Preferred Name |
N-Acetylglutamate Synthase Deficiency |
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Synonyms |
N-Acetylglutamate Synthase Deficiency NAGSD |
|
Definitions |
An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129307 |
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code |
C129307 |
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Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
DEFINITION |
An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma. |
|
FULL_SYN |
N-Acetylglutamate Synthase Deficiency NAGSD |
|
label |
N-Acetylglutamate Synthase Deficiency |
|
Preferred_Name |
N-Acetylglutamate Synthase Deficiency |
|
prefixIRI |
Thesaurus:C129307 |
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Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0268543 |
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subClassOf |
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