{
    "disease_id": "DOID:0080803",
    "recommended_name": {
        "id": "DOID:0080803",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080803",
        "name": "cranioectodermal dysplasia 1",
        "description": "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia 1",
            "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene."
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "Sensenbrenner syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "CED1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "IFT122 cranioectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia caused by mutation in IFT122",
            "description": ""
        },
        {
            "id": "MONDO:0021093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "name": "cranioectodermal dysplasia type 1",
            "description": ""
        },
        {
            "id": "MIM:218330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218330",
            "name": "Cranioectodermal dysplasia 1",
            "description": "Cranioectodermal dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080803"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080803",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080803",
            "categories": []
        },
        {
            "id": "MONDO:0021093",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021093",
            "categories": []
        },
        {
            "id": "MIM:218330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/218330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NYH1-1",
            "uniprot_ac": "Q6NYH1",
            "uniprot_id": "IF122_DANRE",
            "refseq_ac": "NP_998055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 122 homolog",
                    "type": "recommended"
                },
                {
                    "name": "intraflagellar transport protein 122 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 122 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ift122",
                    "type": "recommended"
                },
                {
                    "name": "ift122",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77217",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NYH1-1",
            "evidence": [
                {
                    "id": "0080803",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080803"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NWV3-1",
            "uniprot_ac": "Q6NWV3",
            "uniprot_id": "IF122_MOUSE",
            "refseq_ac": "NP_001161235",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 122 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 10",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 122 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 122 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 122 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift122",
                    "type": "recommended"
                },
                {
                    "name": "Ift122",
                    "type": "synonym"
                },
                {
                    "name": "Wdr10",
                    "type": "synonym"
                },
                {
                    "name": "sopb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWV3-1",
            "evidence": [
                {
                    "id": "0080803",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080803"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HBG6-1",
            "uniprot_ac": "Q9HBG6",
            "uniprot_id": "IF122_HUMAN",
            "refseq_ac": "NP_001267470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 122 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 10",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 140",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 122 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 122 homolog isoform 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT122",
                    "type": "recommended"
                },
                {
                    "name": "CED1",
                    "type": "synonym"
                },
                {
                    "name": "CED",
                    "type": "synonym"
                },
                {
                    "name": "CFAP80",
                    "type": "synonym"
                },
                {
                    "name": "FAP80",
                    "type": "synonym"
                },
                {
                    "name": "IFT122",
                    "type": "synonym"
                },
                {
                    "name": "SPG",
                    "type": "synonym"
                },
                {
                    "name": "WDR10p",
                    "type": "synonym"
                },
                {
                    "name": "WDR10",
                    "type": "synonym"
                },
                {
                    "name": "WDR140",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HBG6-1",
            "evidence": [
                {
                    "id": "218330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/218330"
                },
                {
                    "id": "0080803",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080803"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHF1-1",
            "uniprot_ac": "A0ABK0LHF1",
            "uniprot_id": "A0ABK0LHF1_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": "Intraflagellar transport protein 122 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift122",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LHF1-1",
            "evidence": [
                {
                    "id": "0080803",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080803"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSJ6-1",
            "uniprot_ac": "Q9VSJ6",
            "uniprot_id": "Q9VSJ6_DROME",
            "refseq_ac": "NP_001286982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 122 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG7161-PB",
                    "type": "synonym"
                },
                {
                    "name": "Oseg1-PB",
                    "type": "synonym"
                },
                {
                    "name": "mechanosensory C",
                    "type": "synonym"
                },
                {
                    "name": "outer segment 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oseg1",
                    "type": "recommended"
                },
                {
                    "name": "CG7161",
                    "type": "synonym"
                },
                {
                    "name": "DAF-10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7161",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7161",
                    "type": "synonym"
                },
                {
                    "name": "IFT122",
                    "type": "synonym"
                },
                {
                    "name": "OSEG1",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "OSM-4",
                    "type": "synonym"
                },
                {
                    "name": "Oseg1",
                    "type": "synonym"
                },
                {
                    "name": "Wdr10",
                    "type": "synonym"
                },
                {
                    "name": "mecC",
                    "type": "synonym"
                },
                {
                    "name": "oseg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSJ6-1",
            "evidence": [
                {
                    "id": "0080803",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080803"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080803"
}