Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_710 http://www.orpha.net/ORDO/Orphanet_710
Preferred Name	Pfeiffer syndrome
Definitions	An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
Synonyms	ACS5 Acrocephalosyndactyly type 5
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
label	Pfeiffer syndrome
prefLabel	Pfeiffer syndrome
hasDbXref	MeSH:C538582 ICD-10:Q87.0 MedDRA:10082289 OMIM:101600 ICD-11:LD24.G0 UMLS:C0220658 See more See less
notation	ORPHA:710
alternative_term	ACS5 Acrocephalosyndactyly type 5
present_in	Europe AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
part_of	http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98684
prefixIRI	ORDO:Orphanet_710
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=710
subClassOf	http://www.orpha.net/ORDO/Orphanet_377789 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal dominant
has_age_of_onset	Antenatal Neonatal
treeView	http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98684

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