Preferred Name |
Dihydropyrimidinase deficiency |
|
Synonyms |
|
|
Definitions |
(DHPD): A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. |
|
ID |
http://purl.obolibrary.org/obo/OMIM_222748 |
|
definition |
(DHPD): A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. |
|
has_obo_namespace |
cell_cycle_ontology |
|
id |
OMIM:222748 |
|
label |
Dihydropyrimidinase deficiency |
|
notation |
OMIM:222748 |
|
prefLabel |
Dihydropyrimidinase deficiency |
|
treeView | ||
subClassOf |
Create mapping