{
    "disease_id": "DOID:0070525",
    "recommended_name": {
        "id": "DOID:0070525",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070525",
        "name": "peeling skin syndrome 6",
        "description": "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070525",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070525",
            "name": "PSS6",
            "description": ""
        },
        {
            "id": "MONDO:0054852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054852",
            "name": "peeling skin syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0054852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054852",
            "name": "peeling skin syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0054852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054852",
            "name": "PSS6",
            "description": ""
        },
        {
            "id": "MIM:618084",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618084",
            "name": "Peeling skin syndrome 6",
            "description": "Peeling skin syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070525"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070525",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070525",
            "categories": []
        },
        {
            "id": "MONDO:0054852",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054852",
            "categories": []
        },
        {
            "id": "MIM:618084",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618084",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2VIS4-1",
            "uniprot_ac": "Q2VIS4",
            "uniprot_id": "FILA2_MOUSE",
            "refseq_ac": "NP_001013826",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filaggrin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FLG-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate filament-associated protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "filaggrin-2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "intermediate filament-associated protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flg2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "EG229574",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Flg2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070525",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5D862-1",
            "uniprot_ac": "Q5D862",
            "uniprot_id": "FILA2_HUMAN",
            "refseq_ac": "NP_001014364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filaggrin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FLG-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ifapsoriasin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate filament-associated and psoriasis-susceptibility protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "filaggrin-2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ifapsoriasin; intermediate filament-associated and psoriasis susceptibility protein; filaggrin family member 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLG2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FLG2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IFPS; PSS6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "IFPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070525",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070525"
                },
                {
                    "id": "618084",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618084"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070525"
}