{
    "disease_id": "DOID:0080289",
    "recommended_name": {
        "id": "DOID:0080289",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080289",
        "name": "orofaciodigital syndrome XVII",
        "description": "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28."
    },
    "synonyms": [
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "orofaciodigital syndrome 17",
            "description": "An orofaciodigital syndrome caused by a mutation in the INTU gene."
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "OFD17",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "OFDS XVII",
            "description": ""
        },
        {
            "id": "MONDO:0033375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "name": "oral-facial-digital syndrome, type XVII",
            "description": ""
        },
        {
            "id": "MIM:617926",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617926",
            "name": "Orofaciodigital syndrome 17",
            "description": "Orofaciodigital syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080289"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080289",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080289",
            "categories": []
        },
        {
            "id": "MONDO:0033375",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033375",
            "categories": []
        },
        {
            "id": "MIM:617926",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617926",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FCN8-1",
            "uniprot_ac": "E7FCN8",
            "uniprot_id": "INTU_DANRE",
            "refseq_ac": "XP_068078231",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein inturned",
                    "type": "recommended"
                },
                {
                    "name": "Inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein inturned isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "intu",
                    "type": "recommended"
                },
                {
                    "name": "intu",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCN8-1",
            "evidence": [
                {
                    "id": "0080289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q059U7-1",
            "uniprot_ac": "Q059U7",
            "uniprot_id": "INTU_MOUSE",
            "refseq_ac": "NP_780724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein inturned",
                    "type": "recommended"
                },
                {
                    "name": "Inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein inturned isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein inturned",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Intu",
                    "type": "recommended"
                },
                {
                    "name": "9230116I04Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430087H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Intu",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1284",
                    "type": "synonym"
                },
                {
                    "name": "Pdzd6",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1284",
                    "type": "synonym"
                }
            ],
            "record_id": "Q059U7-1",
            "evidence": [
                {
                    "id": "0080289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULD6-1",
            "uniprot_ac": "Q9ULD6",
            "uniprot_id": "INTU_HUMAN",
            "refseq_ac": "NP_056508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein inturned",
                    "type": "recommended"
                },
                {
                    "name": "Inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 4",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein inturned",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INTU",
                    "type": "recommended"
                },
                {
                    "name": "CPLANE4",
                    "type": "synonym"
                },
                {
                    "name": "INTU",
                    "type": "synonym"
                },
                {
                    "name": "INT",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1284",
                    "type": "synonym"
                },
                {
                    "name": "OFD17",
                    "type": "synonym"
                },
                {
                    "name": "PDZD6",
                    "type": "synonym"
                },
                {
                    "name": "PDZK6",
                    "type": "synonym"
                },
                {
                    "name": "SRTD20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULD6-1",
            "evidence": [
                {
                    "id": "617926",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617926"
                },
                {
                    "id": "0080289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACE5-1",
            "uniprot_ac": "D4ACE5",
            "uniprot_id": "INTU_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": "Protein inturned",
                    "type": "recommended"
                },
                {
                    "name": "Inturned planar cell polarity effector homolog",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Intu",
                    "type": "recommended"
                },
                {
                    "name": "Pdzd6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACE5-1",
            "evidence": [
                {
                    "id": "0080289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPH0-1",
            "uniprot_ac": "Q9VPH0",
            "uniprot_id": "INTU_DROME",
            "refseq_ac": "NP_788548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein inturned",
                    "type": "recommended"
                },
                {
                    "name": "CG16993-PA",
                    "type": "synonym"
                },
                {
                    "name": "in-PA",
                    "type": "synonym"
                },
                {
                    "name": "inturned",
                    "type": "synonym"
                },
                {
                    "name": "intwined",
                    "type": "synonym"
                },
                {
                    "name": "transcript B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "in",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG16993",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16993",
                    "type": "synonym"
                },
                {
                    "name": "In",
                    "type": "synonym"
                },
                {
                    "name": "in",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPH0-1",
            "evidence": [
                {
                    "id": "0080289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080289"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080289"
}