{
    "disease_id": "DOID:0070526",
    "recommended_name": {
        "id": "DOID:0070526",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070526",
        "name": "PLACK syndrome",
        "description": "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15."
    },
    "synonyms": [
        {
            "id": "DOID:0070526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070526",
            "name": "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads",
            "description": ""
        },
        {
            "id": "MONDO:0014574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014574",
            "name": "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014574",
            "name": "plack syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014574",
            "name": "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads",
            "description": ""
        },
        {
            "id": "MONDO:0014574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014574",
            "name": "plack",
            "description": ""
        },
        {
            "id": "MIM:616295",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616295",
            "name": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads",
            "description": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070526"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070526",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070526",
            "categories": []
        },
        {
            "id": "MONDO:0014574",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014574",
            "categories": []
        },
        {
            "id": "MIM:616295",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616295",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ALB2-1",
            "uniprot_ac": "A0A8M3ALB2",
            "uniprot_id": "A0A8M3ALB2_DANRE",
            "refseq_ac": "XP_009293484",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpastatin",
                    "type": "recommended"
                },
                {
                    "name": "Calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cast",
                    "type": "recommended"
                },
                {
                    "name": "cast",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb966",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194249",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ALB2-1",
            "evidence": [
                {
                    "id": "0070526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51125-1",
            "uniprot_ac": "P51125",
            "uniprot_id": "ICAL_MOUSE",
            "refseq_ac": "NP_001288082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpastatin",
                    "type": "recommended"
                },
                {
                    "name": "Calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin type III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cast",
                    "type": "recommended"
                },
                {
                    "name": "Cast",
                    "type": "synonym"
                }
            ],
            "record_id": "P51125-1",
            "evidence": [
                {
                    "id": "0070526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20810-1",
            "uniprot_ac": "P20810",
            "uniprot_id": "ICAL_HUMAN",
            "refseq_ac": "NP_001035905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpastatin",
                    "type": "recommended"
                },
                {
                    "name": "Calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "MIR583 host",
                    "type": "synonym"
                },
                {
                    "name": "Sperm BS-17 component",
                    "type": "synonym"
                },
                {
                    "name": "calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin isoform f",
                    "type": "synonym"
                },
                {
                    "name": "sperm BS-17 component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAST",
                    "type": "recommended"
                },
                {
                    "name": "BS-17",
                    "type": "synonym"
                },
                {
                    "name": "CAST",
                    "type": "synonym"
                },
                {
                    "name": "MIR583HG",
                    "type": "synonym"
                },
                {
                    "name": "PLACK",
                    "type": "synonym"
                }
            ],
            "record_id": "P20810-1",
            "evidence": [
                {
                    "id": "616295",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616295"
                },
                {
                    "id": "0070526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27321-1",
            "uniprot_ac": "P27321",
            "uniprot_id": "ICAL_RAT",
            "refseq_ac": "NP_001028887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpastatin",
                    "type": "recommended"
                },
                {
                    "name": "Calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cast",
                    "type": "recommended"
                },
                {
                    "name": "Cast",
                    "type": "synonym"
                }
            ],
            "record_id": "P27321-1",
            "evidence": [
                {
                    "id": "0070526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070526"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070526"
}