Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Primary hypertrophic osteoarthropathy
Synonyms

PHO

Idiopathic hypertrophic osteoarthropathy

Definitions

Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).

ID

http://www.orpha.net/ORDO/Orphanet_248095

alternative_term

PHO

Idiopathic hypertrophic osteoarthropathy

definition

Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=248095

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

MeSH:D010004

label

Primary hypertrophic osteoarthropathy

notation

ORPHA:248095

Clinical group

prefixIRI

ORDO:Orphanet_248095

prefLabel

Primary hypertrophic osteoarthropathy

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

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

http://www.orpha.net/ORDO/Orphanet_93444

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