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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Albinism +     
Hermansky-Pudlak syndrome +     
Aland Island eye disease  
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 11  
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 1 +   
oculocutaneous albinism +   
piebaldism +   

Synonyms
Exact Synonyms: HPS1 ;   HPS1-RELATED CONDITION ;   albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ;   delta storage pool disease
Broad Synonyms: HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS
Primary IDs: MESH:C538539
Alternate IDs: OMIM:203300
Xrefs: NCI:C150367
Definition Sources: http://omim.org/entry/203300 "DO" "DO"

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