{
    "disease_id": "DOID:0110094",
    "recommended_name": {
        "id": "DOID:0110094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110094",
        "name": "short-rib thoracic dysplasia 8 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110094",
            "name": "SRPS6",
            "description": ""
        },
        {
            "id": "DOID:0110094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110094",
            "name": "SRTD8",
            "description": ""
        },
        {
            "id": "DOID:0110094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110094",
            "name": "short rib-polydactyly syndrome type VI",
            "description": ""
        },
        {
            "id": "MONDO:0014214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014214",
            "name": "short-rib thoracic dysplasia 8 with or without polydactyly",
            "description": "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36."
        },
        {
            "id": "MONDO:0014214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014214",
            "name": "SRPS6",
            "description": ""
        },
        {
            "id": "MONDO:0014214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014214",
            "name": "SRTD8",
            "description": ""
        },
        {
            "id": "MONDO:0014214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014214",
            "name": "short-rib thoracic dysplasia 8 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:615503",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615503",
            "name": "Short-rib thoracic dysplasia 8 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 8 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110094",
            "categories": []
        },
        {
            "id": "MONDO:0014214",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014214",
            "categories": []
        },
        {
            "id": "MIM:615503",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615503",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G5F0-1",
            "uniprot_ac": "A0AC58G5F0",
            "uniprot_id": "A0AC58G5F0_DANRE",
            "refseq_ac": "XP_073764942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 2 intermediate chain 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dync2i1",
                    "type": "recommended"
                },
                {
                    "name": "dync2i1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G5F0-1",
            "evidence": [
                {
                    "id": "0110094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C761-1",
            "uniprot_ac": "Q8C761",
            "uniprot_id": "DC2I1_MOUSE",
            "refseq_ac": "NP_666151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 2 intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 60",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 60",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dync2i1",
                    "type": "recommended"
                },
                {
                    "name": "D430033N04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dync2i1",
                    "type": "synonym"
                },
                {
                    "name": "Dync2l1",
                    "type": "synonym"
                },
                {
                    "name": "Wdr60",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C761-1",
            "evidence": [
                {
                    "id": "0110094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVS4-1",
            "uniprot_ac": "Q8WVS4",
            "uniprot_id": "DC2I1_HUMAN",
            "refseq_ac": "NP_060521",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 2 intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 60",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 60",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 66",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYNC2I1",
                    "type": "recommended"
                },
                {
                    "name": "CFAP163",
                    "type": "synonym"
                },
                {
                    "name": "DIC6",
                    "type": "synonym"
                },
                {
                    "name": "DYNC2I1",
                    "type": "synonym"
                },
                {
                    "name": "FAP163",
                    "type": "synonym"
                },
                {
                    "name": "SRPS6",
                    "type": "synonym"
                },
                {
                    "name": "SRTD8",
                    "type": "synonym"
                },
                {
                    "name": "WDR60",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVS4-1",
            "evidence": [
                {
                    "id": "615503",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615503"
                },
                {
                    "id": "0110094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5YCM7-1",
            "uniprot_ac": "A0A8I5YCM7",
            "uniprot_id": "A0A8I5YCM7_RAT",
            "refseq_ac": "NP_001178702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 2 intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 60",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 60",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dync2i1",
                    "type": "recommended"
                },
                {
                    "name": "Dync2i1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306493",
                    "type": "synonym"
                },
                {
                    "name": "Wdr60",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5YCM7-1",
            "evidence": [
                {
                    "id": "0110094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110094"
}