JSON

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008806

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. [ Orphanet:1112 ]

Term info

database cross reference
  • UMLS:C1859754 (Orphanet:1112/e)
  • SCTID:733118006 (MONDO:equivalentTo)
  • MESH:C535881 (Orphanet:1112/e)
  • Orphanet:1112 (OMIM:207620)
  • OMIM:207620 (Orphanet:1112/e)
  • GARD:0003051 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859754, http://purl.obolibrary.org/obo/Orphanet_1112, http://identifiers.org/snomedct/733118006, http://identifiers.org/mesh/C535881, https://omim.org/entry/207620

has exact synonym

Johnson-Munson syndrome

has related synonym

Aphalangy of the hands and feet, hemivertebrae, and visceral malformations, Johnson Munson syndrome, APHALANGY with hemivertebrae

id

MONDO:0008806