{
    "disease_id": "DOID:0060055",
    "recommended_name": {
        "id": "DOID:0060055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060055",
        "name": "popliteal pterygium syndrome",
        "description": "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."
    },
    "synonyms": [
        {
            "id": "DOID:0060055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060055",
            "name": "facio-genito-popliteal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060055",
            "name": "popliteal web syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "autosomal dominant popliteal pterygium syndrome",
            "description": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail."
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "facio-genito-popliteal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal web syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "PPS",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas-Papas syndrome 1",
            "description": "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported."
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas Papas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas-Papas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "autosomal recessive popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "lethal popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome, Bartsocas-Papas type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome, lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "BPS",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome, Bartsocas-Papas type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "pterygium popliteal lethal type",
            "description": ""
        },
        {
            "id": "MIM:119500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/119500",
            "name": "Popliteal pterygium syndrome",
            "description": "Popliteal pterygium syndrome"
        },
        {
            "id": "MIM:263650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263650",
            "name": "Bartsocas-Papas syndrome",
            "description": "Bartsocas-Papas syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060055",
            "categories": []
        },
        {
            "id": "MONDO:0007334",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "categories": []
        },
        {
            "id": "MONDO:0009901",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "categories": []
        },
        {
            "id": "MIM:119500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/119500",
            "categories": []
        },
        {
            "id": "MIM:263650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/263650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PGZ7-1",
            "uniprot_ac": "Q6PGZ7",
            "uniprot_id": "Q6PGZ7_DANRE",
            "refseq_ac": "NP_956892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "irf6",
                    "type": "recommended"
                },
                {
                    "name": "irf6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63500",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGZ7-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32U279-1",
            "uniprot_ac": "A0AB32U279",
            "uniprot_id": "A0AB32U279_DANRE",
            "refseq_ac": "XP_068079859",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 4 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ripk4",
                    "type": "recommended"
                },
                {
                    "name": "pkk",
                    "type": "synonym"
                },
                {
                    "name": "ripk4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj80b10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55705",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U279-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERK0-1",
            "uniprot_ac": "Q9ERK0",
            "uniprot_id": "RIPK4_MOUSE",
            "refseq_ac": "NP_076152",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PKC-associated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "PKC-regulated protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripk4",
                    "type": "recommended"
                },
                {
                    "name": "2310069J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "ANKK2",
                    "type": "synonym"
                },
                {
                    "name": "Ankrd3",
                    "type": "synonym"
                },
                {
                    "name": "DIk",
                    "type": "synonym"
                },
                {
                    "name": "PKK",
                    "type": "synonym"
                },
                {
                    "name": "Pkk",
                    "type": "synonym"
                },
                {
                    "name": "RIP4",
                    "type": "synonym"
                },
                {
                    "name": "Ripk4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERK0-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97431-1",
            "uniprot_ac": "P97431",
            "uniprot_id": "IRF6_MOUSE",
            "refseq_ac": "NP_058547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "type": "recommended"
                },
                {
                    "name": "E230028I05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Irf6",
                    "type": "synonym"
                },
                {
                    "name": "mirf6",
                    "type": "synonym"
                }
            ],
            "record_id": "P97431-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14896-1",
            "uniprot_ac": "O14896",
            "uniprot_id": "IRF6_HUMAN",
            "refseq_ac": "NP_001193625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "recommended"
                },
                {
                    "name": "IRF-6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRF6",
                    "type": "recommended"
                },
                {
                    "name": "IRF6",
                    "type": "synonym"
                },
                {
                    "name": "LPS",
                    "type": "synonym"
                },
                {
                    "name": "OFC6",
                    "type": "synonym"
                },
                {
                    "name": "PIT",
                    "type": "synonym"
                },
                {
                    "name": "PPS1",
                    "type": "synonym"
                },
                {
                    "name": "PPS",
                    "type": "synonym"
                },
                {
                    "name": "VWS1",
                    "type": "synonym"
                },
                {
                    "name": "VWS",
                    "type": "synonym"
                }
            ],
            "record_id": "O14896-1",
            "evidence": [
                {
                    "id": "119500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/119500"
                },
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57078-1",
            "uniprot_ac": "P57078",
            "uniprot_id": "RIPK4_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PKC-delta-interacting protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIPK4",
                    "type": "recommended"
                },
                {
                    "name": "ANKRD3",
                    "type": "synonym"
                },
                {
                    "name": "DIK",
                    "type": "synonym"
                }
            ],
            "record_id": "P57078-1",
            "evidence": [
                {
                    "id": "263650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/263650"
                },
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAV0-1",
            "uniprot_ac": "D4AAV0",
            "uniprot_id": "D4AAV0_RAT",
            "refseq_ac": "NP_001102329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon regulatory factor 6",
                    "type": "synonym"
                },
                {
                    "name": "interferon regulatory factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irf6",
                    "type": "recommended"
                },
                {
                    "name": "Irf6",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAV0-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAK5-1",
            "uniprot_ac": "D4AAK5",
            "uniprot_id": "D4AAK5_RAT",
            "refseq_ac": "NP_001100573",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripk4",
                    "type": "recommended"
                },
                {
                    "name": "Ripk4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAK5-1",
            "evidence": [
                {
                    "id": "0060055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060055"
}