hereditary disease Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/aphalangy_hemivertebrae_urogenital_intestinal_dysgenesis_syndrome https://www.malacards.org/card/aphalangy_with_hemivertebrae MEDGEN:347225 Aphalangy of the hands and feet, hemivertebrae, and visceral malformations GARD:0003051 Johnson-Munson syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. OMIM:207620 MESH:C535881 Johnson Munson syndrome Orphanet:1112 UMLS:C1859754 SCTID:733118006 MONDO:0008806 dysostosis congenital limb malformation