Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Antley-Bixler syndrome
Synonyms
Definitions

A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

ID

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

definition

A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

OMIM:207410

MeSH:D054882

ICD-10:Q87.8

MedDRA:10083864

UMLS:C5234850

ICD-11:LD24.GY

label

Antley-Bixler syndrome

notation

ORPHA:83

part_of

http://www.orpha.net/ORDO/Orphanet_139393

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

prefixIRI

ORDO:Orphanet_83

prefLabel

Antley-Bixler syndrome

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_139393

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display