{"limit":20,"offset":0,"total":1,"items":[{"id":"MONDO:0008919","category":"biolink:Disease","name":"systemic primary carnitine deficiency disease","description":"Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.","xref":["DOID:14365","GARD:0005104","ICD10CM:E71.41","ICD9:277.81","ICD9:277.82","MEDGEN:90999","MESH:C536778","NANDO:1200973","NANDO:2200508","NCIT:C98864","NORD:60","OMIM:212140","Orphanet:158","SCTID:21764004","UMLS:C0342788"],"synonym":["CARNITINE deficiency, systemic primary","CDSP","CUD","Carnitine deficiency","Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine","Carnitine plasma-membrane transporter deficiency","Carnitine transporter defect","Carnitine uptake deficiency","SPCD","carnitine transporter deficiency","carnitine uptake defect","cud","deficiency of plasma-membrane carnitine transporter","primary carnitine deficiency","renal carnitine transport defect","systemic primary carnitine deficiency disease"],"exact_synonym":["CDSP","CUD","Carnitine deficiency","Carnitine transporter defect","Carnitine uptake deficiency","SPCD","carnitine transporter deficiency","carnitine uptake defect","cud","deficiency of plasma-membrane carnitine transporter","primary carnitine deficiency","renal carnitine transport defect","systemic primary carnitine deficiency disease"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["CARNITINE deficiency, systemic primary","Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine","Carnitine plasma-membrane transporter deficiency"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","ncit_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":92.718506,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>systemic</em> <em>primary</em> <em>carnitine</em> <em>deficiency</em> disease"],"description":["<em>Systemic</em> <em>primary</em> <em>carnitine</em> <em>deficiency</em> (SPCD) is a potentially lethal disorder of fatty acid"],"synonym":["<em>CARNITINE</em> <em>deficiency</em>, <em>systemic</em> <em>primary</em>"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":1}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}