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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | GTP Cyclohydrolase I Deficiency | |
| Synonyms |
GTP Cyclohydrolase I Deficiency GTPCH Deficiency |
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| 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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C141442 |
|
| code |
C141442
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus
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|
| 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.
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|
| FULL_SYN |
GTP Cyclohydrolase I Deficiency GTPCH Deficiency
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|
| label |
GTP Cyclohydrolase I Deficiency
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|
| Preferred_Name |
GTP Cyclohydrolase I Deficiency
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| prefixIRI |
Thesaurus:C141442
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0268467
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| subClassOf |
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