{
    "disease_id": "DOID:0080805",
    "recommended_name": {
        "id": "DOID:0080805",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080805",
        "name": "cranioectodermal dysplasia 3",
        "description": "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "cranioectodermal dysplasia 3",
            "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene."
        },
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "Cranioectodermal dysplasia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "IFT43 cranioectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "cranioectodermal dysplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "cranioectodermal dysplasia caused by mutation in IFT43",
            "description": ""
        },
        {
            "id": "MONDO:0013573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "name": "CED3",
            "description": ""
        },
        {
            "id": "MIM:614099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614099",
            "name": "Cranioectodermal dysplasia 3",
            "description": "Cranioectodermal dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080805"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080805",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080805",
            "categories": []
        },
        {
            "id": "MONDO:0013573",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013573",
            "categories": []
        },
        {
            "id": "MIM:614099",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DA69-1",
            "uniprot_ac": "Q9DA69",
            "uniprot_id": "IFT43_MOUSE",
            "refseq_ac": "NP_001186772",
            "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 43 homolog",
                    "type": "recommended"
                },
                {
                    "name": "intraflagellar transport 43 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 43 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 43 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift43",
                    "type": "recommended"
                },
                {
                    "name": "1700019E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ift43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DA69-1",
            "evidence": [
                {
                    "id": "0080805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FT9-1",
            "uniprot_ac": "Q96FT9",
            "uniprot_id": "IFT43_HUMAN",
            "refseq_ac": "NP_001096034",
            "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 43 homolog",
                    "type": "recommended"
                },
                {
                    "name": "IFT complex A subunit",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 43 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 43 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 43 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT43",
                    "type": "recommended"
                },
                {
                    "name": "C14orf179",
                    "type": "synonym"
                },
                {
                    "name": "CED3",
                    "type": "synonym"
                },
                {
                    "name": "IFT43",
                    "type": "synonym"
                },
                {
                    "name": "RP81",
                    "type": "synonym"
                },
                {
                    "name": "SRTD18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FT9-1",
            "evidence": [
                {
                    "id": "614099",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614099"
                },
                {
                    "id": "0080805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZRK4-1",
            "uniprot_ac": "A0A8I5ZRK4",
            "uniprot_id": "A0A8I5ZRK4_RAT",
            "refseq_ac": "XP_006240432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport 43",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 43 homolog isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift43",
                    "type": "recommended"
                },
                {
                    "name": "Ift43",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307392",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZRK4-1",
            "evidence": [
                {
                    "id": "0080805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK67-1",
            "uniprot_ac": "Q9VK67",
            "uniprot_id": "Q9VK67_DROME",
            "refseq_ac": "NP_609581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5780-PB",
                    "type": "synonym"
                },
                {
                    "name": "IFT43-PB",
                    "type": "synonym"
                },
                {
                    "name": "Intraflagellar transport 43",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT43",
                    "type": "recommended"
                },
                {
                    "name": "CG5780",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5780",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5780",
                    "type": "synonym"
                },
                {
                    "name": "IFT43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK67-1",
            "evidence": [
                {
                    "id": "0080805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080805"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080805"
}