Experimental Factor Ontology

Last uploaded: June 18, 2024

Preferred Name	obsolete_Hermansky-Pudlak syndrome
Synonyms	HPS
Definitions	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
ID	http://www.orpha.net/ORDO/Orphanet_79430
Obsolete	true
database_cross_reference	ICD10:E70.3 OMIM:617050 OMIM:614171 MedDRA:10071775 OMIM:203300 OMIM:614072 OMIM:614074 OMIM:614077 OMIM:614073 OMIM:614075 OMIM:614076 OMIM:608233
definition	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
definition_citation	orphanet
deprecated	true
has_exact_synonym	HPS
label	obsolete_Hermansky-Pudlak syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Hermansky-Pudlak syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0019312
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_79430	ORDO	SAME_URI