Preferred Label : Megarbane-jalkh syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Developmental delay, dysmorphic facial features, neonatal spontaneous fractures, wrinkled
skin, and hepatic failure;
Prefixed ID : 612785;
Origin ID : 612785;
UMLS CUI : C2748555;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)