loading...| Preferred Name |
N-acetylglutamate synthase deficiency |
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| Synonyms |
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| Definitions |
(NAGSD): Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_237310 |
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| definition |
(NAGSD): Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:237310 |
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| label |
N-acetylglutamate synthase deficiency |
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| notation |
OMIM:237310 |
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| prefLabel |
N-acetylglutamate synthase deficiency |
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