Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. [ Orphanet:83 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:Q87.0 (Orphanet:83)
  • GARD:0005826 (MONDO:equivalentTo)
  • SCTID:62964007 (MONDO:equivalentTo)
  • DOID:0050462 (MONDO:equivalentTo)
  • Orphanet:83 (OMIM:207410)
Subsets

gard_rare, ordo_malformation_syndrome

closeMatch

http://linkedlifedata.com/resource/umls/id/C2936791

http://linkedlifedata.com/resource/umls/id/C2350233

http://identifiers.org/mesh/D054882

http://linkedlifedata.com/resource/umls/id/C1860042

definition

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

exactMatch

http://identifiers.org/omim/207410

http://www.orpha.net/ORDO/Orphanet_83

http://purl.obolibrary.org/obo/DOID_0050462

http://linkedlifedata.com/resource/umls/id/C0265307

http://identifiers.org/snomedct/62964007

http://identifiers.org/mesh/C537780

has exact synonym

trapezoidocephaly-synostosis syndrome

has related synonym

trapezoidocephaly synostosis syndrome

osteodysgenesis, multisynostotic with fractures

multisynostotic osteodysgenesis with long bone fractures

osteodysgenesis, multisynostotic, with fractures

Antley Bixler syndrome

id

MONDO:0008803

seeAlso

https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome