{
    "disease_id": "DOID:0081076",
    "recommended_name": {
        "id": "DOID:0081076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081076",
        "name": "blastic plasmacytoid dendritic cell neoplasm",
        "description": "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes."
    },
    "synonyms": [
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor",
            "description": ""
        },
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "Agranular CD4+ Natural Killer Cell Leukemia",
            "description": ""
        },
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "Blastic NK-Cell Lymphoma",
            "description": ""
        },
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "Blastic Natural Killer Leukemia/Lymphoma",
            "description": ""
        },
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "CD4+/CD56+ Hematodermic Neoplasm",
            "description": ""
        },
        {
            "id": "DOID:0081076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "name": "natural killer (NK) cell leukemia/lymphoma",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081076",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081076",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UJQ1-1",
            "uniprot_ac": "Q9UJQ1",
            "uniprot_id": "LAMP5_HUMAN",
            "refseq_ac": "NP_001186826",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosome-associated membrane glycoprotein 5",
                    "type": "recommended"
                },
                {
                    "name": "BAD-LAMP",
                    "type": "synonym"
                },
                {
                    "name": "Brain and dendritic cell-associated LAMP",
                    "type": "synonym"
                },
                {
                    "name": "Brain-associated LAMP-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LAMP family protein C20orf103",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-5",
                    "type": "synonym"
                },
                {
                    "name": "Lysosome-associated membrane protein 5",
                    "type": "synonym"
                },
                {
                    "name": "brain and dendritic cell-associated LAMP",
                    "type": "synonym"
                },
                {
                    "name": "brain-associated LAMP-like protein",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal associated membrane protein family member 5",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 5 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lysosome-associated membrane glycoprotein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMP5",
                    "type": "recommended"
                },
                {
                    "name": "BAD-LAMP",
                    "type": "synonym"
                },
                {
                    "name": "BADLAMP",
                    "type": "synonym"
                },
                {
                    "name": "C20orf103",
                    "type": "synonym"
                },
                {
                    "name": "LAMP-5",
                    "type": "synonym"
                },
                {
                    "name": "LAMP5",
                    "type": "synonym"
                },
                {
                    "name": "UNC-46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJQ1-1",
            "evidence": [
                {
                    "id": "21642595",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/21642595"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [
        {
            "biomarker_id": "BB1478-1",
            "biomarker_canonical_id": "BB1478",
            "best_biomarker_role": [
                {
                    "role": "risk"
                }
            ],
            "biomarker_component": [
                {
                    "assessed_biomarker_entity": {
                        "recommended_name": "Lysosome-associated membrane glycoprotein 5",
                        "synonyms": [
                            {
                                "synonym": "Brain-associated LAMP-like protein"
                            },
                            {
                                "synonym": "BAD-LAMP"
                            },
                            {
                                "synonym": "Lysosome-associated membrane protein 5"
                            },
                            {
                                "synonym": "LAMP-5"
                            },
                            {
                                "synonym": "Brain and dendritic cell-associated LAMP"
                            }
                        ]
                    },
                    "biomarker": "increased levels of LAMP5",
                    "assessed_biomarker_entity_id": "Q9UJQ1-1",
                    "assessed_entity_type": "protein"
                }
            ],
            "evidence": [
                {
                    "id": "21642595",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/21642595"
                }
            ]
        }
    ],
    "association_flag": "1010",
    "record_id": "doid.0081076"
}