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loading...| Preferred Name |
N-Acetylglutamate Synthase Deficiency |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C129307 |
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| code |
C129307 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
N-Acetylglutamate Synthase Deficiency |
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| Preferred_Name |
N-Acetylglutamate Synthase Deficiency |
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| prefixIRI |
NCIT:C129307 |
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| prefLabel |
N-Acetylglutamate Synthase Deficiency |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268543 |
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| subClassOf |
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