loading...| Preferred Name |
inborn aminoacylase deficiency |
|
| Synonyms |
inborn aminoacylase activity disorder rare inborn error of aminoacylase activity inborn error of aminoacylase activity aminoacylase deficiency |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017686 |
|
| database_cross_reference |
GARD:21304 Orphanet:308448 |
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity. |
|
| disease caused by disruption of | ||
| exactMatch | ||
| has_exact_synonym |
inborn aminoacylase activity disorder rare inborn error of aminoacylase activity inborn error of aminoacylase activity |
|
| has_related_synonym |
aminoacylase deficiency |
|
| IAO_0000233 | ||
| id |
MONDO:0017686 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
inborn aminoacylase deficiency |
|
| notation |
MONDO:0017686 |
|
| prefLabel |
inborn aminoacylase deficiency |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017686 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017686 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0017686 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0017686 | DOVES | LOOM |