JSON

Barber-Say syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008853

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. [ Orphanet:1231 ]

Term info

database cross reference
  • SCTID:408537003 (MONDO:equivalentTo)
  • GARD:0000819 (MONDO:equivalentTo)
  • MESH:C537908 (Orphanet:1231/e)
  • DOID:0060549 (MONDO:equivalentTo)
  • Orphanet:1231 (OMIM:209885)
  • OMIM:209885 (Orphanet:1231/e)
  • UMLS:C1319466 (Orphanet:1231/e)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
BBRSAY [ MONDO:Lexical OMIM:209885 ]

definition

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1319466, http://purl.obolibrary.org/obo/DOID_0060549, http://identifiers.org/snomedct/408537003, http://purl.obolibrary.org/obo/Orphanet_1231, http://identifiers.org/mesh/C537908, https://omim.org/entry/209885

has exact synonym

Barber-Say syndrome, hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

has related synonym

BARBER-SAY syndrome, BBRSAY, hypertrichosis, atrophic skin, ectropion, and macrostomia, hypertrichosis atrophic skin ectropion macrostomia, Bss, Barber Say syndrome

id

MONDO:0008853

seeAlso

https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome