Disease #00483 (HPS2 (Hermansky-Pudlak syndrome, type 2 (HPS-2)), OMIM:608233)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	HPS2
Name	Hermansky-Pudlak syndrome, type 2 (HPS-2)
OMIM ID	608233
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AP3B1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-07-24 22:46:50 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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