{
    "disease_id": "DOID:0081111",
    "recommended_name": {
        "id": "DOID:0081111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081111",
        "name": "osteosclerotic metaphyseal dysplasia",
        "description": "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014080",
            "name": "osteosclerotic metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0014080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014080",
            "name": "OSMD",
            "description": ""
        },
        {
            "id": "MONDO:0014080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014080",
            "name": "osteosclerotic metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:615198",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615198",
            "name": "Osteosclerotic metaphyseal dysplasia",
            "description": "Osteosclerotic metaphyseal dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081111"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081111",
            "categories": []
        },
        {
            "id": "MONDO:0014080",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014080",
            "categories": []
        },
        {
            "id": "MIM:615198",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615198",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UHC2-1",
            "uniprot_ac": "Q3UHC2",
            "uniprot_id": "LRRK1_MOUSE",
            "refseq_ac": "NP_666303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat serine/threonine-protein kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrk1",
                    "type": "recommended"
                },
                {
                    "name": "C230002E15Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130026O16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1790",
                    "type": "synonym"
                },
                {
                    "name": "Lrrk1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1790",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHC2-1",
            "evidence": [
                {
                    "id": "0081111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q38SD2-1",
            "uniprot_ac": "Q38SD2",
            "uniprot_id": "LRRK1_HUMAN",
            "refseq_ac": "NP_078928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat serine/threonine-protein kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRRK1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1790",
                    "type": "synonym"
                },
                {
                    "name": "LRRK1",
                    "type": "synonym"
                },
                {
                    "name": "OSMD",
                    "type": "synonym"
                },
                {
                    "name": "RIPK6",
                    "type": "synonym"
                },
                {
                    "name": "Roco1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q38SD2-1",
            "evidence": [
                {
                    "id": "615198",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615198"
                },
                {
                    "id": "0081111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B1B9-1",
            "uniprot_ac": "A0A8I6B1B9",
            "uniprot_id": "A0A8I6B1B9_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": "Leucine-rich repeat serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrk1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6B1B9-1",
            "evidence": [
                {
                    "id": "0081111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHT3-1",
            "uniprot_ac": "A0A0B4KHT3",
            "uniprot_id": "A0A0B4KHT3_DROME",
            "refseq_ac": "NP_001262772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG5483-PD",
                    "type": "synonym"
                },
                {
                    "name": "LRRK",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat kinase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Lrrk-PD",
                    "type": "synonym"
                },
                {
                    "name": "ortholog of LRRK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrk",
                    "type": "recommended"
                },
                {
                    "name": "CG5483",
                    "type": "synonym"
                },
                {
                    "name": "CT17358",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5483",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5483",
                    "type": "synonym"
                },
                {
                    "name": "LRRK2",
                    "type": "synonym"
                },
                {
                    "name": "LRRK",
                    "type": "synonym"
                },
                {
                    "name": "Lrrk2",
                    "type": "synonym"
                },
                {
                    "name": "Lrrk",
                    "type": "synonym"
                },
                {
                    "name": "dLRRK2",
                    "type": "synonym"
                },
                {
                    "name": "dLRRK",
                    "type": "synonym"
                },
                {
                    "name": "dLrrk2",
                    "type": "synonym"
                },
                {
                    "name": "dLrrk",
                    "type": "synonym"
                },
                {
                    "name": "lrrk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHT3-1",
            "evidence": [
                {
                    "id": "0081111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081111"
}