loading...| Preferred Name |
inborn error of metabolism pathway |
| Synonyms |
inborn error of metabolism disease pathway |
| Definitions |
Those diseases resulting from alterations in metabolic pathways that are caused by genetic mutations present during fetal development and that may be inherited from a parent or acquired in utero. The mutations can disrupt one or several pathways, giving rise to a broad spectrum of conditions affecting many types of organs and/or tissues. |
| ID |
http://purl.obolibrary.org/obo/PW_0001589 |
| created_by |
VPetri |
| creation_date |
2015-02-09T15:21:46Z |
| definition |
Those diseases resulting from alterations in metabolic pathways that are caused by genetic mutations present during fetal development and that may be inherited from a parent or acquired in utero. The mutations can disrupt one or several pathways, giving rise to a broad spectrum of conditions affecting many types of organs and/or tissues. |
| has_exact_synonym |
inborn error of metabolism disease pathway |
| has_obo_namespace |
pathway |
| id |
PW:0001589 |
| label |
inborn error of metabolism pathway |
| notation |
PW:0001589 |
| prefLabel |
inborn error of metabolism pathway |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||