{
    "disease_id": "DOID:0080804",
    "recommended_name": {
        "id": "DOID:0080804",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080804",
        "name": "cranioectodermal dysplasia 2",
        "description": "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "cranioectodermal dysplasia 2",
            "description": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene."
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "Cranioectodermal dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "WDR35 cranioectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "WDR35-related cranioectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "cranioectodermal dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "cranioectodermal dysplasia caused by mutation in WDR35",
            "description": ""
        },
        {
            "id": "MONDO:0013323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "name": "CED2",
            "description": ""
        },
        {
            "id": "MIM:613610",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613610",
            "name": "Cranioectodermal dysplasia 2",
            "description": "Cranioectodermal dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080804"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080804",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080804",
            "categories": []
        },
        {
            "id": "MONDO:0013323",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013323",
            "categories": []
        },
        {
            "id": "MIM:613610",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613610",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q9T9-1",
            "uniprot_ac": "A0A8M9Q9T9",
            "uniprot_id": "A0A8M9Q9T9_DANRE",
            "refseq_ac": "XP_021336298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 35 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr35",
                    "type": "recommended"
                },
                {
                    "name": "im:7159945",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-206k20.4",
                    "type": "synonym"
                },
                {
                    "name": "wdr35",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q9T9-1",
            "evidence": [
                {
                    "id": "0080804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BND3-1",
            "uniprot_ac": "Q8BND3",
            "uniprot_id": "WDR35_MOUSE",
            "refseq_ac": "NP_001152999",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 35 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr35",
                    "type": "recommended"
                },
                {
                    "name": "4930459M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "4931430C06",
                    "type": "synonym"
                },
                {
                    "name": "Wdr35",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1336",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BND3-1",
            "evidence": [
                {
                    "id": "0080804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2L0-1",
            "uniprot_ac": "Q9P2L0",
            "uniprot_id": "WDR35_HUMAN",
            "refseq_ac": "NP_001006658",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport protein 121 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 35 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 121 homolog",
                    "type": "synonym"
                },
                {
                    "name": "naofen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR35",
                    "type": "recommended"
                },
                {
                    "name": "CED2",
                    "type": "synonym"
                },
                {
                    "name": "CFAP118",
                    "type": "synonym"
                },
                {
                    "name": "FAP118",
                    "type": "synonym"
                },
                {
                    "name": "IFT121",
                    "type": "synonym"
                },
                {
                    "name": "IFTA1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1336",
                    "type": "synonym"
                },
                {
                    "name": "SRTD7",
                    "type": "synonym"
                },
                {
                    "name": "WDR35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2L0-1",
            "evidence": [
                {
                    "id": "613610",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613610"
                },
                {
                    "id": "0080804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6N6J5-1",
            "uniprot_ac": "A6N6J5",
            "uniprot_id": "WDR35_RAT",
            "refseq_ac": "NP_001092810",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "recommended"
                },
                {
                    "name": "Naofen",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "synonym"
                },
                {
                    "name": "naofen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr35",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564116",
                    "type": "synonym"
                },
                {
                    "name": "Wdr35",
                    "type": "synonym"
                }
            ],
            "record_id": "A6N6J5-1",
            "evidence": [
                {
                    "id": "0080804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W097-1",
            "uniprot_ac": "Q9W097",
            "uniprot_id": "Q9W097_DROME",
            "refseq_ac": "NP_001261278",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 35",
                    "type": "recommended"
                },
                {
                    "name": "CG2069-PB",
                    "type": "synonym"
                },
                {
                    "name": "Oseg4-PB",
                    "type": "synonym"
                },
                {
                    "name": "outer segment 4, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oseg4",
                    "type": "recommended"
                },
                {
                    "name": "CG2069",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2069",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2069",
                    "type": "synonym"
                },
                {
                    "name": "IFT121",
                    "type": "synonym"
                },
                {
                    "name": "OSEG4",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "Oseg4",
                    "type": "synonym"
                },
                {
                    "name": "WDR35",
                    "type": "synonym"
                },
                {
                    "name": "Wdr35",
                    "type": "synonym"
                },
                {
                    "name": "cytC40",
                    "type": "synonym"
                },
                {
                    "name": "oseg4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W097-1",
            "evidence": [
                {
                    "id": "0080804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080804"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080804"
}