Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Paris-Trousseau thrombocytopenia
Synonyms
Definitions

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
ID

http://www.orpha.net/ORDO/Orphanet_851
definition

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851
has_age_of_onset

Infancy

Neonatal
hasDbXref

OMIM:188025

OMIM:617443

ICD-11:3B64.01

UMLS:C1956093

ICD-10:D69.4
label

Paris-Trousseau thrombocytopenia
notation

ORPHA:851
part_of

http://www.orpha.net/ORDO/Orphanet_262092

http://www.orpha.net/ORDO/Orphanet_98455
prefixIRI

ORDO:Orphanet_851
prefLabel

Paris-Trousseau thrombocytopenia
present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 50.0 (Case)
treeView

http://www.orpha.net/ORDO/Orphanet_262092

http://www.orpha.net/ORDO/Orphanet_98455
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

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