{
    "disease_id": "DOID:0080930",
    "recommended_name": {
        "id": "DOID:0080930",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080930",
        "name": "primary localized cutaneous amyloidosis 1",
        "description": "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080930",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080930",
            "name": "familial primary localized cutaneous amyloidosis-1",
            "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_list": [
        "DOID:0080930"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080930",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080930",
            "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": "A0A0R4IE17-1",
            "uniprot_ac": "A0A0R4IE17",
            "uniprot_id": "A0A0R4IE17_DANRE",
            "refseq_ac": "NP_001014328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIF receptor subunit alpha a precursor",
                    "type": "synonym"
                },
                {
                    "name": "leukemia inhibitory factor receptor alpha a",
                    "type": "synonym"
                },
                {
                    "name": "leukemia inhibitory factor receptor.a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lifra",
                    "type": "recommended"
                },
                {
                    "name": "lifr.a",
                    "type": "synonym"
                },
                {
                    "name": "lifra",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112989",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IE17-1",
            "evidence": [
                {
                    "id": "0080930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70458-1",
            "uniprot_ac": "O70458",
            "uniprot_id": "OSMR_MOUSE",
            "refseq_ac": "NP_001297398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "interleukin-31 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin receptor",
                    "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": "OSMRB",
                    "type": "synonym"
                },
                {
                    "name": "Osmrb",
                    "type": "synonym"
                },
                {
                    "name": "Osmr",
                    "type": "synonym"
                }
            ],
            "record_id": "O70458-1",
            "evidence": [
                {
                    "id": "0080930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080930"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0080930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q65Z14-1",
            "uniprot_ac": "Q65Z14",
            "uniprot_id": "OSMR_RAT",
            "refseq_ac": "NP_001005384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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": "OSM-R",
                    "type": "synonym"
                },
                {
                    "name": "OSM-specific receptor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-31 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin M specific receptor",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M-specific receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "oncostatin-M-specific receptor subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Osmr",
                    "type": "recommended"
                },
                {
                    "name": "Osmrb",
                    "type": "synonym"
                },
                {
                    "name": "Osmr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q65Z14-1",
            "evidence": [
                {
                    "id": "0080930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080930"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080930"
}