{
    "disease_id": "DOID:0111855",
    "recommended_name": {
        "id": "DOID:0111855",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111855",
        "name": "primary ciliary dyskinesia 42",
        "description": "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111855",
            "name": "CILD42",
            "description": ""
        },
        {
            "id": "DOID:0111855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111855",
            "name": "primary ciliary dyskinesia 42 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032872",
            "name": "ciliary dyskinesia, primary, 42",
            "description": ""
        },
        {
            "id": "MONDO:0032872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032872",
            "name": "CILD42",
            "description": ""
        },
        {
            "id": "MIM:618695",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618695",
            "name": "Ciliary dyskinesia, primary, 42",
            "description": "Ciliary dyskinesia, primary, 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111855"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111855",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111855",
            "categories": []
        },
        {
            "id": "MONDO:0032872",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032872",
            "categories": []
        },
        {
            "id": "MIM:618695",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618695",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GIT6-1",
            "uniprot_ac": "A0AC58GIT6",
            "uniprot_id": "A0AC58GIT6_DANRE",
            "refseq_ac": "XP_073769569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multicilin",
                    "type": "recommended"
                },
                {
                    "name": "Multiciliate differentiation and DNA synthesis-associated cell cycle protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Idas",
                    "type": "synonym"
                },
                {
                    "name": "multicilin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcidas",
                    "type": "recommended"
                },
                {
                    "name": "mcidasl",
                    "type": "synonym"
                },
                {
                    "name": "mcidas",
                    "type": "synonym"
                },
                {
                    "name": "mci",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GIT6-1",
            "evidence": [
                {
                    "id": "0111855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UZ45-1",
            "uniprot_ac": "Q3UZ45",
            "uniprot_id": "MCIN_MOUSE",
            "refseq_ac": "NP_001033003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multicilin",
                    "type": "recommended"
                },
                {
                    "name": "McIdas protein",
                    "type": "synonym"
                },
                {
                    "name": "Multiciliate differentiation and DNA synthesis-associated cell cycle protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Idas",
                    "type": "synonym"
                },
                {
                    "name": "multiciliate cell differentiation",
                    "type": "synonym"
                },
                {
                    "name": "multicilin",
                    "type": "synonym"
                },
                {
                    "name": "protein Idas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcidas",
                    "type": "recommended"
                },
                {
                    "name": "EG622408",
                    "type": "synonym"
                },
                {
                    "name": "Gm6320",
                    "type": "synonym"
                },
                {
                    "name": "Idas",
                    "type": "synonym"
                },
                {
                    "name": "Mcidas",
                    "type": "synonym"
                },
                {
                    "name": "Mcin",
                    "type": "synonym"
                },
                {
                    "name": "Mci",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UZ45-1",
            "evidence": [
                {
                    "id": "0111855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D6RGH6-1",
            "uniprot_ac": "D6RGH6",
            "uniprot_id": "MCIN_HUMAN",
            "refseq_ac": "NP_001177716",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multicilin",
                    "type": "recommended"
                },
                {
                    "name": "McIdas protein",
                    "type": "synonym"
                },
                {
                    "name": "Multiciliate differentiation and DNA synthesis-associated cell cycle protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Idas",
                    "type": "synonym"
                },
                {
                    "name": "multiciliate cell differentiation 1",
                    "type": "synonym"
                },
                {
                    "name": "multicilin",
                    "type": "synonym"
                },
                {
                    "name": "protein Idas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCIDAS",
                    "type": "recommended"
                },
                {
                    "name": "CILD42",
                    "type": "synonym"
                },
                {
                    "name": "IDAS",
                    "type": "synonym"
                },
                {
                    "name": "MCIDAS",
                    "type": "synonym"
                },
                {
                    "name": "MCIN",
                    "type": "synonym"
                },
                {
                    "name": "MCI",
                    "type": "synonym"
                }
            ],
            "record_id": "D6RGH6-1",
            "evidence": [
                {
                    "id": "618695",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618695"
                },
                {
                    "id": "0111855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDX9-1",
            "uniprot_ac": "D3ZDX9",
            "uniprot_id": "MCIN_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multicilin",
                    "type": "recommended"
                },
                {
                    "name": "McIdas protein",
                    "type": "synonym"
                },
                {
                    "name": "Multiciliate differentiation and DNA synthesis-associated cell cycle protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Idas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcidas",
                    "type": "recommended"
                },
                {
                    "name": "Idas",
                    "type": "synonym"
                },
                {
                    "name": "Mcin",
                    "type": "synonym"
                },
                {
                    "name": "Mci",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDX9-1",
            "evidence": [
                {
                    "id": "0111855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111855"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111855"
}