{
    "disease_id": "DOID:0112012",
    "recommended_name": {
        "id": "DOID:0112012",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112012",
        "name": "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques",
        "description": "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0112012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112012",
            "name": "OLMSX",
            "description": ""
        },
        {
            "id": "DOID:0112012",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112012",
            "name": "X-linked Olmsted syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010486",
            "name": "Olmsted syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010486",
            "name": "Olmsted syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010486",
            "name": "Olmsted syndrome, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010486",
            "name": "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked",
            "description": ""
        },
        {
            "id": "MIM:300918",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300918",
            "name": "Olmsted syndrome, X-linked",
            "description": "Olmsted syndrome, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112012"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112012",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112012",
            "categories": []
        },
        {
            "id": "MONDO:0010486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010486",
            "categories": []
        },
        {
            "id": "MIM:300918",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300918",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CHX6-1",
            "uniprot_ac": "Q8CHX6",
            "uniprot_id": "MBTP2_MOUSE",
            "refseq_ac": "NP_758511",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound transcription factor site-2 protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.85",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "S2P endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor protease, site 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "site-2 protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbtps2",
                    "type": "recommended"
                },
                {
                    "name": "9630032G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mbtps2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHX6-1",
            "evidence": [
                {
                    "id": "0112012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43462-1",
            "uniprot_ac": "O43462",
            "uniprot_id": "MBTP2_HUMAN",
            "refseq_ac": "NP_056968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound transcription factor site-2 protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.85",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "SREBPs intramembrane protease",
                    "type": "synonym"
                },
                {
                    "name": "Sterol regulatory element-binding proteins intramembrane protease",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "keratosis follicularis spinulosa decalvans",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor protease, site 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "sterol regulatory element-binding proteins intramembrane protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MBTPS2",
                    "type": "recommended"
                },
                {
                    "name": "BRESEK",
                    "type": "synonym"
                },
                {
                    "name": "IFAP",
                    "type": "synonym"
                },
                {
                    "name": "KFSDX",
                    "type": "synonym"
                },
                {
                    "name": "KFSD",
                    "type": "synonym"
                },
                {
                    "name": "MBTPS2",
                    "type": "synonym"
                },
                {
                    "name": "OI19",
                    "type": "synonym"
                },
                {
                    "name": "OLMSX",
                    "type": "synonym"
                },
                {
                    "name": "S2P",
                    "type": "synonym"
                }
            ],
            "record_id": "O43462-1",
            "evidence": [
                {
                    "id": "300918",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300918"
                },
                {
                    "id": "0112012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112012"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C6P6-1",
            "uniprot_ac": "P0C6P6",
            "uniprot_id": "TYY2_RAT",
            "refseq_ac": "NP_001364162",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor YY2",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor YY2-like",
                    "type": "synonym"
                },
                {
                    "name": "YY-2",
                    "type": "synonym"
                },
                {
                    "name": "Yin and yang 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor YY2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbtps2",
                    "type": "recommended"
                },
                {
                    "name": "Yy2",
                    "type": "recommended"
                },
                {
                    "name": "Mbtps2",
                    "type": "synonym"
                },
                {
                    "name": "YY-2",
                    "type": "synonym"
                },
                {
                    "name": "Yy2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C6P6-1",
            "evidence": [
                {
                    "id": "0112012",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112012"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112012"
}