{"_id":"MONDO:0008919","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"33817-20-8","chemical_name":"Pivampicillin","direct_evidence":"marker/mechanism","mesh_chemical_id":"D010917","pubmed":"1494519","source":"CTD"},{"cas_registry_number":"99-66-1","chemical_name":"Valproic Acid","direct_evidence":"marker/mechanism","mesh_chemical_id":"D014635","pubmed":["2858698","6819143"],"source":"CTD"}],"mesh":"C536778","pathway_related_to_disease":[{"inference_gene_symbol":"SLC22A5","kegg_pathway_id":"hsa05231","pathway_name":"Choline metabolism in cancer","source":"CTD"},{"inference_gene_symbol":"SLC22A5","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"SLC22A5","pathway_name":"Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds","react_pathway_id":"R-HSA-425366","source":"CTD"},{"inference_gene_symbol":"SLC22A5","pathway_name":"SLC-mediated transmembrane transport","react_pathway_id":"R-HSA-425407","source":"CTD"},{"inference_gene_symbol":"SLC22A5","pathway_name":"Organic cation transport","react_pathway_id":"R-HSA-549127","source":"CTD"},{"inference_gene_symbol":"SLC22A5","pathway_name":"Organic cation/anion/zwitterion transport","react_pathway_id":"R-HSA-549132","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0014667","DOID:630","DOID:4","DOID:655","DOID:9252"],"children":[],"def":"\"An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.\" [url:http\\://en.wikipedia.org/wiki/Carnitine_deficiency]","descendants":[],"doid":"DOID:14365","name":"systemic primary carnitine deficiency disease","parents":["DOID:9252"],"synonyms":{"exact":["carnitine transporter deficiency","carnitine uptake defect","deficiency of plasma-membrane carnitine transporter","primary carnitine deficiency","renal carnitine transport defect"]},"xrefs":{"icd10":"E71.41","icd9":"277.81","mesh":"C536778","mim":"212140","ncit":"C98864","snomedct_us_2025_09_01":"21764004","umls_cui":"C0342788"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":5,"hpo_id":"HP:0011463","hpo_name":"Childhood onset","numeric_freq":1.0,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},"disease_name":"Carnitine deficiency, systemic primary","inheritance":{"biocuration":[{"date":"2015-12-23","name":"HPO:probinson"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","original_disease_id":"OMIM:212140","pmid_refs":"PMID:9916797"},"omim":"212140","phenotype_related_to_disease":[{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001254","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001298","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0003236","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":[{"date":"2015-12-23","name":"HPO:skoehler"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":5,"hpo_id":"HP:0003234","numeric_freq":1.0,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0003198","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001252","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":[{"date":"2015-12-23","name":"HPO:iea"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0002240","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001290","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0031964","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001508","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001706","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0030362","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":[{"date":"2015-12-23","name":"HPO:skoehler"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0001988","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":2,"hpo_id":"HP:0001944","numeric_freq":0.4,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001987","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":[{"date":"2015-12-23","name":"HPO:skoehler"},{"date":"2024-03-08","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001946","original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0003701","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":[{"date":"2015-12-23","name":"HPO:iea"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":15,"freq_numerator":11,"hpo_id":"HP:0001324","numeric_freq":0.7333333333333333,"omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":[{"date":"2022-10-09","name":"HPO:probinson"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0002014","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0045061","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0031956","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001289","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002013","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001640","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0002098","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0001263","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001262","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001639","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001635","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":{"date":"2015-12-23","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0005959","omim_refs":"OMIM:212140","original_disease_id":"OMIM:212140"},{"biocuration":[{"date":"2022-10-09","name":"HPO:probinson"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":2,"hpo_id":"HP:0001638","numeric_freq":0.4,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0001653","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":{"date":"2022-10-09","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0001414","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":[{"date":"2015-12-23","name":"HPO:skoehler"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":1,"hpo_id":"HP:0003215","numeric_freq":0.2,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"},{"biocuration":[{"date":"2015-12-23","name":"HPO:iea"},{"date":"2022-10-09","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":5,"freq_numerator":2,"hpo_id":"HP:0001259","numeric_freq":0.4,"original_disease_id":"OMIM:212140","pmid_refs":"PMID:11715001"}]},{"disease_name":"Systemic primary carnitine deficiency","orphanet":"158","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000467","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001289","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001324","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002013","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002240","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002312","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002910","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0006846","orphanet_refs":"orphanet:158"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007334","orphanet_refs":"orphanet:158"}]}],"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:7770007","MONDO:0019189","MONDO:0019052","MONDO:7770008","MONDO:0005066","MONDO:0017713","MONDO:0037858","MONDO:0019243","MONDO:0019223","MONDO:0700096","MONDO:0037871","MONDO:0003847","MONDO:0002525","MONDO:0017716","MONDO:0004736"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0008919"]},"definition":"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. [Orphanet:158]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/10969"]},"label":"systemic primary carnitine deficiency disease","mondo":"MONDO:0008919","parents":["MONDO:0004736","MONDO:0017713","MONDO:0017716"],"synonym":{"exact":["Carnitine deficiency","Carnitine transporter defect","carnitine transporter deficiency","carnitine uptake defect","Carnitine uptake deficiency","CDSP","CUD","cud","deficiency of plasma-membrane carnitine transporter","primary carnitine deficiency","renal carnitine transport defect","SPCD","systemic primary carnitine deficiency disease"],"related":["CARNITINE deficiency, systemic primary","Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine","Carnitine plasma-membrane transporter deficiency"]},"xrefs":{"doid":["DOID:14365"],"gard":["0005104"],"icd10cm":["E71.41"],"icd9":["277.82","277.81"],"medgen":["90999"],"mesh":["C536778"],"nando":["1200973","2200508"],"ncit":["C98864"],"nord":["60"],"omim":["212140"],"orphanet":["158"],"sctid":["21764004"],"umls":["C0342788"]}},"original_id":"orphanet:158","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"non-preferred":"E71.41"},"icd9cm":{"non-preferred":"277.81"},"mesh":{"non-preferred":"C536778","preferred":"C536778"},"nci":{"non-preferred":"C98864"},"snomed":{"non-preferred":"21764004","preferred":"21764004"},"umls":"C0342788"}}