{"limit":20,"offset":0,"total":4,"items":[{"id":"MONDO:0009717","category":"biolink:Disease","name":"Schwartz-Jampel syndrome","description":"A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).","xref":["GARD:0000250","ICD10CM:G71.13","ICD9:759.89","MEDGEN:19892","NANDO:1200224","NANDO:2100235","NANDO:2200876","NCIT:C35008","NORD:1697","Orphanet:800","SCTID:29145002","UMLS:C0036391","icd11.foundation:1725668060"],"synonym":["Aberfeld syndrome","Catel-Hempel syndrome","Catel-Hempel type dysostosis enchondralis metaepiphysaria","Osteochondromuscular dystrophy","SJS","Schwartz Jampel Aberfeld syndrome","Schwartz Jampel Syndrome","Schwartz Jampel syndrome","Schwartz-Jampel syndrome","Schwartz-Jampel-Aberfeld syndrome","burton skeletal dysplasia","burton syndrome","dysostosis enchondralis metaepiphysaria, Catel-Hempel type","myotonic chondrodystrophy","myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities","myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","osteochondromuscular dystrophy"],"exact_synonym":["Aberfeld syndrome","Catel-Hempel syndrome","Catel-Hempel type dysostosis enchondralis metaepiphysaria","Osteochondromuscular dystrophy","SJS","Schwartz Jampel Syndrome","Schwartz-Jampel syndrome","Schwartz-Jampel-Aberfeld syndrome","burton skeletal dysplasia","burton syndrome","dysostosis enchondralis metaepiphysaria, Catel-Hempel type","myotonic chondrodystrophy","myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","osteochondromuscular dystrophy"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["Schwartz Jampel Aberfeld syndrome","Schwartz Jampel 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long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.","xref":["GARD:0005045","MEDGEN:1803541","MESH:C537502","OMIM:601559","Orphanet:3206","SCTID:254097005","UMLS:C5676888"],"synonym":["SJS2","STUVE-Wiedemann syndrome","STWS","SWS","Schwartz-Jampel syndrome neonatal","Schwartz-Jampel syndrome type 2","Schwartz-Jampel syndrome, neonatal","Stuve-Wiedemann syndrome","Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome","Stws","Stüve-Wiedemann dysplasia","Stüve-Wiedemann syndrome","Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome","neonatal Schwartz-Jampel syndrome","neonatal Schwartz-Jampel syndrome type 2"],"exact_synonym":["SJS2","STWS","Schwartz-Jampel syndrome neonatal","Schwartz-Jampel syndrome type 2","Schwartz-Jampel syndrome, neonatal","Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome","Stüve-Wiedemann dysplasia","Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome","neonatal Schwartz-Jampel syndrome"],"broad_synonym":["STUVE-Wiedemann syndrome","SWS","Stuve-Wiedemann syndrome","Stws","Stüve-Wiedemann syndrome"],"narrow_synonym":null,"related_synonym":["neonatal Schwartz-Jampel syndrome type 2"],"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","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":31.040827,"matched_field":null,"match_type":null,"highlighting":{"name":["Stüve-Wiedemann <em>syndrome</em> 1"],"synonym":["<em>Schwartz</em>-<em>Jampel</em> <em>syndrome</em> neonatal"]}},{"id":"MONDO:0008881","category":"biolink:Disease","name":"kyphomelic dysplasia","description":"Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.","xref":["DOID:0061155","GARD:0010149","ICD9:733.29","MEDGEN:140930","MESH:C538128","OMIM:211350","Orphanet:1801","SCTID:254096001","UMLS:C0432239","icd11.foundation:268821879"],"synonym":["congenital bowing with short bones","kyphomelic dysplasia"],"exact_synonym":["kyphomelic dysplasia"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["congenital bowing with short bones"],"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":6.288487,"matched_field":null,"match_type":null,"highlighting":{"description":[" <em>Schwartz</em>-<em>Jampel</em> <em>syndrome</em>."]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":4}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}