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spotty pigmentation - endocrine overactivity"],"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":355.81415,"matched_field":"name","match_type":"exact","highlighting":{"name":["<em>Carney</em> <em>complex</em>"],"description":["<em>Carney</em> <em>complex</em> (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and"],"synonym":["<em>Carney</em> <em>Complex</em>, type 1"]}},{"id":"MONDO:0011525","category":"biolink:Disease","name":"Carney complex type 2","description":null,"xref":["GARD:0015377","MEDGEN:340253","OMIM:605244","UMLS:C1854540"],"synonym":["CNC2","Carney Myxoma-endocrine Complex, type 2","Carney complex, type 2","Carney complex, type II"],"exact_synonym":["CNC2","Carney Myxoma-endocrine Complex, type 2","Carney complex, type 2","Carney complex, type II"],"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","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":58.36572,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Carney</em> <em>complex</em> type 2"],"synonym":["<em>Carney</em> Myxoma-endocrine <em>Complex</em>, type 2"]}},{"id":"MONDO:0008057","category":"biolink:Disease","name":"Carney complex, type 1","description":"Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.","xref":["GARD:0015090","MEDGEN:388559","OMIM:160980","UMLS:C2607929"],"synonym":["CNC1","Carney complex caused by mutation in PRKAR1A","Carney complex, type 1","PRKAR1A Carney complex"],"exact_synonym":["Carney complex caused by mutation in PRKAR1A","Carney complex, type 1","PRKAR1A Carney complex"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["CNC1"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_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":58.36572,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Carney</em> <em>complex</em>, type 1"],"description":["Any <em>Carney</em> <em>complex</em> in which the cause of the disease is a mutation in the PRKAR1A gene."],"synonym":["<em>Carney</em> <em>complex</em> caused by mutation in PRKAR1A"]}},{"id":"MONDO:0012137","category":"biolink:Disease","name":"Carney complex - trismus - pseudocamptodactyly syndrome","description":"Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).","xref":["GARD:0017448","MEDGEN:332400","OMIM:608837","Orphanet:319340","UMLS:C1837245"],"synonym":["Carney complex variant"],"exact_synonym":["Carney complex variant"],"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":53.550747,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>Carney</em> <em>complex</em> - trismus - pseudocamptodactyly syndrome"],"description":["<em>Carney</em> <em>complex</em>-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome"],"synonym":["<em>Carney</em> <em>complex</em> variant"]}},{"id":"MONDO:0002558","category":"biolink:Disease","name":"melanotic neurilemmoma","description":"A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.","xref":["DOID:3205","GARD:0023167","ICD9:215.8","MEDGEN:266292","NCIT:C6970","ONCOTREE:MSCHW","SCTID:404024000","UMLS:C1306247"],"synonym":["MSCHW","melanocytic neurilemmoma","melanocytic schwannoma","melanotic neurinoma","melanotic schwannoma","melanotic schwannoma (morphologic abnormality)","pigmented neurilemmoma","pigmented schwannoma"],"exact_synonym":["melanocytic neurilemmoma","melanocytic schwannoma","melanotic neurinoma","melanotic schwannoma","melanotic schwannoma (morphologic abnormality)","pigmented neurilemmoma","pigmented schwannoma"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["MSCHW"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_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":3.7035666,"matched_field":null,"match_type":null,"highlighting":{"description":[" other locations. It may be associated with PRKAR1A gene mutation and <em>Carney</em> <em>complex</em>. Malignant behavior"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":5}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}