Hermansky-Pudlak syndrome
cv_term_accession
KW-0363
canonical
uniprot_keyword
KW-0363
canonical
name
Hermansky-Pudlak syndrome
uniprot
synonym
HPS
uniprot
definition
Protein which, if defective, causes Hermansky-Pudlak syndrome, a rare autosomal recessive disorder characterized by oculocutaneous albinism and storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations of the disease.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
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uniprot
keywords