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Bowen-Conradi syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008879

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. [ Orphanet:1270 ]

Term info

database cross reference
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:711153001 (MONDO:equivalentTo)
  • OMIM:211180 (Orphanet:1270/e)
  • UMLS:C1859405 (Orphanet:1270/e)
  • GARD:0005950 (MONDO:equivalentTo)
  • DOID:0050684 (MONDO:equivalentTo)
  • MESH:C537081 (Orphanet:1270/e)
  • Orphanet:1270 (OMIM:211180)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
BWCNS [ MONDO:Lexical OMIM:211180 ]

IAO 0000233

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

definition

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

exactMatch

http://identifiers.org/snomedct/711153001, http://linkedlifedata.com/resource/umls/id/C1859405, http://identifiers.org/mesh/C537081, https://omim.org/entry/211180, http://purl.obolibrary.org/obo/Orphanet_1270, http://purl.obolibrary.org/obo/DOID_0050684

excluded subClassOf

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

has exact synonym

Bowen syndrome, Hutterite type, Bowen-Conradi syndrome

has related synonym

Bowen Hutterite syndrome (formerly), BWCNS, Bowen Hutterite syndrome, formerly, Bowen-Conradi Hutterite syndrome, Bowen Hutterite syndrome

id

MONDO:0008879

seeAlso

https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome