Preferred Label : Spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal;
Type : Other, mainly phenotypes with suspected mendelian basis;
Prefixed ID : 603117;
Origin ID : 603117;
UMLS CUI : C1864185;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)