{
    "disease_id": "DOID:0112011",
    "recommended_name": {
        "id": "DOID:0112011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112011",
        "name": "mutilating palmoplantar keratoderma with periorificial keratotic plaques",
        "description": "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions."
    },
    "synonyms": [
        {
            "id": "DOID:0112011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112011",
            "name": "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques",
            "description": ""
        },
        {
            "id": "DOID:0112011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112011",
            "name": "OLMS",
            "description": ""
        },
        {
            "id": "DOID:0112011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112011",
            "name": "Olmsted syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112011",
            "name": "palmoplantar and periorificial keratoderma",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0112012",
            "label": "X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112013",
            "label": "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0112012",
        "DOID:0112013",
        "DOID:0112011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112011",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QHT9-1",
            "uniprot_ac": "E9QHT9",
            "uniprot_id": "PERP_DANRE",
            "refseq_ac": "NP_001243136",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "recommended"
                },
                {
                    "name": "PERP, TP53 apoptosis effector",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "perp",
                    "type": "recommended"
                },
                {
                    "name": "fk24g11",
                    "type": "synonym"
                },
                {
                    "name": "perp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk24g11",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QHT9-1",
            "evidence": [
                {
                    "id": "0112011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK95-1",
            "uniprot_ac": "Q9JK95",
            "uniprot_id": "PERP_MOUSE",
            "refseq_ac": "NP_071315",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "recommended"
                },
                {
                    "name": "KCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis effector related to Pmp22",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis-associated target",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Perp",
                    "type": "recommended"
                },
                {
                    "name": "1110017A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "KCP1",
                    "type": "synonym"
                },
                {
                    "name": "KRTCAP1",
                    "type": "synonym"
                },
                {
                    "name": "Krtcap1",
                    "type": "synonym"
                },
                {
                    "name": "PIGPC1",
                    "type": "synonym"
                },
                {
                    "name": "Perp",
                    "type": "synonym"
                },
                {
                    "name": "THW",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK95-1",
            "evidence": [
                {
                    "id": "0112011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GVC0-1",
            "uniprot_ac": "B2GVC0",
            "uniprot_id": "B2GVC0_RAT",
            "refseq_ac": "NP_001099735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "recommended"
                },
                {
                    "name": "Keratinocyte-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PERP, TP53 apoptosis effector",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Perp",
                    "type": "recommended"
                },
                {
                    "name": "Perp",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GVC0-1",
            "evidence": [
                {
                    "id": "0112011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHK8-1",
            "uniprot_ac": "A0A0B4LHK8",
            "uniprot_id": "A0A0B4LHK8_DROME",
            "refseq_ac": "NP_001287471",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 47",
                    "type": "recommended"
                },
                {
                    "name": "CG45049-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG6982",
                    "type": "recommended"
                },
                {
                    "name": "CG17618",
                    "type": "synonym"
                },
                {
                    "name": "CG45049",
                    "type": "synonym"
                },
                {
                    "name": "CG6982",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG45049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG45049",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHK8-1",
            "evidence": [
                {
                    "id": "0112011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FX8-1",
            "uniprot_ac": "Q96FX8",
            "uniprot_id": "PERP_HUMAN",
            "refseq_ac": "NP_071404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "recommended"
                },
                {
                    "name": "1110017A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "KCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "P53-induced protein PIGPC1",
                    "type": "synonym"
                },
                {
                    "name": "PERP, TP53 apoptosis effector",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein THW",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "keratinocytes associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "p53 apoptosis effector related to PMP-22",
                    "type": "synonym"
                },
                {
                    "name": "p53-induced protein PIGPC1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein THW",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PERP",
                    "type": "recommended"
                },
                {
                    "name": "EKVP7",
                    "type": "synonym"
                },
                {
                    "name": "KCP1",
                    "type": "synonym"
                },
                {
                    "name": "KRTCAP1",
                    "type": "synonym"
                },
                {
                    "name": "OLMS2",
                    "type": "synonym"
                },
                {
                    "name": "PERP",
                    "type": "synonym"
                },
                {
                    "name": "PIGPC1",
                    "type": "synonym"
                },
                {
                    "name": "THW",
                    "type": "synonym"
                },
                {
                    "name": "dJ496H19.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FX8-1",
            "evidence": [
                {
                    "id": "0112011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112011"
}