Link to this page
Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
Jump to:
| Preferred Name | GTP Cyclohydrolase I Deficiency | |
| Synonyms |
|
|
| Definitions |
An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C141442 |
|
| code |
C141442
|
|
| Contributing_Source |
Cellosaurus
|
|
| definition |
An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.
|
|
| in_subset | ||
| label |
GTP Cyclohydrolase I Deficiency
|
|
| Preferred_Name |
GTP Cyclohydrolase I Deficiency
|
|
| prefixIRI |
NCIT:C141442
|
|
| prefLabel |
GTP Cyclohydrolase I Deficiency
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0268467
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping