{"limit":20,"offset":0,"total":5,"items":[{"id":"MONDO:0011705","category":"biolink:Disease","name":"lymphangioleiomyomatosis","description":"A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.","xref":["GARD:0024820","ICD10CM:J84.81","ICDO:9174/1","MEDGEN:148366","MESH:D018192","NANDO:1200430","NCIT:C3725","OMIM:606690","UMLS:C0751674","icd11.foundation:902628446"],"synonym":["LAM","lung lymphangioleiomyomatosis","lymphangio-myomatosis","lymphangioleiomyomatosis","lymphangioleiomyomatosis, somatic","lymphangiomyomatosis","pulmonary lymphangioleiomyomatosis"],"exact_synonym":["lymphangioleiomyomatosis","lymphangioleiomyomatosis, somatic","lymphangiomyomatosis"],"broad_synonym":null,"narrow_synonym":["lung lymphangioleiomyomatosis","pulmonary lymphangioleiomyomatosis"],"related_synonym":["LAM","lymphangio-myomatosis"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_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":57.26648,"matched_field":"name","match_type":"exact","highlighting":{"synonym":["<em>lymphangioleiomyomatosis</em>","lung <em>lymphangioleiomyomatosis</em>"],"name":["<em>lymphangioleiomyomatosis</em>"]}},{"id":"MONDO:0006277","category":"biolink:Disease","name":"lung lymphangioleiomyomatosis","description":"Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.","xref":["DOID:3319","EFO:1000334","GARD:0003319","ICD9:518.89","MEDGEN:91161","MedDRA:10049459","NCIT:C38153","ONCOTREE:LAM","Orphanet:538","SCTID:277844007","UMLS:C0349649"],"synonym":["lung lymphangioleiomyomatosis","lung lymphangiomyomatosis","lymphangioleiomyomatosis","pulmonary lymphangiomyomatosis"],"exact_synonym":["lung lymphangioleiomyomatosis","lung lymphangiomyomatosis"],"broad_synonym":["lymphangioleiomyomatosis"],"narrow_synonym":null,"related_synonym":["pulmonary lymphangiomyomatosis"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["doid_rare","gard_rare","ordo_disorder","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":50.98843,"matched_field":"broad_synonym","match_type":"synonym","highlighting":{"synonym":["<em>lymphangioleiomyomatosis</em>","lung <em>lymphangioleiomyomatosis</em>"],"name":["lung <em>lymphangioleiomyomatosis</em>"]}},{"id":"MONDO:0006359","category":"biolink:Disease","name":"neoplasm with perivascular epithelioid cell differentiation","description":"A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.","xref":["DOID:2643","EFO:1000464","GARD:0022383","MEDGEN:266246","MESH:D054973","NCIT:C38150","ONCOTREE:PECOMA","Orphanet:595133","UMLS:C1300127"],"synonym":["PEComa","neoplasm with perivascular epithelioid cell differentiation","perivascular epithelioid cell neoplasm","perivascular epithelioid cell tumour","tumor with perivascular epithelioid cell differentiation","tumour with perivascular epithelioid cell differentiation"],"exact_synonym":["PEComa","neoplasm with perivascular epithelioid cell differentiation","perivascular epithelioid cell neoplasm","perivascular epithelioid cell tumour","tumor with perivascular epithelioid cell differentiation","tumour with perivascular epithelioid cell differentiation"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","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":6.09273,"matched_field":null,"match_type":null,"highlighting":{"description":[" angiomyolipoma, clear cell-sugar-tumor of the lung, and <em>lymphangioleiomyomatosis</em>."]}},{"id":"MONDO:0002607","category":"biolink:Disease","name":"obsolete lymphangioleiomyomatosis","description":null,"xref":null,"synonym":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":true,"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":5.098843,"matched_field":null,"match_type":null,"highlighting":{"name":["obsolete <em>lymphangioleiomyomatosis</em>"]}},{"id":"MONDO:0010856","category":"biolink:Disease","name":"autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","description":"Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).","xref":["GARD:0009481","MEDGEN:325000","MESH:C536328","OMIM:600273","Orphanet:88924","SCTID:765331004","UMLS:C1838327","icd11.foundation:1781576728"],"synonym":["PKDTS","polycystic kidney disease, infantile severe, with tuberous sclerosis","polycystic kidneys, severe infantile with tuberous sclerosis","tuberous sclerosis polycystic kidney disease contiguous gene syndrome","tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"],"exact_synonym":["tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["PKDTS","polycystic kidney disease, infantile severe, with tuberous sclerosis","polycystic kidneys, severe infantile with tuberous sclerosis","tuberous sclerosis polycystic kidney disease contiguous gene syndrome"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","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":4.6933627,"matched_field":null,"match_type":null,"highlighting":{"description":[" angiomyolipomas, <em>lymphangioleiomyomatosis</em> and periventricular calcifications of the central nervous system)."]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":5}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}