{
    "disease_id": "DOID:0111854",
    "recommended_name": {
        "id": "DOID:0111854",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111854",
        "name": "primary ciliary dyskinesia 39",
        "description": "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0111854",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111854",
            "name": "CILD39",
            "description": ""
        },
        {
            "id": "DOID:0111854",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111854",
            "name": "primary ciliary dyskinesia 39 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032637",
            "name": "ciliary dyskinesia, primary, 39",
            "description": ""
        },
        {
            "id": "MONDO:0032637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032637",
            "name": "CILD39",
            "description": ""
        },
        {
            "id": "MIM:618254",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618254",
            "name": "Ciliary dyskinesia, primary, 39",
            "description": "Ciliary dyskinesia, primary, 39"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111854"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111854",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111854",
            "categories": []
        },
        {
            "id": "MONDO:0032637",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032637",
            "categories": []
        },
        {
            "id": "MIM:618254",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618254",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K375-1",
            "uniprot_ac": "Q8K375",
            "uniprot_id": "LRC56_MOUSE",
            "refseq_ac": "NP_001165535",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat-containing protein 56",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeat-containing protein 56 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrc56",
                    "type": "recommended"
                },
                {
                    "name": "5730427C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc56",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00101",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K375-1",
            "evidence": [
                {
                    "id": "0111854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYG6-1",
            "uniprot_ac": "Q8IYG6",
            "uniprot_id": "LRC56_HUMAN",
            "refseq_ac": "NP_932341",
            "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-containing protein 56",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal assembly factor 12",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 56 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRRC56",
                    "type": "recommended"
                },
                {
                    "name": "CILD39",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF12",
                    "type": "synonym"
                },
                {
                    "name": "LRRC56",
                    "type": "synonym"
                },
                {
                    "name": "oda8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYG6-1",
            "evidence": [
                {
                    "id": "618254",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618254"
                },
                {
                    "id": "0111854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8C9-1",
            "uniprot_ac": "Q4V8C9",
            "uniprot_id": "LRC56_RAT",
            "refseq_ac": "NP_001020073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat-containing protein 56",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeat-containing protein 56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrc56",
                    "type": "recommended"
                },
                {
                    "name": "Lrrc56",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311654",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8C9-1",
            "evidence": [
                {
                    "id": "0111854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW77-1",
            "uniprot_ac": "Q9VW77",
            "uniprot_id": "Q9VW77_DROME",
            "refseq_ac": "NP_649175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat-containing protein 56",
                    "type": "recommended"
                },
                {
                    "name": "CG14185-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CT33794",
                    "type": "recommended"
                },
                {
                    "name": "CG14185",
                    "type": "synonym"
                },
                {
                    "name": "CT33794",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14185",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14185",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW77-1",
            "evidence": [
                {
                    "id": "0111854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111854"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111854"
}