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Ontology Browser

Term:
Hermansky-Pudlak Syndrome 10 (DOID:9006228)
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  
An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)
Hermansky-Pudlak syndrome 2  
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: HPS10
Primary IDs: OMIM:617050 ;   RDO:9001593

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