Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Jump to:
Preferred Name

Polymalformative genetic syndrome with increased risk of developing cancer
Synonyms
Definitions

Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
ID

http://www.orpha.net/ORDO/Orphanet_183422
definition

Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=183422
has_age_of_onset

All ages
has_inheritance

Autosomal recessive

Autosomal dominant
hasDbXref

UMLS:C5680589
label

Polymalformative genetic syndrome with increased risk of developing cancer
notation

ORPHA:183422

Category
prefixIRI

ORDO:Orphanet_183422
prefLabel

Polymalformative genetic syndrome with increased risk of developing cancer
present_in

Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_140162

http://www.orpha.net/ORDO/Orphanet_557492
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display