{
    "disease_id": "DOID:0070524",
    "recommended_name": {
        "id": "DOID:0070524",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070524",
        "name": "peeling skin syndrome 5",
        "description": "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070524",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070524",
            "name": "PSS5",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "peeling skin syndrome 5",
            "description": "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene."
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "PSS5",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "SERPINB8 peeling skin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "peeling skin syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "peeling skin syndrome 5; PSS5",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "peeling skin syndrome caused by mutation in SERPINB8",
            "description": ""
        },
        {
            "id": "MONDO:0014923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "name": "peeling skin syndrome type 5",
            "description": ""
        },
        {
            "id": "MIM:617115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617115",
            "name": "Peeling skin syndrome 5",
            "description": "Peeling skin syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070524"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070524",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070524",
            "categories": []
        },
        {
            "id": "MONDO:0014923",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014923",
            "categories": []
        },
        {
            "id": "MIM:617115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9A9-1",
            "uniprot_ac": "F1R9A9",
            "uniprot_id": "F1R9A9_DANRE",
            "refseq_ac": "NP_001009892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leukocyte elastase inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "Serpin B1",
                    "type": "synonym"
                },
                {
                    "name": "Serpin B6",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade B (ovalbumin), member 1, like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serpinb1l1",
                    "type": "recommended"
                },
                {
                    "name": "serpinb1l1",
                    "type": "synonym"
                },
                {
                    "name": "serpinb1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9A9-1",
            "evidence": [
                {
                    "id": "0070524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08800-1",
            "uniprot_ac": "O08800",
            "uniprot_id": "SPB8_MOUSE",
            "refseq_ac": "NP_035589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin B8",
                    "type": "recommended"
                },
                {
                    "name": "serine (or cysteine) peptdiase inhibitor, clade B, member 8",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade B, member 8",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 8",
                    "type": "synonym"
                },
                {
                    "name": "serpin B8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin B8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinb8",
                    "type": "recommended"
                },
                {
                    "name": "CAP-2",
                    "type": "synonym"
                },
                {
                    "name": "CAP2",
                    "type": "synonym"
                },
                {
                    "name": "NK10",
                    "type": "synonym"
                },
                {
                    "name": "Serpinb8",
                    "type": "synonym"
                },
                {
                    "name": "Spi8",
                    "type": "synonym"
                },
                {
                    "name": "ovalbumin",
                    "type": "synonym"
                }
            ],
            "record_id": "O08800-1",
            "evidence": [
                {
                    "id": "0070524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50452-1",
            "uniprot_ac": "P50452",
            "uniprot_id": "SPB8_HUMAN",
            "refseq_ac": "NP_001027018",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serpin B8",
                    "type": "recommended"
                },
                {
                    "name": "CAP-2",
                    "type": "synonym"
                },
                {
                    "name": "CAP2",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasmic antiproteinase 2",
                    "type": "synonym"
                },
                {
                    "name": "PI-8",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase inhibitor 8",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic antiproteinase 2",
                    "type": "synonym"
                },
                {
                    "name": "peptidase inhibitor 8",
                    "type": "synonym"
                },
                {
                    "name": "protease inhibitor 8 (ovalbumin type)",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8",
                    "type": "synonym"
                },
                {
                    "name": "serpin B8 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "serpin B8",
                    "type": "synonym"
                },
                {
                    "name": "serpin peptidase inhibitor, clade B (ovalbumin), member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERPINB8",
                    "type": "recommended"
                },
                {
                    "name": "C18orf53",
                    "type": "synonym"
                },
                {
                    "name": "CAP2",
                    "type": "synonym"
                },
                {
                    "name": "PI-8",
                    "type": "synonym"
                },
                {
                    "name": "PI8",
                    "type": "synonym"
                },
                {
                    "name": "PSS5",
                    "type": "synonym"
                },
                {
                    "name": "SERPINB8",
                    "type": "synonym"
                }
            ],
            "record_id": "P50452-1",
            "evidence": [
                {
                    "id": "617115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617115"
                },
                {
                    "id": "0070524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7H6-1",
            "uniprot_ac": "A0A0G2K7H6",
            "uniprot_id": "A0A0G2K7H6_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": "Serpin B12",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpinb8",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K7H6-1",
            "evidence": [
                {
                    "id": "0070524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLU4-1",
            "uniprot_ac": "Q9VLU4",
            "uniprot_id": "SP28D_DROME",
            "refseq_ac": "NP_609172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor 28Dc",
                    "type": "recommended"
                },
                {
                    "name": "CG7219-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dm-serpin-28D",
                    "type": "synonym"
                },
                {
                    "name": "Serpin 28Dc",
                    "type": "synonym"
                },
                {
                    "name": "Serpin-28D",
                    "type": "synonym"
                },
                {
                    "name": "Serpin28Dc",
                    "type": "synonym"
                },
                {
                    "name": "Spn28Dc-PA",
                    "type": "synonym"
                },
                {
                    "name": "serpin 28Dc",
                    "type": "synonym"
                },
                {
                    "name": "serpin 28D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spn28Dc",
                    "type": "recommended"
                },
                {
                    "name": "CG7219",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Spn28D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7219",
                    "type": "synonym"
                },
                {
                    "name": "Spn28Dc",
                    "type": "synonym"
                },
                {
                    "name": "Spn28D",
                    "type": "synonym"
                },
                {
                    "name": "spn28D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU4-1",
            "evidence": [
                {
                    "id": "0070524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070524"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070524"
}