{
    "disease_id": "DOID:0060961",
    "recommended_name": {
        "id": "DOID:0060961",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060961",
        "name": "orofaciodigital syndrome XVIII",
        "description": "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Oral-facial-digital syndrome with short stature and brachymesophalangy",
            "description": ""
        },
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Oral-facial-digital syndrome type 18",
            "description": ""
        },
        {
            "id": "DOID:0060961",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "name": "Orofaciodigital syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "orofaciodigital syndrome 18",
            "description": "Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features."
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "OFD18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "Ofds 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "oral-facial-digital syndrome type 18",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "oral-facial-digital syndrome with short stature and brachymesophalangy",
            "description": ""
        },
        {
            "id": "MONDO:0054770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "name": "orofaciodigital syndrome type 18",
            "description": ""
        },
        {
            "id": "MIM:617927",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617927",
            "name": "Orofaciodigital syndrome 18",
            "description": "Orofaciodigital syndrome 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060961"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060961",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060961",
            "categories": []
        },
        {
            "id": "MONDO:0054770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054770",
            "categories": []
        },
        {
            "id": "MIM:617927",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617927",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6IVW0-1",
            "uniprot_ac": "Q6IVW0",
            "uniprot_id": "IFT57_DANRE",
            "refseq_ac": "NP_001001832",
            "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 57 homolog",
                    "type": "recommended"
                },
                {
                    "name": "axonemal transport protein",
                    "type": "synonym"
                },
                {
                    "name": "curly",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 57 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ift57",
                    "type": "recommended"
                },
                {
                    "name": "hippi",
                    "type": "synonym"
                },
                {
                    "name": "ift57",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111831",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IVW0-1",
            "evidence": [
                {
                    "id": "0060961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BXG3-1",
            "uniprot_ac": "Q8BXG3",
            "uniprot_id": "IFT57_MOUSE",
            "refseq_ac": "NP_082956",
            "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 57 homolog",
                    "type": "recommended"
                },
                {
                    "name": "HIP1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Vestrogen-related receptor beta like 1",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-related receptor beta like 1",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein-1 protein interactor",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 57 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift57",
                    "type": "recommended"
                },
                {
                    "name": "4833420A15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Esrrbl1",
                    "type": "synonym"
                },
                {
                    "name": "Hippi",
                    "type": "synonym"
                },
                {
                    "name": "Ift57",
                    "type": "synonym"
                },
                {
                    "name": "MHS4R2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXG3-1",
            "evidence": [
                {
                    "id": "0060961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWB7-1",
            "uniprot_ac": "Q9NWB7",
            "uniprot_id": "IFT57_HUMAN",
            "refseq_ac": "NP_060480",
            "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 57 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Dermal papilla-derived protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-related receptor beta-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HIP1 protein interactor",
                    "type": "synonym"
                },
                {
                    "name": "HIP1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "MHS4R2",
                    "type": "synonym"
                },
                {
                    "name": "dermal papilla-derived protein 8",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-related receptor beta like 1",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-related receptor beta-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interacting protein-1 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 57 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT57",
                    "type": "recommended"
                },
                {
                    "name": "DERP8",
                    "type": "synonym"
                },
                {
                    "name": "ESRRBL1",
                    "type": "synonym"
                },
                {
                    "name": "HIPPI",
                    "type": "synonym"
                },
                {
                    "name": "IFT57",
                    "type": "synonym"
                },
                {
                    "name": "MHS4R2",
                    "type": "synonym"
                },
                {
                    "name": "OFD18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWB7-1",
            "evidence": [
                {
                    "id": "617927",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617927"
                },
                {
                    "id": "0060961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1V1-1",
            "uniprot_ac": "D4A1V1",
            "uniprot_id": "D4A1V1_RAT",
            "refseq_ac": "NP_001100563",
            "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 57 homolog",
                    "type": "recommended"
                },
                {
                    "name": "estrogen-related receptor beta like 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 57 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift57",
                    "type": "recommended"
                },
                {
                    "name": "Esrrbl1",
                    "type": "synonym"
                },
                {
                    "name": "Ift57",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1V1-1",
            "evidence": [
                {
                    "id": "0060961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQS5-1",
            "uniprot_ac": "Q9VQS5",
            "uniprot_id": "IFT57_DROME",
            "refseq_ac": "NP_608792",
            "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 57 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8853-PA",
                    "type": "synonym"
                },
                {
                    "name": "Che-13 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "IFT57-PA",
                    "type": "synonym"
                },
                {
                    "name": "hippi",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 57",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT57",
                    "type": "recommended"
                },
                {
                    "name": "CG8853",
                    "type": "synonym"
                },
                {
                    "name": "CHE-13",
                    "type": "synonym"
                },
                {
                    "name": "Che-13",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8853",
                    "type": "synonym"
                },
                {
                    "name": "Hippi",
                    "type": "synonym"
                },
                {
                    "name": "IFT55",
                    "type": "synonym"
                },
                {
                    "name": "IFT57",
                    "type": "synonym"
                },
                {
                    "name": "che-13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQS5-1",
            "evidence": [
                {
                    "id": "0060961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060961"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060961"
}