{
    "disease_id": "DOID:0111858",
    "recommended_name": {
        "id": "DOID:0111858",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111858",
        "name": "primary ciliary dyskinesia 41",
        "description": "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111858",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111858",
            "name": "CILD41",
            "description": ""
        },
        {
            "id": "MONDO:0032757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032757",
            "name": "ciliary dyskinesia, primary, 41",
            "description": ""
        },
        {
            "id": "MONDO:0032757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032757",
            "name": "CILD41",
            "description": ""
        },
        {
            "id": "MIM:618449",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618449",
            "name": "Ciliary dyskinesia, primary, 41",
            "description": "Ciliary dyskinesia, primary, 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111858"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111858",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111858",
            "categories": []
        },
        {
            "id": "MONDO:0032757",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032757",
            "categories": []
        },
        {
            "id": "MIM:618449",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618449",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SSG4-1",
            "uniprot_ac": "Q5SSG4",
            "uniprot_id": "GA2L2_MOUSE",
            "refseq_ac": "NP_001013781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GAS2-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "GAS2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 2-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gas2l2",
                    "type": "recommended"
                },
                {
                    "name": "Gas2l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SSG4-1",
            "evidence": [
                {
                    "id": "0111858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NHY3-1",
            "uniprot_ac": "Q8NHY3",
            "uniprot_id": "GA2L2_HUMAN",
            "refseq_ac": "NP_644814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GAS2-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "GAS2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GAS2-related protein on chromosome 17",
                    "type": "synonym"
                },
                {
                    "name": "Growth arrest-specific protein 2-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAS2L2",
                    "type": "recommended"
                },
                {
                    "name": "CILD41",
                    "type": "synonym"
                },
                {
                    "name": "GAR17",
                    "type": "synonym"
                },
                {
                    "name": "GAS2L2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHY3-1",
            "evidence": [
                {
                    "id": "618449",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618449"
                },
                {
                    "id": "0111858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUE1-1",
            "uniprot_ac": "D3ZUE1",
            "uniprot_id": "GA2L2_RAT",
            "refseq_ac": "NP_001099293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GAS2-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "GAS2-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gas2l2",
                    "type": "recommended"
                },
                {
                    "name": "Gas2l2",
                    "type": "synonym"
                },
                {
                    "name": "Gas2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZUE1-1",
            "evidence": [
                {
                    "id": "0111858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111858"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111858"
}