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Ontology Browser

Term:
Hermansky-Pudlak syndrome 2 (DOID:0060540)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Hermansky-Pudlak syndrome 1  
Hermansky-Pudlak Syndrome 10  
Hermansky-Pudlak syndrome 2  
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)
Hermansky-Pudlak syndrome 3  
Hermansky-Pudlak syndrome 4  
Hermansky-Pudlak syndrome 5  
Hermansky-Pudlak syndrome 6  
Hermansky-Pudlak syndrome 7  
Hermansky-Pudlak syndrome 8  
Hermansky-Pudlak syndrome 9  
Kotzot-Richter Syndrome 

Synonyms
Exact Synonyms: HPS2 ;   Hermansky-Pudlak syndrome with neutropenia ;   Platelet defects and oculocutaneous albinism
Primary IDs: MESH:C537709
Alternate IDs: OMIM:608233
Xrefs: ORDO:183678
Definition Sources: http://omim.org/entry/608233 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.