ptosis-strabismus-ectopic pupils syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008341


Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. [ Orphanet:2999 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:178330 (Orphanet:2999)
  • GARD:0004577 (Orphanet-shared)
  • Orphanet:2999 (OMIM:178330)
  • UMLS:C1867437 (Orphanet:2999)
  • MESH:C566736 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

exactMatch

http://www.orpha.net/ORDO/Orphanet_2999

http://identifiers.org/omim/178330

http://identifiers.org/mesh/C566736

http://linkedlifedata.com/resource/umls/id/C1867437

has exact synonym

McPherson-Hall syndrome

has related synonym

ptosis strabismus ectopic pupils

ptosis, strabismus, and ectopic pupils

id

MONDO:0008341

Term relations