Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Angioosteohypertrophic syndrome
Synonyms

Klippel-Trénaunay-Weber syndrome
Definitions

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
ID

http://www.orpha.net/ORDO/Orphanet_2346
alternative_term

Klippel-Trénaunay-Weber syndrome
definition

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
has_age_of_onset

Adolescent

Childhood

Infancy
has_inheritance

Not applicable

Autosomal dominant
hasDbXref

ICD-11:LD26.60

OMIM:608354

OMIM:608355

OMIM:149000

UMLS:C0022739

MeSH:D007715
label

Angioosteohypertrophic syndrome
notation

Clinical group

ORPHA:2346
prefixIRI

ORDO:Orphanet_2346
prefLabel

Angioosteohypertrophic syndrome
present_in

Europe AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_range : Unknown
subClassOf

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_235832

http://www.orpha.net/ORDO/Orphanet_93460

http://www.orpha.net/ORDO/Orphanet_211277

http://www.orpha.net/ORDO/Orphanet_459537

http://www.orpha.net/ORDO/Orphanet_183478

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_79379
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