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://www.ncbi.nlm.nih.gov/pubmed/21700266, https://en.wikipedia.org/wiki/Ogden_syndrome |
Xrefs | |
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 X-linked monogenic disease is_a syndrome |
Subclass Logical Relationships |
has material basis in some X-linked inheritance |