{
    "disease_id": "DOID:0070521",
    "recommended_name": {
        "id": "DOID:0070521",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070521",
        "name": "peeling skin syndrome 2",
        "description": "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070521",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070521",
            "name": "PSS2",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "acral peeling skin syndrome",
            "description": "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet."
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "acral PSS",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "acral deciduous skin",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "acral peeling skin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "localised PSS",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "localised deciduous skin",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "localized PSS",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "localized deciduous skin",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "peeling skin syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "PSS2",
            "description": ""
        },
        {
            "id": "MONDO:0012345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "name": "peeling skin syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:609796",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609796",
            "name": "Peeling skin syndrome 2",
            "description": "Peeling skin syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070521"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070521",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070521",
            "categories": []
        },
        {
            "id": "MONDO:0012345",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012345",
            "categories": []
        },
        {
            "id": "MIM:609796",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609796",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3BAQ1-1",
            "uniprot_ac": "A0A8M3BAQ1",
            "uniprot_id": "A0A8M3BAQ1_DANRE",
            "refseq_ac": "XP_009301053",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.44",
                    "type": "synonym"
                },
                {
                    "name": "Isopeptidase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine deamidase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine dopaminyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine histaminyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine noradrenalinyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine serotonyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Tissue transglutaminase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-2",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgm8",
                    "type": "recommended"
                },
                {
                    "name": "tgm8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BAQ1-1",
            "evidence": [
                {
                    "id": "0070521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D7I9-1",
            "uniprot_ac": "Q9D7I9",
            "uniprot_id": "TGM5_MOUSE",
            "refseq_ac": "NP_083075",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "TGase-5",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-5",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgm5",
                    "type": "recommended"
                },
                {
                    "name": "2310007C07Rik",
                    "type": "synonym"
                },
                {
                    "name": "TGMX",
                    "type": "synonym"
                },
                {
                    "name": "TGase-5",
                    "type": "synonym"
                },
                {
                    "name": "TGx",
                    "type": "synonym"
                },
                {
                    "name": "Tgm5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D7I9-1",
            "evidence": [
                {
                    "id": "0070521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43548-1",
            "uniprot_ac": "O43548",
            "uniprot_id": "TGM5_HUMAN",
            "refseq_ac": "NP_004236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "TG(X)",
                    "type": "synonym"
                },
                {
                    "name": "TGX",
                    "type": "synonym"
                },
                {
                    "name": "TGase X",
                    "type": "synonym"
                },
                {
                    "name": "TGase-5",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase X",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-5",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase V",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGM5",
                    "type": "recommended"
                },
                {
                    "name": "PSS2",
                    "type": "synonym"
                },
                {
                    "name": "TG(X)",
                    "type": "synonym"
                },
                {
                    "name": "TGASE5",
                    "type": "synonym"
                },
                {
                    "name": "TGASEX",
                    "type": "synonym"
                },
                {
                    "name": "TGM5",
                    "type": "synonym"
                },
                {
                    "name": "TGMX",
                    "type": "synonym"
                },
                {
                    "name": "TGX",
                    "type": "synonym"
                }
            ],
            "record_id": "O43548-1",
            "evidence": [
                {
                    "id": "609796",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609796"
                },
                {
                    "id": "0070521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K142-1",
            "uniprot_ac": "A0A0G2K142",
            "uniprot_id": "A0A0G2K142_RAT",
            "refseq_ac": "NP_001389208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-5",
                    "type": "synonym"
                },
                {
                    "name": "glutamine gamma-glutamyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 5",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase 7-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgm5",
                    "type": "recommended"
                },
                {
                    "name": "Tgm5",
                    "type": "synonym"
                },
                {
                    "name": "Tgm7l1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K142-1",
            "evidence": [
                {
                    "id": "0070521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070521"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLU2-1",
            "uniprot_ac": "Q9VLU2",
            "uniprot_id": "Q9VLU2_DROME",
            "refseq_ac": "NP_609174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "protein-glutamine gamma-glutamyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "CG7356-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tg-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-A",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tg",
                    "type": "recommended"
                },
                {
                    "name": "CG7356",
                    "type": "synonym"
                },
                {
                    "name": "DmTG",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7356",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7356",
                    "type": "synonym"
                },
                {
                    "name": "TG",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "dTG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "dTG",
                    "type": "synonym"
                },
                {
                    "name": "tg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU2-1",
            "evidence": [
                {
                    "id": "0070521",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070521"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070521"
}