{
    "disease_id": "DOID:0060862",
    "recommended_name": {
        "id": "DOID:0060862",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060862",
        "name": "mal de Meleda",
        "description": "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "Meleda disease",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "keratosis palmoplantaris transgrediens of Siemens",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "transgrediens palmoplantar keratoderma of Siemens",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "MDM",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "PPK, Gamborg-Nielsen type",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "PPKGN",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "PPKNR",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "palmoplantar keratoderma, Gamborg-Nielsen type",
            "description": ""
        },
        {
            "id": "DOID:0060862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "name": "palmoplantar keratoderma, Norrbotten type",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "mal de Meleda",
            "description": "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema."
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "Meleda Disease",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "Meleda disease",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "keratosis palmoplantaris transgrediens of Siemens",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "mal de Meleda",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "MDM",
            "description": ""
        },
        {
            "id": "MONDO:0009552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "name": "keratosis palmoplantaris transgradiens of Siemens",
            "description": ""
        },
        {
            "id": "MIM:248300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248300",
            "name": "Mal de Meleda",
            "description": "Mal de Meleda"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060862"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060862",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060862",
            "categories": []
        },
        {
            "id": "MONDO:0009552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009552",
            "categories": []
        },
        {
            "id": "MIM:248300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0K7-1",
            "uniprot_ac": "Q9Z0K7",
            "uniprot_id": "SLUR1_MOUSE",
            "refseq_ac": "NP_065265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted Ly-6/uPAR-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ARS component B",
                    "type": "synonym"
                },
                {
                    "name": "Ars component B",
                    "type": "synonym"
                },
                {
                    "name": "SLURP-1",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slurp1",
                    "type": "recommended"
                },
                {
                    "name": "1110021N19Rik",
                    "type": "synonym"
                },
                {
                    "name": "ARS",
                    "type": "synonym"
                },
                {
                    "name": "ArsB",
                    "type": "synonym"
                },
                {
                    "name": "Ars",
                    "type": "synonym"
                },
                {
                    "name": "Slurp-1",
                    "type": "synonym"
                },
                {
                    "name": "Slurp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0K7-1",
            "evidence": [
                {
                    "id": "0060862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55000-1",
            "uniprot_ac": "P55000",
            "uniprot_id": "SLUR1_HUMAN",
            "refseq_ac": "NP_065160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted Ly-6/uPAR-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ANUP",
                    "type": "synonym"
                },
                {
                    "name": "ARS component B",
                    "type": "synonym"
                },
                {
                    "name": "ARS(component B)-81/S",
                    "type": "synonym"
                },
                {
                    "name": "Anti-neoplastic urinary protein",
                    "type": "synonym"
                },
                {
                    "name": "SLURP-1",
                    "type": "synonym"
                },
                {
                    "name": "anti-neoplastic urinary protein",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 6-like secreted",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly6/uPAR related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLURP1",
                    "type": "recommended"
                },
                {
                    "name": "ANUP",
                    "type": "synonym"
                },
                {
                    "name": "ARS",
                    "type": "synonym"
                },
                {
                    "name": "ArsB",
                    "type": "synonym"
                },
                {
                    "name": "LY6-MT",
                    "type": "synonym"
                },
                {
                    "name": "LY6LS",
                    "type": "synonym"
                },
                {
                    "name": "MDM",
                    "type": "synonym"
                },
                {
                    "name": "SLURP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P55000-1",
            "evidence": [
                {
                    "id": "248300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248300"
                },
                {
                    "id": "0060862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7L8-1",
            "uniprot_ac": "D4A7L8",
            "uniprot_id": "D4A7L8_RAT",
            "refseq_ac": "NP_001124016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Secreted Ly6/Plaur domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted Ly-6/uPAR-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slurp1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308768",
                    "type": "synonym"
                },
                {
                    "name": "Slurp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7L8-1",
            "evidence": [
                {
                    "id": "0060862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060862"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060862"
}