{
    "disease_id": "DOID:0110095",
    "recommended_name": {
        "id": "DOID:0110095",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110095",
        "name": "short-rib thoracic dysplasia 11 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110095",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110095",
            "name": "SRTD11",
            "description": ""
        },
        {
            "id": "MONDO:0014287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014287",
            "name": "short-rib thoracic dysplasia 11 with or without polydactyly",
            "description": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34."
        },
        {
            "id": "MONDO:0014287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014287",
            "name": "SRTD11",
            "description": ""
        },
        {
            "id": "MONDO:0014287",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014287",
            "name": "short-rib thoracic dysplasia 11 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:615633",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615633",
            "name": "Short-rib thoracic dysplasia 11 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 11 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110095"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110095",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110095",
            "categories": []
        },
        {
            "id": "MONDO:0014287",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014287",
            "categories": []
        },
        {
            "id": "MIM:615633",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615633",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U4F6-1",
            "uniprot_ac": "Q5U4F6",
            "uniprot_id": "DC2I2_MOUSE",
            "refseq_ac": "NP_001008498",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 34",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 34",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dync2i2",
                    "type": "recommended"
                },
                {
                    "name": "3200002I06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dync2i2",
                    "type": "synonym"
                },
                {
                    "name": "Wdr34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U4F6-1",
            "evidence": [
                {
                    "id": "0110095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EX3-1",
            "uniprot_ac": "Q96EX3",
            "uniprot_id": "DC2I2_HUMAN",
            "refseq_ac": "NP_443076",
            "glycoprotein": "no",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 34",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 34",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYNC2I2",
                    "type": "recommended"
                },
                {
                    "name": "CFAP133",
                    "type": "synonym"
                },
                {
                    "name": "DIC5",
                    "type": "synonym"
                },
                {
                    "name": "DYNC2I2",
                    "type": "synonym"
                },
                {
                    "name": "FAP133",
                    "type": "synonym"
                },
                {
                    "name": "SRTD11",
                    "type": "synonym"
                },
                {
                    "name": "WDR34",
                    "type": "synonym"
                },
                {
                    "name": "bA216B9.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EX3-1",
            "evidence": [
                {
                    "id": "615633",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615633"
                },
                {
                    "id": "0110095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2QC64-1",
            "uniprot_ac": "A0A0G2QC64",
            "uniprot_id": "A0A0G2QC64_RAT",
            "refseq_ac": "NP_001005542",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Dynein 2 intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 34",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 34",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 2 intermediate chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dync2i2",
                    "type": "recommended"
                },
                {
                    "name": "Dync2i2",
                    "type": "synonym"
                },
                {
                    "name": "Wdr34",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2QC64-1",
            "evidence": [
                {
                    "id": "0110095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110095"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110095"
}