MIRAGE syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MIRAGE
exact
mirage
exact
mirage syndrome
exact
myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy
exact
myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome
exact
myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
exact