{
    "disease_id": "DOID:0080766",
    "recommended_name": {
        "id": "DOID:0080766",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080766",
        "name": "erythrokeratodermia variabilis et progressiva 6",
        "description": "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032801",
            "name": "erythrokeratodermia variabilis et progressiva 6",
            "description": ""
        },
        {
            "id": "MONDO:0032801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032801",
            "name": "EKVP6",
            "description": ""
        },
        {
            "id": "MIM:618531",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618531",
            "name": "Erythrokeratodermia variabilis et progressiva 6",
            "description": "Erythrokeratodermia variabilis et progressiva 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080766"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080766",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080766",
            "categories": []
        },
        {
            "id": "MONDO:0032801",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032801",
            "categories": []
        },
        {
            "id": "MIM:618531",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618531",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P6E5-1",
            "uniprot_ac": "A0A8M1P6E5",
            "uniprot_id": "A0A8M1P6E5_DANRE",
            "refseq_ac": "NP_001275744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4a",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4a",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential melastatin 4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm4a",
                    "type": "recommended"
                },
                {
                    "name": "sb:eu515",
                    "type": "synonym"
                },
                {
                    "name": "trpm4a",
                    "type": "synonym"
                },
                {
                    "name": "trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P6E5-1",
            "evidence": [
                {
                    "id": "0080766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AY04-1",
            "uniprot_ac": "A0A8M3AY04",
            "uniprot_id": "A0A8M3AY04_DANRE",
            "refseq_ac": "XP_009304689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm4b.1",
                    "type": "recommended"
                },
                {
                    "name": "trpm4b.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AY04-1",
            "evidence": [
                {
                    "id": "0080766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TN37-1",
            "uniprot_ac": "Q7TN37",
            "uniprot_id": "TRPM4_MOUSE",
            "refseq_ac": "NP_780339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential ion channel melastatin subgroup member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm4",
                    "type": "recommended"
                },
                {
                    "name": "1110030C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc4",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4B",
                    "type": "synonym"
                },
                {
                    "name": "Trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TN37-1",
            "evidence": [
                {
                    "id": "0080766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TD43-1",
            "uniprot_ac": "Q8TD43",
            "uniprot_id": "TRPM4_HUMAN",
            "refseq_ac": "NP_001182156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-4",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "hTRPM4",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM4",
                    "type": "recommended"
                },
                {
                    "name": "EKVP6",
                    "type": "synonym"
                },
                {
                    "name": "LTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1B",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4B",
                    "type": "synonym"
                },
                {
                    "name": "TRPM4",
                    "type": "synonym"
                },
                {
                    "name": "hTRPM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TD43-1",
            "evidence": [
                {
                    "id": "618531",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618531"
                },
                {
                    "id": "0080766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESQ5-1",
            "uniprot_ac": "Q9ESQ5",
            "uniprot_id": "TRPM4_RAT",
            "refseq_ac": "NP_001129701",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 4",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "LTrpC4",
                    "type": "synonym"
                },
                {
                    "name": "Long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "MLS2s",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-like 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated non-selective cation channel 1",
                    "type": "synonym"
                },
                {
                    "name": "long transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "melastatin like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-like 2",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm4",
                    "type": "recommended"
                },
                {
                    "name": "LTrpC-4",
                    "type": "synonym"
                },
                {
                    "name": "Ltrpc4",
                    "type": "synonym"
                },
                {
                    "name": "Mls2s",
                    "type": "synonym"
                },
                {
                    "name": "Trpm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESQ5-1",
            "evidence": [
                {
                    "id": "0080766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080766"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080766"
}