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Ontology Browser

Term:
Hermansky-Pudlak syndrome 4 (DOID:0060542)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Hermansky-Pudlak syndrome 1  
Hermansky-Pudlak Syndrome 10  
Hermansky-Pudlak syndrome 2  
Hermansky-Pudlak syndrome 3  
Hermansky-Pudlak syndrome 4  
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)
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: HPS4
Primary IDs: OMIM:614073 ;   RDO:9000316
Definition Sources: http://omim.org/entry/614073

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