FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

N-acetylglutamate synthase deficiency
Synonyms
Definitions

A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31.

ID

http://purl.obolibrary.org/obo/DOID_0112258

definition

A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

N-acetylglutamate synthase deficiency

prefixIRI

DOID:0112258

prefLabel

N-acetylglutamate synthase deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_9267

http://purl.obolibrary.org/obo/DOID_0050737

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