{
    "disease_id": "DOID:0080806",
    "recommended_name": {
        "id": "DOID:0080806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080806",
        "name": "cranioectodermal dysplasia 4",
        "description": "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0013719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013719",
            "name": "cranioectodermal dysplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0013719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013719",
            "name": "cranioectodermal dysplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0013719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013719",
            "name": "cranioectodermal dysplasia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013719",
            "name": "CED4",
            "description": ""
        },
        {
            "id": "MIM:614378",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614378",
            "name": "Cranioectodermal dysplasia 4",
            "description": "Cranioectodermal dysplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080806"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080806",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080806",
            "categories": []
        },
        {
            "id": "MONDO:0013719",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013719",
            "categories": []
        },
        {
            "id": "MIM:614378",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614378",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QEB4-1",
            "uniprot_ac": "A0A8M9QEB4",
            "uniprot_id": "A0A8M9QEB4_DANRE",
            "refseq_ac": "XP_021331990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 144 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr19",
                    "type": "recommended"
                },
                {
                    "name": "wdr19",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QEB4-1",
            "evidence": [
                {
                    "id": "0080806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UGF1-1",
            "uniprot_ac": "Q3UGF1",
            "uniprot_id": "WDR19_MOUSE",
            "refseq_ac": "NP_700440",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 144 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat membrane protein PWDMP",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 144 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr19",
                    "type": "recommended"
                },
                {
                    "name": "C330027H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "D330023L08Rik",
                    "type": "synonym"
                },
                {
                    "name": "DYF2",
                    "type": "synonym"
                },
                {
                    "name": "Ift144",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1638",
                    "type": "synonym"
                },
                {
                    "name": "PWDMP",
                    "type": "synonym"
                },
                {
                    "name": "Wdr19",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1638",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UGF1-1",
            "evidence": [
                {
                    "id": "0080806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEZ3-1",
            "uniprot_ac": "Q8NEZ3",
            "uniprot_id": "WDR19_HUMAN",
            "refseq_ac": "NP_001304853",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 144 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat membrane protein PWDMP",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 144 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR19",
                    "type": "recommended"
                },
                {
                    "name": "ATD5",
                    "type": "synonym"
                },
                {
                    "name": "CED4",
                    "type": "synonym"
                },
                {
                    "name": "CFAP66",
                    "type": "synonym"
                },
                {
                    "name": "DYF-2",
                    "type": "synonym"
                },
                {
                    "name": "FAP66",
                    "type": "synonym"
                },
                {
                    "name": "IFT144",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1638",
                    "type": "synonym"
                },
                {
                    "name": "NPHP13",
                    "type": "synonym"
                },
                {
                    "name": "ORF26",
                    "type": "synonym"
                },
                {
                    "name": "Oseg6",
                    "type": "synonym"
                },
                {
                    "name": "PWDMP",
                    "type": "synonym"
                },
                {
                    "name": "SPGF72",
                    "type": "synonym"
                },
                {
                    "name": "SRTD5",
                    "type": "synonym"
                },
                {
                    "name": "WDR19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEZ3-1",
            "evidence": [
                {
                    "id": "614378",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614378"
                },
                {
                    "id": "0080806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LV01-1",
            "uniprot_ac": "F1LV01",
            "uniprot_id": "F1LV01_RAT",
            "refseq_ac": "NP_001178608",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "Intraflagellar transport 144 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr19",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306997",
                    "type": "synonym"
                },
                {
                    "name": "Wdr19",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LV01-1",
            "evidence": [
                {
                    "id": "0080806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBM3-1",
            "uniprot_ac": "A1ZBM3",
            "uniprot_id": "A1ZBM3_DROME",
            "refseq_ac": "NP_611426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11237-PA",
                    "type": "synonym"
                },
                {
                    "name": "Oseg6-PA",
                    "type": "synonym"
                },
                {
                    "name": "Outer segment 6",
                    "type": "synonym"
                },
                {
                    "name": "outer segment 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oseg6",
                    "type": "recommended"
                },
                {
                    "name": "CG11237",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11237",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11237",
                    "type": "synonym"
                },
                {
                    "name": "IFT144",
                    "type": "synonym"
                },
                {
                    "name": "OSEG6",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "Oseg6",
                    "type": "synonym"
                },
                {
                    "name": "WDR19",
                    "type": "synonym"
                },
                {
                    "name": "Wdr19",
                    "type": "synonym"
                },
                {
                    "name": "oseg6",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBM3-1",
            "evidence": [
                {
                    "id": "0080806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080806"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080806"
}