Preferred Label : MIRAGE Syndrome;
NCIt synonyms : Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes,
and Enteropathy;
NCIt definition : An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding
sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising
myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities,
and enteropathy.;
NCI Metathesaurus CUI : CL545426;
Origin ID : C147530;
UMLS CUI : C4284088;
CISMeF manual mappings
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
disease_mapped_to_gene
related_to_genetic_biomarker