{
    "disease_id": "DOID:0060256",
    "recommended_name": {
        "id": "DOID:0060256",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060256",
        "name": "Dowling-Degos disease",
        "description": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."
    },
    "synonyms": [
        {
            "id": "DOID:0060256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060256",
            "name": "dark dot disease",
            "description": ""
        },
        {
            "id": "DOID:0060256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060256",
            "name": "reticular pigment anomaly of flexures",
            "description": ""
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "Dowling-Degos disease 2",
            "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene."
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "Dowling-Degos disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "Dowling-Degos disease caused by mutation in POFUT1",
            "description": ""
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "Dowling-Degos disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "POFUT1 Dowling-Degos disease",
            "description": ""
        },
        {
            "id": "MONDO:0014130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "name": "DDD2",
            "description": ""
        },
        {
            "id": "MONDO:0014301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014301",
            "name": "dowling-degos disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0014301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014301",
            "name": "DDD3",
            "description": ""
        },
        {
            "id": "MONDO:0014301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014301",
            "name": "Dowling-Degos disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "Dowling-Degos disease 4",
            "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene."
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "Dowling-Degos disease 4",
            "description": ""
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "Dowling-Degos disease caused by mutation in POGLUT1",
            "description": ""
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "Dowling-Degos disease type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "POGLUT1 Dowling-Degos disease",
            "description": ""
        },
        {
            "id": "MONDO:0014307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "name": "DDD4",
            "description": ""
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "Dowling-Degos disease 1",
            "description": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene."
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "Dowling-Degos disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "Dowling-Degos disease caused by mutation in KRT5",
            "description": ""
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "KRT5 Dowling-Degos disease",
            "description": ""
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "DDD",
            "description": ""
        },
        {
            "id": "MONDO:0024534",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "name": "DDD1",
            "description": ""
        },
        {
            "id": "MIM:615327",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615327",
            "name": "Dowling-Degos disease 2",
            "description": "Dowling-Degos disease 2"
        },
        {
            "id": "MIM:615696",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615696",
            "name": "Dowling-Degos disease 4",
            "description": "Dowling-Degos disease 4"
        },
        {
            "id": "MIM:179850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/179850",
            "name": "Dowling-Degos disease 1",
            "description": "Dowling-Degos disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060256"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060256",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060256",
            "categories": []
        },
        {
            "id": "MONDO:0014130",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014130",
            "categories": []
        },
        {
            "id": "MONDO:0014301",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014301",
            "categories": []
        },
        {
            "id": "MONDO:0014307",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014307",
            "categories": []
        },
        {
            "id": "MONDO:0024534",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024534",
            "categories": []
        },
        {
            "id": "MIM:615327",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615327",
            "categories": []
        },
        {
            "id": "MIM:615696",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615696",
            "categories": []
        },
        {
            "id": "MIM:179850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/179850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QV31-1",
            "uniprot_ac": "F1QV31",
            "uniprot_id": "F1QV31_DANRE",
            "refseq_ac": "NP_571231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type II cytokeratin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt5",
                    "type": "recommended"
                },
                {
                    "name": "ckii",
                    "type": "synonym"
                },
                {
                    "name": "krt5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02h09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj02d02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk78b12",
                    "type": "synonym"
                },
                {
                    "name": "zfCKII",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QV31-1",
            "evidence": [
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1R676-1",
            "uniprot_ac": "F1R676",
            "uniprot_id": "F1R676_DANRE",
            "refseq_ac": "NP_991281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.221",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-O-fucosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pofut1",
                    "type": "recommended"
                },
                {
                    "name": "fut12",
                    "type": "synonym"
                },
                {
                    "name": "pofut1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110472",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R676-1",
            "evidence": [
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922U2-1",
            "uniprot_ac": "Q922U2",
            "uniprot_id": "K2C5_MOUSE",
            "refseq_ac": "NP_081287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb5",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 5",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "tuftelin interacting protein 8",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt5",
                    "type": "recommended"
                },
                {
                    "name": "3300001P10Rik",
                    "type": "synonym"
                },
                {
                    "name": "CK5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-5",
                    "type": "synonym"
                },
                {
                    "name": "Krt5",
                    "type": "synonym"
                },
                {
                    "name": "Tfip8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922U2-1",
            "evidence": [
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYB9-1",
            "uniprot_ac": "Q8BYB9",
            "uniprot_id": "PGLT1_MOUSE",
            "refseq_ac": "NP_759012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-glucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.376",
                    "type": "synonym"
                },
                {
                    "name": "2.4.2.63",
                    "type": "synonym"
                },
                {
                    "name": "CAP10-like 46 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "KTEL (Lys-Tyr-Glu-Leu) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "O-glucosyltransferase Rumi homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "Wing-shaped neural plate protein",
                    "type": "synonym"
                },
                {
                    "name": "Wsnp",
                    "type": "synonym"
                },
                {
                    "name": "protein O-glucosyltransferase 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "wing-shaped neural plate protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poglut1",
                    "type": "recommended"
                },
                {
                    "name": "9630046K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Clp46",
                    "type": "synonym"
                },
                {
                    "name": "Ktelc1",
                    "type": "synonym"
                },
                {
                    "name": "Poglut1",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "wsnp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYB9-1",
            "evidence": [
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZW2-1",
            "uniprot_ac": "Q91ZW2",
            "uniprot_id": "OFUT1_MOUSE",
            "refseq_ac": "NP_536711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.221",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "O-FucT-1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-O-fucosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "peptide-O-fucosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pofut1",
                    "type": "recommended"
                },
                {
                    "name": "O-FucT-1",
                    "type": "synonym"
                },
                {
                    "name": "Pofut1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZW2-1",
            "evidence": [
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H488-1",
            "uniprot_ac": "Q9H488",
            "uniprot_id": "OFUT1_HUMAN",
            "refseq_ac": "NP_056167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.221",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose protein O-fucosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "O-FucT-1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide-O-fucosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "o-fucosyltransferase protein",
                    "type": "synonym"
                },
                {
                    "name": "peptide-O-fucosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POFUT1",
                    "type": "recommended"
                },
                {
                    "name": "DDD2",
                    "type": "synonym"
                },
                {
                    "name": "FUT12",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0180",
                    "type": "synonym"
                },
                {
                    "name": "O-FUT",
                    "type": "synonym"
                },
                {
                    "name": "O-Fuc-T",
                    "type": "synonym"
                },
                {
                    "name": "O-FucT-1",
                    "type": "synonym"
                },
                {
                    "name": "OFUCT1",
                    "type": "synonym"
                },
                {
                    "name": "POFUT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H488-1",
            "evidence": [
                {
                    "id": "0014130",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014130"
                },
                {
                    "id": "615327",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615327"
                },
                {
                    "id": "0060256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13647-1",
            "uniprot_ac": "P13647",
            "uniprot_id": "K2C5_HUMAN",
            "refseq_ac": "NP_000415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cytoskeletal 5",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "58 kda cytokeratin",
                    "type": "synonym"
                },
                {
                    "name": "CK-5",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "K5",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-5",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb5",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-5",
                    "type": "synonym"
                },
                {
                    "name": "epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 5, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cytoskeletal 5",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT5",
                    "type": "recommended"
                },
                {
                    "name": "CK5",
                    "type": "synonym"
                },
                {
                    "name": "DDD1",
                    "type": "synonym"
                },
                {
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                    "name": "EBS2B",
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                    "name": "EBS2F",
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                    "name": "EBS2",
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                    "id": "0060256",
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    "record_id": "doid.0060256"
}