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Antley-Bixler syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008803

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

Term info

database cross reference
  • Orphanet:83 (OMIM:207410)
  • GARD:0005826 (MONDO:equivalentTo)
  • DOID:0050462 (MONDO:equivalentTo)
  • SCTID:62964007 (MONDO:equivalentTo)
  • DOID:0081289 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

definition

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0081289, http://purl.obolibrary.org/obo/Orphanet_83, http://identifiers.org/snomedct/62964007, http://purl.obolibrary.org/obo/DOID_0050462

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