                    "name": "GJB4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NTQ9-1",
            "evidence": [
                {
                    "id": "617524",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617524"
                },
                {
                    "id": "0080248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080248"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36380-1",
            "uniprot_ac": "P36380",
            "uniprot_id": "CXB4_RAT",
            "refseq_ac": "",
            "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-4 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-30.3",
                    "type": "synonym"
                },
                {
                    "name": "Cx30.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb4",
                    "type": "recommended"
                },
                {
                    "name": "Cxn-30.3",
                    "type": "synonym"
                }
            ],
            "record_id": "P36380-1",
            "evidence": [
                {
                    "id": "0080248",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080248"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080248"
}