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posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008650

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. [ Orphanet:2064 ]

Term info

database cross reference
  • UMLS:C1860464 (Orphanet:2064/e)
  • OMIM:192800 (Orphanet:2064/e)
  • SCTID:724064004 (MONDO:equivalentTo)
  • GARD:0002276 (MONDO:equivalentTo)
  • GARD:0005487 (MONDO:shared-umls-xref)
  • Orphanet:2064 (OMIM:192800)
  • MESH:C536344 (Orphanet:2064/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1860464, https://omim.org/entry/192800, http://identifiers.org/snomedct/724064004, http://identifiers.org/mesh/C536344, http://purl.obolibrary.org/obo/Orphanet_2064

has exact synonym

Faulk-Epstein-Jones syndrome

has related synonym

familial posterior lumbosacral vertebral fusion and eyelid ptosis, vertebral fusion posterior lumbosacral blepharoptosis, vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis, congenital ptosis and posterior fusion of lumbosacral vertebrae, Faulk Epstein Jones syndrome

id

MONDO:0008650

seeAlso

https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome