| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death."xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/255110 |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D008661 |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1833508 |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#prefLabel | "Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://purl.uniprot.org/core/mnemonic | "CPT2D"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#altLabel | "Carnitine palmitoyltransferase II deficiency, myopathic"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#altLabel | "CPT II deficiency, myopathic"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#altLabel | "CPT2 deficiency, late-onset"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#altLabel | "Carnitine palmitoyltransferase II deficiency, adult-onset"xsd:string |
| http://purl.uniprot.org/diseases/1322 | http://www.w3.org/2004/02/skos/core#altLabel | "Carnitine palmitoyltransferase 2 deficiency, late-onset"xsd:string |
| http://purl.uniprot.org/uniprot/P23786#SIP14AF9EA995EFFFCE | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001391 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001392 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001393 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001396 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001397 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_001399 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007966 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007967 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007968 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007969 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007970 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |
| http://purl.uniprot.org/annotation/VAR_007971 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1322 |