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Biemond syndrome type 2

^ http://purl.obolibrary.org/obo/MONDO_0008864

Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. [ Orphanet:141333 ]

Term info

database cross reference
  • GARD:0000882 (MONDO:equivalentTo)
  • UMLS:C1859487 (Orphanet:141333)
  • SCTID:717887003 (MONDO:equivalentTo)
  • MESH:C565902 (MONDO:equivalentTo)
  • Orphanet:141333 (OMIM:210350)
  • OMIM:210350 (Orphanet:141333/e)
Subsets

gard_rare, ordo_disease

A synonym that is historic and discouraged
iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly [ GARD:0000882 ]

abbreviation
BS2 [ GARD:0000882 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

comment

Editor note: see also type 1, e.g. GARD:0000881

definition

Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.

exactMatch

http://identifiers.org/mesh/C565902, http://purl.obolibrary.org/obo/Orphanet_141333, https://omim.org/entry/210350, http://identifiers.org/snomedct/717887003, http://linkedlifedata.com/resource/umls/id/C1859487

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Biemond syndrome type 2, hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

has related synonym

BS2, iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly, BIEMOND syndrome II, Biemond syndrome 2, iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly

id

MONDO:0008864

seeAlso

https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2