{
    "disease_id": "DOID:0080295",
    "recommended_name": {
        "id": "DOID:0080295",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080295",
        "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0033485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "name": "SRTD19",
            "description": ""
        },
        {
            "id": "MIM:617895",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617895",
            "name": "Short-rib thoracic dysplasia 19 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 19 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080295"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080295",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080295",
            "categories": []
        },
        {
            "id": "MONDO:0033485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033485",
            "categories": []
        },
        {
            "id": "MIM:617895",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617895",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35594-1",
            "uniprot_ac": "O35594",
            "uniprot_id": "IFT81_MOUSE",
            "refseq_ac": "NP_034009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 81 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDV-1",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated gene expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 81 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 81 homolog isoform a",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 81 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift81",
                    "type": "recommended"
                },
                {
                    "name": "Cdv-1r",
                    "type": "synonym"
                },
                {
                    "name": "Cdv-1",
                    "type": "synonym"
                },
                {
                    "name": "Cdv1",
                    "type": "synonym"
                },
                {
                    "name": "Ift81",
                    "type": "synonym"
                }
            ],
            "record_id": "O35594-1",
            "evidence": [
                {
                    "id": "0080295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WYA0-1",
            "uniprot_ac": "Q8WYA0",
            "uniprot_id": "IFT81_HUMAN",
            "refseq_ac": "NP_001137251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 81 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDV-1",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated gene expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 81 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 81 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT81",
                    "type": "recommended"
                },
                {
                    "name": "CDV-1R",
                    "type": "synonym"
                },
                {
                    "name": "CDV-1",
                    "type": "synonym"
                },
                {
                    "name": "CDV1R",
                    "type": "synonym"
                },
                {
                    "name": "CDV1",
                    "type": "synonym"
                },
                {
                    "name": "DV1",
                    "type": "synonym"
                },
                {
                    "name": "IFT81",
                    "type": "synonym"
                },
                {
                    "name": "SRTD19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WYA0-1",
            "evidence": [
                {
                    "id": "617895",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617895"
                },
                {
                    "id": "0080295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080295"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83829-1",
            "uniprot_ac": "P83829",
            "uniprot_id": "IFT81_RAT",
            "refseq_ac": "NP_954551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 81 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDV-1",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated gene expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "carnitine deficiency-associated protein expressed in ventricle 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 81 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 81 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift81",
                    "type": "recommended"
                },
                {
                    "name": "Cdv-1",
                    "type": "synonym"
                },
                {
                    "name": "Cdv1",
                    "type": "synonym"
                },
                {
                    "name": "Ift81",
                    "type": "synonym"
                }
            ],
            "record_id": "P83829-1",
            "evidence": [
                {
                    "id": "0080295",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080295"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080295"
}