loading...| Preferred Name |
先天性代谢缺陷 / Inborn errors of metabolism |
| Definitions |
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/L2-5C5 |
| broadMatch | |
| definition |
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). |
| exclusions |
Disorders of lipoprotein metabolism or certain specified lipidaemias (BlockL2‑5C8) |
| hasDbXref | |
| label |
先天性代谢缺陷 / Inborn errors of metabolism |
| notation |
L2-5C5 |
| prefixIRI |
ICD11CN:L2-5C5 |
| prefLabel |
先天性代谢缺陷 / Inborn errors of metabolism |
| translation | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_655 | Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) | LOOM |