OBO ID: DOID:0080952
Term Name: AMED syndrome Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. https://pubmed.ncbi.nlm.nih.gov/33355142/
References:
Ontology: Human Disease   (DOID:0080952)
OTHER AMED syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADH5 AMED syndrome, digenic 619151
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None