obsolete absent thumb-short stature-immunodeficiency syndrome https://github.com/monarch-initiative/mondo/issues/6747 https://github.com/monarch-initiative/mondo/issues/6770 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/7693 https://www.malacards.org/card/thumb_agenesis_short_stature_and_immunodeficiency true OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. MESH:C564770 MONDO:0010123 OMIM:274190 Orphanet:2951