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Metadata
ID DOID:0050781
Name Ogden syndrome
Definition A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.
https://en.wikipedia.org/wiki/Ogden_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/21700266
Xrefs

OMIM:300855

ORDO:276432

Subsets

DO_rare_slim

Synonyms

N-alpha-acetyltransferase [EXACT]

N-terminal acetyltransferase deficiency [EXACT]

OGDNS [EXACT]

X-linked Malformation and Infantile Lethality Syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked monogenic disease

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