{
    "disease_id": "DOID:0081108",
    "recommended_name": {
        "id": "DOID:0081108",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081108",
        "name": "keratosis palmoplantaris striata 1",
        "description": "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "palmoplantar keratoderma i, striate, focal, or diffuse",
            "description": ""
        },
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "keratosis palmoplantaris striata i, AD",
            "description": ""
        },
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "palmoplantar keratoderma i, striate, focal, or diffuse",
            "description": ""
        },
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "PPKS1",
            "description": ""
        },
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "SPPK1",
            "description": ""
        },
        {
            "id": "MONDO:0007859",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "name": "keratoderma, palmoplantar striate form 1",
            "description": ""
        },
        {
            "id": "MIM:148700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/148700",
            "name": "Palmoplantar keratoderma 1, striate, focal, or diffuse",
            "description": "Palmoplantar keratoderma 1, striate, focal, or diffuse"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081108"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081108",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081108",
            "categories": []
        },
        {
            "id": "MONDO:0007859",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007859",
            "categories": []
        },
        {
            "id": "MIM:148700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/148700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BIB6-1",
            "uniprot_ac": "A0A8M2BIB6",
            "uniprot_id": "DSG2L_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2-like protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2l",
                    "type": "recommended"
                },
                {
                    "name": "dsgb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BIB6-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "H2EQR6-1",
            "uniprot_ac": "H2EQR6",
            "uniprot_id": "DSG21_DANRE",
            "refseq_ac": "NP_001243566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2.1",
                    "type": "recommended"
                },
                {
                    "name": "Dsg alpha",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin a",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2.1",
                    "type": "recommended"
                },
                {
                    "name": "dsc",
                    "type": "synonym"
                },
                {
                    "name": "dsg2.1",
                    "type": "synonym"
                },
                {
                    "name": "dsg2",
                    "type": "synonym"
                },
                {
                    "name": "dsga",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-51f12.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj23f02",
                    "type": "synonym"
                }
            ],
            "record_id": "H2EQR6-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSF0-1",
            "uniprot_ac": "Q7TSF0",
            "uniprot_id": "DSG1C_MOUSE",
            "refseq_ac": "NP_859008",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-1-gamma",
                    "type": "recommended"
                },
                {
                    "name": "Desmoglein-6",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein 6",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1-gamma preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg1c",
                    "type": "recommended"
                },
                {
                    "name": "Dsg1c",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1gamma",
                    "type": "synonym"
                },
                {
                    "name": "Dsg6",
                    "type": "synonym"
                },
                {
                    "name": "dsg1g",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSF0-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61495-1",
            "uniprot_ac": "Q61495",
            "uniprot_id": "DSG1A_MOUSE",
            "refseq_ac": "NP_034209",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-1-alpha",
                    "type": "recommended"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DGI",
                    "type": "synonym"
                },
                {
                    "name": "Desmoglein-1",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein I",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1-alpha preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg1a",
                    "type": "recommended"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DGI",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1a",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1",
                    "type": "synonym"
                },
                {
                    "name": "dsg1-alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61495-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSF1-1",
            "uniprot_ac": "Q7TSF1",
            "uniprot_id": "DSG1B_MOUSE",
            "refseq_ac": "NP_859010",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-1-beta",
                    "type": "recommended"
                },
                {
                    "name": "Desmoglein-5",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1-beta",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein 5",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1-beta preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg1b",
                    "type": "recommended"
                },
                {
                    "name": "Dsg1b",
                    "type": "synonym"
                },
                {
                    "name": "Dsg5",
                    "type": "synonym"
                },
                {
                    "name": "dsg1-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSF1-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02413-1",
            "uniprot_ac": "Q02413",
            "uniprot_id": "DSG1_HUMAN",
            "refseq_ac": "NP_001933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-1",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 4",
                    "type": "synonym"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DGI",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Pemphigus foliaceus antigen",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 4",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "pemphigus foliaceus antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSG1",
                    "type": "recommended"
                },
                {
                    "name": "CDHF4",
                    "type": "synonym"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "DSG1",
                    "type": "synonym"
                },
                {
                    "name": "DSG",
                    "type": "synonym"
                },
                {
                    "name": "EPKHE",
                    "type": "synonym"
                },
                {
                    "name": "EPKHIA",
                    "type": "synonym"
                },
                {
                    "name": "PPKS1",
                    "type": "synonym"
                },
                {
                    "name": "SPPK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02413-1",
            "evidence": [
                {
                    "id": "148700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/148700"
                },
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZM39-1",
            "uniprot_ac": "D3ZM39",
            "uniprot_id": "D3ZM39_RAT",
            "refseq_ac": "NP_001419356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein 1",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein 1 beta",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein 1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg1",
                    "type": "recommended"
                },
                {
                    "name": "Dsg1b",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1c",
                    "type": "synonym"
                },
                {
                    "name": "Dsg1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZM39-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70473-1",
            "uniprot_ac": "P70473",
            "uniprot_id": "AMACR_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": "Alpha-methylacyl-CoA racemase",
                    "type": "recommended"
                },
                {
                    "name": "2-arylpropionyl-CoA epimerase",
                    "type": "synonym"
                },
                {
                    "name": "2-methylacyl-CoA racemase",
                    "type": "synonym"
                },
                {
                    "name": "5.1.99.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amacr",
                    "type": "recommended"
                }
            ],
            "record_id": "P70473-1",
            "evidence": [
                {
                    "id": "0081108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081108"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081108"
}