Ontology Browser

Term:
Hermansky-Pudlak syndrome 1 (DOID:0060539)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4)
Parent Terms Term With Siblings Child Terms
Albinism +     
Albinism Deafness Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Hermansky-Pudlak syndrome 1  
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)
Hermansky-Pudlak Syndrome 10  
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 
Microcephaly Albinism Digital Anomalies Syndrome 
ocular albinism +   
oculocutaneous albinism +   
piebaldism +   

Synonyms
Exact Synonyms: Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells ;   Delta storage pool disease ;   HPS1
Primary IDs: MESH:C538539
Alternate IDs: OMIM:203300 ;   RDO:0004482
Definition Sources: http://omim.org/entry/203300

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