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 |
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| treeView | ||
| subClassOf |