disease has basis in disruption of
disease caused by disruption of
N-acetyltransferase activity
Ogden syndrome
https://github.com/monarch-initiative/mondo/issues/1567
https://github.com/monarch-initiative/mondo/issues/4521
premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
N-terminal acetyltransferase deficiency
NAT1 deficiency
Acetyl-CoA:arylamine n-acetyltransferase
X-linked malformation and infantile lethality syndrome
Editor note: check GARD
N acetyltransferase deficiency
MESH:C536107
UMLS:C3275447
Orphanet:276432
Ogden syndrome, X-linked recessive, X-linked dominant
HGNC:7645
OGDNS
DOID:0050781
Ogden syndrome
NCIT:C188215
GARD:17281
N acetyltransferase 1 deficiency
MONDO:0010457
arylamine n-acetyltransferase 1
OMIM:300855
N-alpha-acetyltransferase
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
premature aging appearance-developmental delay-cardiac arrhythmia syndrome
progeroid syndrome
NAA10-related syndrome