{
    "disease_id": "DOID:0050639",
    "recommended_name": {
        "id": "DOID:0050639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050639",
        "name": "primary cutaneous amyloidosis",
        "description": "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis."
    },
    "synonyms": [
        {
            "id": "DOID:0050639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050639",
            "name": "PCA",
            "description": ""
        },
        {
            "id": "DOID:0050639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050639",
            "name": "familial primary localized cutaneous amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis, primary localized cutaneous, 1",
            "description": "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene."
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "OSMR primary cutaneous amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "PLCA1",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis 9",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis, primary cutaneous, 1",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis, primary localised cutaneous, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis, primary localized cutaneous, 1",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "amyloidosis, primary localized cutaneous, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "primary cutaneous amyloidosis caused by mutation in OSMR",
            "description": ""
        },
        {
            "id": "MONDO:0024522",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "name": "PCA",
            "description": ""
        },
        {
            "id": "MIM:105250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105250",
            "name": "Amyloidosis, primary localized cutaneous, 1",
            "description": "Amyloidosis, primary localized cutaneous, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0050637",
            "label": "Finnish type amyloidosis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080930",
            "label": "primary localized cutaneous amyloidosis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080931",
            "label": "primary localized cutaneous amyloidosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080932",
            "label": "primary localized cutaneous amyloidosis 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080932",
        "DOID:0050637",
        "DOID:0080931",
        "DOID:0080930",
        "DOID:0050639"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050639",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050639",
            "categories": []
        },
        {
            "id": "MONDO:0024522",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024522",
            "categories": []
        },
        {
            "id": "MIM:105250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42364-1",
            "uniprot_ac": "O42364",
            "uniprot_id": "APOEB_DANRE",
            "refseq_ac": "NP_571173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein Eb",
                    "type": "recommended"
                },
                {
                    "name": "Apo-Eb",
                    "type": "synonym"
                },
                {
                    "name": "ApoE-2",
                    "type": "synonym"
                },
                {
                    "name": "apo-Eb",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein Eb precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apoeb",
                    "type": "recommended"
                },
                {
                    "name": "apoeb",
                    "type": "synonym"
                },
                {
                    "name": "apoe",
                    "type": "synonym"
                },
                {
                    "name": "cb82",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh1311",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa03d06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa97a11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc95h12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj54e06",
                    "type": "synonym"
                },
                {
                    "name": "zeh1311",
                    "type": "synonym"
                }
            ],
            "record_id": "O42364-1",
            "evidence": [
                {
                    "id": "0050639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08226-1",
            "uniprot_ac": "P08226",
            "uniprot_id": "APOE_MOUSE",
            "refseq_ac": "NP_001292748",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein E",
                    "type": "recommended"
                },
                {
                    "name": "Apo-E",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoe",
                    "type": "recommended"
                },
                {
                    "name": "Apo-E",
                    "type": "synonym"
                },
                {
                    "name": "Apoe",
                    "type": "synonym"
                }
            ],
            "record_id": "P08226-1",
            "evidence": [
                {
                    "id": "0050639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99650-1",
            "uniprot_ac": "Q99650",
            "uniprot_id": "OSMR_HUMAN",
            "refseq_ac": "NP_001161827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oncostatin-M-specific receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "IL-31 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-31R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-31R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-31RB",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-31 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "OSMRbeta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-31 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M specific receptor beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M-specific receptor subunit beta isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M-specific receptor subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSMR",
                    "type": "recommended"
                },
                {
                    "name": "IL-31R-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-31RB",
                    "type": "synonym"
                },
                {
                    "name": "OSMRB",
                    "type": "synonym"
                },
                {
                    "name": "OSMRbeta",
                    "type": "synonym"
                },
                {
                    "name": "OSMR",
                    "type": "synonym"
                },
                {
                    "name": "PLCA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99650-1",
            "evidence": [
                {
                    "id": "105250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02650-1",
            "uniprot_ac": "P02650",
            "uniprot_id": "APOE_RAT",
            "refseq_ac": "NP_001257610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein E",
                    "type": "recommended"
                },
                {
                    "name": "Apo-E",
                    "type": "synonym"
                },
                {
                    "name": "apo-E",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoe",
                    "type": "recommended"
                },
                {
                    "name": "APOEA",
                    "type": "synonym"
                },
                {
                    "name": "Apoe",
                    "type": "synonym"
                }
            ],
            "record_id": "P02650-1",
            "evidence": [
                {
                    "id": "0050639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02649-1",
            "uniprot_ac": "P02649",
            "uniprot_id": "APOE_HUMAN",
            "refseq_ac": "NP_000032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein E",
                    "type": "recommended"
                },
                {
                    "name": "Apo-E",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein E isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein E3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APOE",
                    "type": "recommended"
                },
                {
                    "name": "AD2",
                    "type": "synonym"
                },
                {
                    "name": "APO-E",
                    "type": "synonym"
                },
                {
                    "name": "APOE",
                    "type": "synonym"
                },
                {
                    "name": "ApoE4",
                    "type": "synonym"
                },
                {
                    "name": "LDLCQ5",
                    "type": "synonym"
                },
                {
                    "name": "LPG",
                    "type": "synonym"
                }
            ],
            "record_id": "P02649-1",
            "evidence": [
                {
                    "id": "0050639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050639"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050639"
}