{
    "disease_id": "DOID:0090112",
    "recommended_name": {
        "id": "DOID:0090112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090112",
        "name": "Nasu-Hakola disease",
        "description": "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "NHD",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "PLO-SL",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "PLOSL",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "presenile dementia with bone cysts",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0020749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020749",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0020749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020749",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",
            "description": ""
        },
        {
            "id": "MIM:221770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221770",
            "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",
            "description": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090112",
            "categories": []
        },
        {
            "id": "MONDO:0020749",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020749",
            "categories": []
        },
        {
            "id": "MIM:221770",
            "database": "MIM",
            "url": "https://www.omim.org/entry/221770",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HEV2-1",
            "uniprot_ac": "A0AC58HEV2",
            "uniprot_id": "A0AC58HEV2_DANRE",
            "refseq_ac": "XP_073780525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TYRO protein tyrosine kinase-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "DNAX-activation protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase-binding protein isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tyrobp",
                    "type": "recommended"
                },
                {
                    "name": "dap12",
                    "type": "synonym"
                },
                {
                    "name": "tyrobp",
                    "type": "synonym"
                },
                {
                    "name": "tyrpbp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HEV2-1",
            "evidence": [
                {
                    "id": "0090112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54885-1",
            "uniprot_ac": "O54885",
            "uniprot_id": "TYOBP_MOUSE",
            "refseq_ac": "NP_035792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TYRO protein tyrosine kinase-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "DNAX-activation protein 12",
                    "type": "synonym"
                },
                {
                    "name": "KAR-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Killer-activating receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase-binding protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "killer cell activating receptor associated protein",
                    "type": "synonym"
                },
                {
                    "name": "killer-activating receptor-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrobp",
                    "type": "recommended"
                },
                {
                    "name": "DAP12",
                    "type": "synonym"
                },
                {
                    "name": "Dap12",
                    "type": "synonym"
                },
                {
                    "name": "KARAP",
                    "type": "synonym"
                },
                {
                    "name": "Karap",
                    "type": "synonym"
                },
                {
                    "name": "Ly83",
                    "type": "synonym"
                },
                {
                    "name": "Tyrobp",
                    "type": "synonym"
                }
            ],
            "record_id": "O54885-1",
            "evidence": [
                {
                    "id": "0090112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43914-1",
            "uniprot_ac": "O43914",
            "uniprot_id": "TYOBP_HUMAN",
            "refseq_ac": "NP_001166985",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TYRO protein tyrosine kinase-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "DNAX adaptor protein 12",
                    "type": "synonym"
                },
                {
                    "name": "DNAX-activation protein 12",
                    "type": "synonym"
                },
                {
                    "name": "KAR-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Killer-activating receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase-binding protein isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "killer-activating receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYROBP",
                    "type": "recommended"
                },
                {
                    "name": "DAP12",
                    "type": "synonym"
                },
                {
                    "name": "KARAP",
                    "type": "synonym"
                },
                {
                    "name": "PLOSL1",
                    "type": "synonym"
                },
                {
                    "name": "PLOSL",
                    "type": "synonym"
                },
                {
                    "name": "TYROBP",
                    "type": "synonym"
                }
            ],
            "record_id": "O43914-1",
            "evidence": [
                {
                    "id": "221770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/221770"
                },
                {
                    "id": "0090112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6X9T7-1",
            "uniprot_ac": "Q6X9T7",
            "uniprot_id": "TYOBP_RAT",
            "refseq_ac": "NP_997690",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TYRO protein tyrosine kinase-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "DAP12",
                    "type": "synonym"
                },
                {
                    "name": "DNAX-activation protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase-binding protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "TYRO protein tyrosine kinase-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Tyro protein tyrosine kinase binding protein",
                    "type": "synonym"
                },
                {
                    "name": "killer cell activating receptor-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyrobp",
                    "type": "recommended"
                },
                {
                    "name": "Dap12",
                    "type": "synonym"
                },
                {
                    "name": "Karap",
                    "type": "synonym"
                },
                {
                    "name": "Tyrobp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6X9T7-1",
            "evidence": [
                {
                    "id": "0090112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090112"
}