{
    "disease_id": "DOID:0060316",
    "recommended_name": {
        "id": "DOID:0060316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060316",
        "name": "orofaciodigital syndrome I",
        "description": "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease."
    },
    "synonyms": [
        {
            "id": "DOID:0060316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060316",
            "name": "Papillon-Leage-Psaume syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060316",
            "name": "orofaciodigital syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0060316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060316",
            "name": "orofaciodigital syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome I",
            "description": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "OFD syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "OFD1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "OFDI",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "OFDS 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "OFDSI",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "Papillon-Leage and Psaume syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "Papillon-Lage-Psaume syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "Papillon-league-Psaume syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "oral facial digital syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "oral facial digital syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "oral-facial-digital syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "oral-facial-digital syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "oral-facial-digital syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome I",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome i, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "name": "orofaciodigital syndrome type I",
            "description": ""
        },
        {
            "id": "MIM:311200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311200",
            "name": "Orofaciodigital syndrome 1",
            "description": "Orofaciodigital syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060316"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060316",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060316",
            "categories": []
        },
        {
            "id": "MONDO:0010702",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010702",
            "categories": []
        },
        {
            "id": "MIM:311200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/311200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZK7-1",
            "uniprot_ac": "Q7SZK7",
            "uniprot_id": "OFD1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ofd1",
                    "type": "recommended"
                },
                {
                    "name": "wu:fa07a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd17e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92562",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZK7-1",
            "evidence": [
                {
                    "id": "0060316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z25-1",
            "uniprot_ac": "Q80Z25",
            "uniprot_id": "OFD1_MOUSE",
            "refseq_ac": "NP_803178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Cxorf5",
                    "type": "synonym"
                },
                {
                    "name": "DXGgc7e",
                    "type": "synonym"
                },
                {
                    "name": "ORF2",
                    "type": "synonym"
                },
                {
                    "name": "Ofd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z25-1",
            "evidence": [
                {
                    "id": "0060316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75665-1",
            "uniprot_ac": "O75665",
            "uniprot_id": "OFD1_HUMAN",
            "refseq_ac": "NP_001317138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Joubert syndrome type 10",
                    "type": "synonym"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein 71-7A",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein 71-7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OFD1",
                    "type": "recommended"
                },
                {
                    "name": "71-7A",
                    "type": "synonym"
                },
                {
                    "name": "CXorf5",
                    "type": "synonym"
                },
                {
                    "name": "JBTS10",
                    "type": "synonym"
                },
                {
                    "name": "OFD1",
                    "type": "synonym"
                },
                {
                    "name": "RP23",
                    "type": "synonym"
                },
                {
                    "name": "SGBS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75665-1",
            "evidence": [
                {
                    "id": "311200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/311200"
                },
                {
                    "id": "0060316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUD5-1",
            "uniprot_ac": "D3ZUD5",
            "uniprot_id": "D3ZUD5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ofd1 centriole and centriolar satellite protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUD5-1",
            "evidence": [
                {
                    "id": "0060316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060316"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060316"
}