{
    "disease_id": "DOID:0080932",
    "recommended_name": {
        "id": "DOID:0080932",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080932",
        "name": "primary localized cutaneous amyloidosis 3",
        "description": "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions."
    },
    "synonyms": [
        {
            "id": "DOID:0080932",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080932",
            "name": "Amyloidosis cutis dyschromica",
            "description": ""
        },
        {
            "id": "MONDO:0054765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054765",
            "name": "amyloidosis, primary localized cutaneous, 3",
            "description": ""
        },
        {
            "id": "MONDO:0054765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054765",
            "name": "PLCA3",
            "description": ""
        },
        {
            "id": "MIM:617920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617920",
            "name": "Amyloidosis, primary localized cutaneous, 3",
            "description": "Amyloidosis, primary localized cutaneous, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080932"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080932",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080932",
            "categories": []
        },
        {
            "id": "MONDO:0054765",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054765",
            "categories": []
        },
        {
            "id": "MIM:617920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F7J7-1",
            "uniprot_ac": "E7F7J7",
            "uniprot_id": "E7F7J7_DANRE",
            "refseq_ac": "XP_009292522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane glycoprotein NMB isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein NMB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpnmb",
                    "type": "recommended"
                },
                {
                    "name": "gpnmb",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F7J7-1",
            "evidence": [
                {
                    "id": "0080932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P91-1",
            "uniprot_ac": "Q99P91",
            "uniprot_id": "GPNMB_MOUSE",
            "refseq_ac": "NP_444340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane glycoprotein NMB",
                    "type": "recommended"
                },
                {
                    "name": "DC-HIL",
                    "type": "synonym"
                },
                {
                    "name": "Dendritic cell-associated transmembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "Osteoactivin",
                    "type": "synonym"
                },
                {
                    "name": "dendritic cell-associated heparin sulfate proteoglycan-dependent integrin ligand",
                    "type": "synonym"
                },
                {
                    "name": "dendritic cell-associated transmembrane protein",
                    "type": "synonym"
                },
                {
                    "name": "iris pigment dispersion",
                    "type": "synonym"
                },
                {
                    "name": "osteoactivin",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein NMB precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein NMB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpnmb",
                    "type": "recommended"
                },
                {
                    "name": "DC-HIL",
                    "type": "synonym"
                },
                {
                    "name": "Dchil",
                    "type": "synonym"
                },
                {
                    "name": "Gpnmb",
                    "type": "synonym"
                },
                {
                    "name": "Hgfin",
                    "type": "synonym"
                },
                {
                    "name": "Nmb",
                    "type": "synonym"
                },
                {
                    "name": "ipd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P91-1",
            "evidence": [
                {
                    "id": "0080932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14956-1",
            "uniprot_ac": "Q14956",
            "uniprot_id": "GPNMB_HUMAN",
            "refseq_ac": "NP_001005340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane glycoprotein NMB",
                    "type": "recommended"
                },
                {
                    "name": "Hematopoietic growth factor inducible neurokinin-1 type",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein (transmembrane) nmb",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein nmb-like protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein nonmetastatic melanoma protein B",
                    "type": "synonym"
                },
                {
                    "name": "hematopoietic growth factor inducible neurokinin-1 type",
                    "type": "synonym"
                },
                {
                    "name": "osteoactivin",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein HGFIN",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein NMB isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane glycoprotein NMB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPNMB",
                    "type": "recommended"
                },
                {
                    "name": "GPNMB",
                    "type": "synonym"
                },
                {
                    "name": "HGFIN",
                    "type": "synonym"
                },
                {
                    "name": "NMB",
                    "type": "synonym"
                },
                {
                    "name": "PLCA3",
                    "type": "synonym"
                },
                {
                    "name": "PRO9925",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14956-1",
            "evidence": [
                {
                    "id": "617920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617920"
                },
                {
                    "id": "0080932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080932"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P7C7-1",
            "uniprot_ac": "Q6P7C7",
            "uniprot_id": "GPNMB_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane glycoprotein NMB",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpnmb",
                    "type": "recommended"
                }
            ],
            "record_id": "Q6P7C7-1",
            "evidence": [
                {
                    "id": "0080932",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080932"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080932"
}