{"limit":20,"offset":0,"total":4,"items":[{"id":"MONDO:0017435","category":"biolink:Disease","name":"popliteal pterygium syndrome","description":"A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.","xref":["DOID:0060055","GARD:0021189","ICD9:756.89","MEDGEN:78543","MESH:C562509","NCIT:C118786","Orphanet:294963","SCTID:66783006","UMLS:C0265259","icd11.foundation:543218573"],"synonym":["PPS"],"exact_synonym":["PPS"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["disease_grouping","doid_rare","gard_rare","ncit_rare","nord_rare","ordo_group_of_disorders","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":96.18467,"matched_field":"name","match_type":"exact","highlighting":{"name":["<em>popliteal</em> <em>pterygium</em> <em>syndrome</em>"],"description":["A rare, autosomal dominant inherited <em>syndrome</em> caused by mutations in the IRF6 gene. It is"]}},{"id":"MONDO:0007334","category":"biolink:Disease","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.","xref":["GARD:0003242","MEDGEN:1844082","OMIM:119500","Orphanet:1300","SCTID:718222000","UMLS:C5848052","icd11.foundation:2069589860"],"synonym":["PPS","cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies","facio-genito-popliteal syndrome","popliteal pterygium syndrome","popliteal pterygium syndrome 1","popliteal pterygium syndrome, autosomal dominant","popliteal web syndrome"],"exact_synonym":["popliteal pterygium syndrome 1","popliteal pterygium syndrome, autosomal dominant","popliteal web syndrome"],"broad_synonym":["facio-genito-popliteal syndrome"],"narrow_synonym":null,"related_synonym":["PPS","cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies","popliteal pterygium syndrome"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","ordo_malformation_syndrome","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":80.31485,"matched_field":"related_synonym","match_type":"synonym","highlighting":{"name":["autosomal dominant <em>popliteal</em> <em>pterygium</em> <em>syndrome</em>"],"description":["Autosomal dominant <em>popliteal</em> <em>pterygium</em> <em>syndrome</em> (AD-PPS) is a rare genetic malformative disorder"],"synonym":["<em>popliteal</em> <em>pterygium</em> <em>syndrome</em>"]}},{"id":"MONDO:0009901","category":"biolink:Disease","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.","xref":["GARD:0004436","MEDGEN:337894","MESH:C564874","NCIT:C168990","OMIM:263650","Orphanet:1234","SCTID:722376008","UMLS:C1849718"],"synonym":["BPS","Bartsocas Papas syndrome","Bartsocas-Papas syndrome","autosomal recessive popliteal pterygium syndrome","lethal popliteal pterygium syndrome","popliteal pterygium syndrome lethal type","popliteal pterygium syndrome, Bartsocas-Papas type","popliteal pterygium syndrome, Bartsocas-Papas type 1","popliteal pterygium syndrome, lethal type","pterygium popliteal lethal type"],"exact_synonym":["Bartsocas Papas syndrome","Bartsocas-Papas syndrome","autosomal recessive popliteal pterygium syndrome","lethal popliteal pterygium syndrome","popliteal pterygium syndrome, Bartsocas-Papas type 1","popliteal pterygium syndrome, lethal type"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["BPS","popliteal pterygium syndrome lethal type","popliteal pterygium syndrome, Bartsocas-Papas type","pterygium popliteal lethal type"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","ordo_malformation_syndrome","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":42.068645,"matched_field":null,"match_type":null,"highlighting":{"name":["Bartsocas-Papas <em>syndrome</em> 1"],"description":["A rare, inherited, <em>popliteal</em> <em>pterygium</em> <em>syndrome</em> characterized by severe <em>popliteal</em> webbing"],"synonym":["autosomal recessive <em>popliteal</em> <em>pterygium</em> <em>syndrome</em>"]}},{"id":"MONDO:1040010","category":"biolink:Disease","name":"IRF6-related condition","description":"Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene.","xref":null,"synonym":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":10.314672,"matched_field":null,"match_type":null,"highlighting":{"description":["Van der Woude <em>syndrome</em>, <em>popliteal</em> <em>pterygium</em> <em>syndrome</em>, cleft lip with or without palate, or a"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":4}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}