Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Isolated hereditary giant platelet disorder
Synonyms	Isolated inherited giant platelet disorder Isolated inherited macrothrombocytopenia Isolated hereditary macrothrombocytopenia
ID	http://www.orpha.net/ORDO/Orphanet_220452
alternative_term	Isolated inherited giant platelet disorder Isolated inherited macrothrombocytopenia Isolated hereditary macrothrombocytopenia
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=220452
hasDbXref	ICD-11:3B62.01 UMLS:C5679822
label	Isolated hereditary giant platelet disorder
notation	ORPHA:220452 Category
prefixIRI	ORDO:Orphanet_220452
prefLabel	Isolated hereditary giant platelet disorder
subClassOf	http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_477797

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_220452	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0016361	DOVES	LOOM